Ignite Creation Date:
2025-12-24 @ 4:19 PM
Ignite Modification Date:
2025-12-25 @ 2:16 PM
Study NCT ID:
NCT01736566
Status:
COMPLETED
Last Update Posted:
2024-08-27
First Post:
2012-08-17
Is NOT Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D002312', 'term': 'Cardiomyopathy, Hypertrophic'}, {'id': 'D002311', 'term': 'Cardiomyopathy, Dilated'}], 'ancestors': [{'id': 'D009202', 'term': 'Cardiomyopathies'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D001020', 'term': 'Aortic Stenosis, Subvalvular'}, {'id': 'D001024', 'term': 'Aortic Valve Stenosis'}, {'id': 'D000082862', 'term': 'Aortic Valve Disease'}, {'id': 'D006349', 'term': 'Heart Valve Diseases'}, {'id': 'D006332', 'term': 'Cardiomegaly'}, {'id': 'D000083083', 'term': 'Laminopathies'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D000073336', 'term': 'Whole Genome Sequencing'}], 'ancestors': [{'id': 'D017422', 'term': 'Sequence Analysis, DNA'}, {'id': 'D017421', 'term': 'Sequence Analysis'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'carrie.blout@gmail.com', 'phone': '617-264-5837', 'title': 'Carrie Blout, Genetic Counselor Project Manager', 'organization': "Brigham and Women's Hospital"}, 'certainAgreement': {'piSponsorEmployee': False, 'restrictiveAgreement': False}}, 'adverseEventsModule': {'timeFrame': 'Baseline to 6 months for the main cohort and through 5 years for the Long Term Follow-up cohort', 'description': 'Adverse event definitions are consistant with clinicatrials.gov\n\nAdverse events were collected and reported to the IRB', 'eventGroups': [{'id': 'EG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.', 'otherNumAtRisk': 51, 'deathsNumAtRisk': 51, 'otherNumAffected': 0, 'seriousNumAtRisk': 51, 'deathsNumAffected': 0, 'seriousNumAffected': 0}, {'id': 'EG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only.', 'otherNumAtRisk': 50, 'deathsNumAtRisk': 50, 'otherNumAffected': 3, 'seriousNumAtRisk': 50, 'deathsNumAffected': 0, 'seriousNumAffected': 0}, {'id': 'EG002', 'title': 'Family History + Whole Genome Sequencing: Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.', 'otherNumAtRisk': 50, 'deathsNumAtRisk': 50, 'otherNumAffected': 0, 'seriousNumAtRisk': 50, 'deathsNumAffected': 3, 'seriousNumAffected': 3}, {'id': 'EG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only', 'otherNumAtRisk': 52, 'deathsNumAtRisk': 52, 'otherNumAffected': 0, 'seriousNumAtRisk': 52, 'deathsNumAffected': 1, 'seriousNumAffected': 1}, {'id': 'EG004', 'title': 'Extension Cohort', 'description': 'Family History + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\nThe General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n\nThe Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.', 'otherNumAtRisk': 10, 'deathsNumAtRisk': 10, 'otherNumAffected': 0, 'seriousNumAtRisk': 10, 'deathsNumAffected': 0, 'seriousNumAffected': 0}], 'otherEvents': [{'term': 'Other', 'notes': 'Elevated HADS scale anxiety score', 'stats': [{'groupId': 'EG000', 'numAtRisk': 51, 'numEvents': 0, 'numAffected': 0}, {'groupId': 'EG001', 'numAtRisk': 50, 'numEvents': 3, 'numAffected': 3}, {'groupId': 'EG002', 'numAtRisk': 50, 'numEvents': 0, 'numAffected': 0}, {'groupId': 'EG003', 'numAtRisk': 52, 'numEvents': 0, 'numAffected': 0}, {'groupId': 'EG004', 'numAtRisk': 10, 'numEvents': 0, 'numAffected': 0}], 'organSystem': 'Psychiatric disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}], 'seriousEvents': [{'term': 'Serious', 'notes': 'Deceased- Complications of Cardiomyopathy', 'stats': [{'groupId': 'EG000', 'numAtRisk': 51, 'numEvents': 0, 'numAffected': 0}, {'groupId': 'EG001', 'numAtRisk': 50, 'numEvents': 0, 'numAffected': 0}, {'groupId': 'EG002', 'numAtRisk': 50, 'numEvents': 3, 'numAffected': 3}, {'groupId': 'EG003', 'numAtRisk': 52, 'numEvents': 1, 'numAffected': 1}, {'groupId': 'EG004', 'numAtRisk': 10, 'numEvents': 0, 'numAffected': 0}], 'organSystem': 'Cardiac disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}, {'term': 'Death', 'notes': 'Learned that participant had died when called to collect long term follow-up data. Cause of death from medical record review appears to be a stroke. Not related to the intervention', 'stats': [{'groupId': 'EG000', 'numAtRisk': 51}, {'groupId': 'EG001', 'numAtRisk': 50}, {'groupId': 'EG002', 'numAtRisk': 50, 'numAffected': 3}, {'groupId': 'EG003', 'numAtRisk': 52, 'numAffected': 1}, {'groupId': 'EG004', 'numAtRisk': 10}], 'organSystem': 'Cardiac disorders', 'assessmentType': 'NON_SYSTEMATIC_ASSESSMENT'}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Change in Attitudes and Trust', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '48', 'groupId': 'OG002'}, {'value': '46', 'groupId': 'OG003'}, {'value': '6', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Standard of Care Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Standard of Care Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Family History + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'categories': [{'measurements': [{'value': '0.0', 'spread': '5.3', 'groupId': 'OG000'}, {'value': '0.7', 'spread': '4.5', 'groupId': 'OG001'}, {'value': '3.5', 'spread': '5.1', 'groupId': 'OG002'}, {'value': '1.8', 'spread': '3.5', 'groupId': 'OG003'}, {'value': '1.0', 'spread': '6.3', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Change at 6-weeks post-results disclosure relative to baseline, administered approx.12.5 months after baseline', 'description': "Adapted measures (Hall, MA, et al. 2006) assessed participants' attitudes toward genetic information, trust of their physicians and the medical system regarding interpretation and use of genetic information. Higher scores on a 12-60 scale represent more positive attitudes and greater trust.", 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who completed the baseline survey and 6 week follow-up survey'}, {'type': 'PRIMARY', 'title': 'Change in Self Efficacy', 'denoms': [{'units': 'Participants', 'counts': [{'value': '49', 'groupId': 'OG000'}, {'value': '47', 'groupId': 'OG001'}, {'value': '7', 'groupId': 'OG002'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG002', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'categories': [{'measurements': [{'value': '0.3', 'spread': '3.4', 'groupId': 'OG000'}, {'value': '0.5', 'spread': '4.3', 'groupId': 'OG001'}, {'value': '3.1', 'spread': '5.7', 'groupId': 'OG002'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline and 6-months post-results disclosure (6 mos. follow-up administered approx. 17 months after baseline)', 'description': "Assessed through a scale developed for the Multiplex Initiative (Kaphingst, K.A., et al. 2012). Higher scores on a 0-24 scale indicate greater confidence in participants' abilities to understand genetic information.", 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants randomized to the experimental Family History + Whole Genome Sequencing arm who completed both the baseline and the 6-month follow-up surveys'}, {'type': 'PRIMARY', 'title': 'Change in Preferences for WGS Information', 'denoms': [{'units': 'Participants', 'counts': [{'value': '48', 'groupId': 'OG000'}, {'value': '42', 'groupId': 'OG001'}, {'value': '47', 'groupId': 'OG002'}, {'value': '44', 'groupId': 'OG003'}, {'value': '6', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'categories': [{'measurements': [{'value': '-.1', 'spread': '1.5', 'groupId': 'OG000'}, {'value': '0.2', 'spread': '2.1', 'groupId': 'OG001'}, {'value': '0', 'spread': '2.0', 'groupId': 'OG002'}, {'value': '.4', 'spread': '2.3', 'groupId': 'OG003'}, {'value': '0.0', 'spread': '1.9', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline and 6-weeks post-disclosure (6 wks follow-up administered approx. 12.5 mos. after baseline)', 'description': 'Through nine novel survey items, participants were asked about their preferences for the types of genetic testing results they would like to receive from their whole genome sequence. Scores on an 0-9 scale represent the change in the number of categories of types of genetic testing results out of 9 that participants wanted to learn about from Baseline to 6-weeks follow-up.', 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who completed both the baseline and 6-week follow-up surveys'}, {'type': 'PRIMARY', 'title': 'Change in Perceived Health', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '8', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Active Comparator, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing: Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Active Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'title': 'Change at disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '8', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '-0.1', 'spread': '0.6', 'groupId': 'OG000'}, {'value': '0', 'spread': '0.6', 'groupId': 'OG001'}, {'value': '0', 'spread': '0.6', 'groupId': 'OG002'}, {'value': '-0.2', 'spread': '0.7', 'groupId': 'OG003'}, {'value': '0.3', 'spread': '0.5', 'groupId': 'OG004'}]}]}, {'title': 'Change at 6 months post-disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '49', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '47', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '-0.1', 'spread': '0.7', 'groupId': 'OG000'}, {'value': '-0.1', 'spread': '0.7', 'groupId': 'OG001'}, {'value': '-0.1', 'spread': '0.8', 'groupId': 'OG002'}, {'value': '-0.3', 'spread': '0.8', 'groupId': 'OG003'}, {'value': '0.1', 'spread': '0.4', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline, at the disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline) and 6-months post-disclosure (6 mos. follow-up follow-up administered approx. 17 months after baseline)', 'description': 'A single-item measure assessed how participants perceived their own health on a 1-5 scale. Adapted from the SF-12 (DeSalvo KB, Qual Life Res, 2006). Higher scores indicate more positive perceptions of health at follow-up', 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who completed the item on patient surveys.'}, {'type': 'PRIMARY', 'title': 'Change in Shared Decision Making', 'denoms': [{'units': 'Participants', 'counts': [{'value': '46', 'groupId': 'OG000'}, {'value': '41', 'groupId': 'OG001'}, {'value': '46', 'groupId': 'OG002'}, {'value': '45', 'groupId': 'OG003'}, {'value': '5', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nPlacebo Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'categories': [{'measurements': [{'value': '0.1', 'spread': '0.7', 'groupId': 'OG000'}, {'value': '0', 'spread': '0.5', 'groupId': 'OG001'}, {'value': '0.2', 'spread': '0.8', 'groupId': 'OG002'}, {'value': '0.1', 'spread': '0.7', 'groupId': 'OG003'}, {'value': '-0.2', 'spread': '0.8', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline and 6-weeks post-disclosure (6 wks follow-up administered approx. 12.5 mos. after baseline)', 'description': 'Changes in shared decision making were assessed through a single item adapted from the Control Preferences Scale, a measure designed to ascertain the degree of control an individual wants to assume when decisions are being made about medical treatment. Higher scores on a scale of 1-3 indicate preferences towards more equally shared decision making (Heisler et al 2003). Higher mean changes over time indicate a change in preference towards more equally shared decision making at follow-up.', 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who were completed the item on both the baseline and 6-week follow-up surveys'}, {'type': 'PRIMARY', 'title': 'Change in Intolerance of Uncertainty', 'denoms': [{'units': 'Participants', 'counts': [{'value': '49', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '47', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'categories': [{'measurements': [{'value': '-0.5', 'spread': '6.3', 'groupId': 'OG000'}, {'value': '0.3', 'spread': '6.6', 'groupId': 'OG001'}, {'value': '-1.3', 'spread': '5.8', 'groupId': 'OG002'}, {'value': '0', 'spread': '7.4', 'groupId': 'OG003'}, {'value': '4.9', 'spread': '14.4', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline and 6-months post-disclosure (6 mos. follow-up administered approx. 17 mos. after baseline)', 'description': "Changes in participants' tolerance for uncertainty were assessed through a short 12-item version of the Intolerance of Uncertainty Scale (Carleton, 2007). Total summed scale range is 12-60, with higher scores indicating increased negative feelings about uncertainty from baseline to follow-up.", 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who completed both the baseline and 6-month follow-up surveys'}, {'type': 'PRIMARY', 'title': 'Change in General Anxiety and Depression', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '8', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'title': 'Change in Anxiety at disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '8', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '0.1', 'spread': '2.3', 'groupId': 'OG000'}, {'value': '-.2', 'spread': '2.8', 'groupId': 'OG001'}, {'value': '-.4', 'spread': '1.9', 'groupId': 'OG002'}, {'value': '-.3', 'spread': '2.8', 'groupId': 'OG003'}, {'value': '-0.5', 'spread': '1.5', 'groupId': 'OG004'}]}]}, {'title': 'Change in Anxiety at 6 Weeks', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '48', 'groupId': 'OG002'}, {'value': '46', 'groupId': 'OG003'}, {'value': '6', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '-1.4', 'spread': '3.2', 'groupId': 'OG000'}, {'value': '-.8', 'spread': '2.3', 'groupId': 'OG001'}, {'value': '-1.7', 'spread': '2.6', 'groupId': 'OG002'}, {'value': '-1.0', 'spread': '2.4', 'groupId': 'OG003'}, {'value': '-1.5', 'spread': '1.5', 'groupId': 'OG004'}]}]}, {'title': 'Change in Anxiety at 6 Months', 'denoms': [{'units': 'Participants', 'counts': [{'value': '49', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '47', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '-.2', 'spread': '2.6', 'groupId': 'OG000'}, {'value': '-.1', 'spread': '2.6', 'groupId': 'OG001'}, {'value': '-.2', 'spread': '2.4', 'groupId': 'OG002'}, {'value': '-.4', 'spread': '2.4', 'groupId': 'OG003'}, {'value': '-0.9', 'spread': '3.0', 'groupId': 'OG004'}]}]}, {'title': 'Change in Depression at disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '8', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '0', 'spread': '2.1', 'groupId': 'OG000'}, {'value': '0.7', 'spread': '2.6', 'groupId': 'OG001'}, {'value': '-0.1', 'spread': '1.6', 'groupId': 'OG002'}, {'value': '0', 'spread': '2.0', 'groupId': 'OG003'}, {'value': '-0.3', 'spread': '2.8', 'groupId': 'OG004'}]}]}, {'title': 'Change in Depression at 6 Weeks', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '48', 'groupId': 'OG002'}, {'value': '46', 'groupId': 'OG003'}, {'value': '6', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '-.3', 'spread': '2.1', 'groupId': 'OG000'}, {'value': '0.4', 'spread': '2.7', 'groupId': 'OG001'}, {'value': '-.8', 'spread': '1.7', 'groupId': 'OG002'}, {'value': '-.2', 'spread': '1.8', 'groupId': 'OG003'}, {'value': '-1.0', 'spread': '2.8', 'groupId': 'OG004'}]}]}, {'title': 'Change in Depression at 6 Months', 'denoms': [{'units': 'Participants', 'counts': [{'value': '49', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '47', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '-.1', 'spread': '1.9', 'groupId': 'OG000'}, {'value': '0.5', 'spread': '2.1', 'groupId': 'OG001'}, {'value': '-.1', 'spread': '1.9', 'groupId': 'OG002'}, {'value': '0', 'spread': '1.8', 'groupId': 'OG003'}, {'value': '0.9', 'spread': '3.8', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline, at the disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline), 6-weeks post-disclosure and 6-months post-disclosure (6 wks. follow-up administered approx. 12.5 mos and 6 mos follow-up approx 17 mos. after baseline)', 'description': "The Hospital Anxiety and Depression Scale (HADS) scale was administered through a survey. This is a validated scale designed to assess the participants' level of depression and anxiety through Likert-type questions. Total ranges for each summed subscale, anxiety and depression, is 0-21. Any participant scoring \\>14 on the anxiety subscale or \\>16 on the depression subscale were contacted by study staff for evaluation. Higher scores indicate increased anxiety or depression from baseline to follow-up.", 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who completed the baseline survey and follow-up surveys'}, {'type': 'PRIMARY', 'title': 'Change in Health Behaviors', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '48', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nPlacebo Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Family History + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'title': '6 Weeks Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '43', 'groupId': 'OG001'}, {'value': '48', 'groupId': 'OG002'}, {'value': '46', 'groupId': 'OG003'}, {'value': '6', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '24', 'groupId': 'OG000'}, {'value': '16', 'groupId': 'OG001'}, {'value': '17', 'groupId': 'OG002'}, {'value': '15', 'groupId': 'OG003'}, {'value': '4', 'groupId': 'OG004'}]}]}, {'title': '6 Months Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '49', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '47', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '20', 'groupId': 'OG000'}, {'value': '13', 'groupId': 'OG001'}, {'value': '26', 'groupId': 'OG002'}, {'value': '20', 'groupId': 'OG003'}, {'value': '3', 'groupId': 'OG004'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'timeFrame': '6-weeks post-disclosure and 6-months post-disclosure (6 wks. follow-up administered approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)', 'description': 'Novel items that asked whether participants changed vitamin use, supplement use, medication use, diet, exercise, or "other" health behaviors. Counts and percentages represent participants who reported any health behavior changes.', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who attended disclosure sessions and responded to post-disclosure surveys'}, {'type': 'PRIMARY', 'title': 'Information Sharing', 'denoms': [{'units': 'Participants', 'counts': [{'value': '46', 'groupId': 'OG000'}, {'value': '47', 'groupId': 'OG001'}, {'value': '43', 'groupId': 'OG002'}, {'value': '45', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'title': 'Plans to share at disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '44', 'groupId': 'OG000'}, {'value': '47', 'groupId': 'OG001'}, {'value': '43', 'groupId': 'OG002'}, {'value': '41', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '43', 'groupId': 'OG000'}, {'value': '39', 'groupId': 'OG001'}, {'value': '42', 'groupId': 'OG002'}, {'value': '30', 'groupId': 'OG003'}, {'value': '6', 'groupId': 'OG004'}]}]}, {'title': 'Shared, per 6 month survey', 'denoms': [{'units': 'Participants', 'counts': [{'value': '46', 'groupId': 'OG000'}, {'value': '39', 'groupId': 'OG001'}, {'value': '39', 'groupId': 'OG002'}, {'value': '45', 'groupId': 'OG003'}, {'value': '5', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '41', 'groupId': 'OG000'}, {'value': '27', 'groupId': 'OG001'}, {'value': '38', 'groupId': 'OG002'}, {'value': '28', 'groupId': 'OG003'}, {'value': '4', 'groupId': 'OG004'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'timeFrame': 'At the disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline) and 6-months post-disclosure (approx. 17 mos. after baseline)', 'description': 'Sharing of information was assessed by asking patients if they intended to share results with others (at the end of the disclosure visit) and if they had shared their results with others (6 months after disclosure) adapted from the Health Information National Trends Survey (HINTS).', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who answered information-sharing questions on the post-disclosure or 6-month follow-up questionnaire'}, {'type': 'PRIMARY', 'title': 'Changes in Genomic Literacy', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '45', 'groupId': 'OG001'}, {'value': '47', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nPlacebo Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'categories': [{'measurements': [{'value': '-.4', 'spread': '1.8', 'groupId': 'OG000'}, {'value': '-.5', 'spread': '2.3', 'groupId': 'OG001'}, {'value': '-.6', 'spread': '2.1', 'groupId': 'OG002'}, {'value': '-.2', 'spread': '1.2', 'groupId': 'OG003'}, {'value': '0.0', 'spread': '1.6', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Assessing Genomic Literacy at baseline and 6-months post-disclosure (approx. 17 mos. after baseline)', 'description': "Changes in participants' genomic literacy were measured with an 11-item measure adapted from the ClinSeq Study (Kaphingst K.A. et al. 2012) administered at baseline and 6 months post-disclosure. Items are marked as correct (1) or incorrect (0) and summed for a total scale range of 0 to 11, with higher scores indicating higher genomic literacy.", 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who completed the genetic literacy items in the baseline and 6-month follow-up surveys'}, {'type': 'PRIMARY', 'title': 'Changes in Health Care Utilization', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '50', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'title': 'Visits', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '50', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '3.9', 'spread': '7.9', 'groupId': 'OG000'}, {'value': '2.3', 'spread': '6.8', 'groupId': 'OG001'}, {'value': '1.7', 'spread': '7.8', 'groupId': 'OG002'}, {'value': '1.7', 'spread': '7.1', 'groupId': 'OG003'}, {'value': '0.6', 'spread': '3.7', 'groupId': 'OG004'}]}]}, {'title': 'Labs', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '50', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '5', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '1.4', 'spread': '8.9', 'groupId': 'OG000'}, {'value': '-0.3', 'spread': '7.8', 'groupId': 'OG001'}, {'value': '1.5', 'spread': '10.6', 'groupId': 'OG002'}, {'value': '1.5', 'spread': '7.4', 'groupId': 'OG003'}, {'value': '0.5', 'spread': '1.2', 'groupId': 'OG004'}]}]}, {'title': 'Imaging tests', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '50', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '0', 'spread': '2.1', 'groupId': 'OG000'}, {'value': '-.1', 'spread': '2.6', 'groupId': 'OG001'}, {'value': '0.9', 'spread': '2.1', 'groupId': 'OG002'}, {'value': '1.0', 'spread': '1.7', 'groupId': 'OG003'}, {'value': '0.0', 'spread': '0.0', 'groupId': 'OG004'}]}]}, {'title': 'Cardiology tests', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '50', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '6', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '0.2', 'spread': '1.0', 'groupId': 'OG000'}, {'value': '0.2', 'spread': '0.8', 'groupId': 'OG001'}, {'value': '0.8', 'spread': '2.7', 'groupId': 'OG002'}, {'value': '0.9', 'spread': '3.0', 'groupId': 'OG003'}, {'value': '0.3', 'spread': '0.6', 'groupId': 'OG004'}]}]}, {'title': 'Hospitalizations', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '50', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '0', 'spread': '0.1', 'groupId': 'OG000'}, {'value': '0', 'spread': '0.2', 'groupId': 'OG001'}, {'value': '0.1', 'spread': '0.6', 'groupId': 'OG002'}, {'value': '0.1', 'spread': '0.7', 'groupId': 'OG003'}, {'value': '0.0', 'spread': '0.0', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': '6 months prior to disclosure and 6-months post-disclosure (approx. 17 mos. after baseline) and 5-years post-disclosure', 'description': "Participants' health care utilization was assessed through a combination of medical record reviews and novel and adapted measures from the Behavioral Risk Factor Surveillance System (BRFSS). Changes are assessed by comparing the number of services and procedures received in 6 months following disclosure against the number of services and procedures received in the 6 months prior to disclosure.", 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'All randomized participants who received disclosure'}, {'type': 'PRIMARY', 'title': 'Change in Perceived Utility', 'denoms': [{'units': 'Participants', 'counts': [{'value': '48', 'groupId': 'OG000'}, {'value': '45', 'groupId': 'OG001'}, {'value': '7', 'groupId': 'OG002'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG002', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'categories': [{'measurements': [{'value': '-.6', 'spread': '2.5', 'groupId': 'OG000'}, {'value': '-.9', 'spread': '3.0', 'groupId': 'OG001'}, {'value': '-1.0', 'spread': '2.3', 'groupId': 'OG002'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'At baseline and 6-months post-disclosure (approx. 17 mos. after baseline)', 'description': 'A novel survey item asked participants to rate the usefulness of whole genome sequencing results for managing health on a 1-10 scale. Scores at 6 months were compared to scores at baseline.', 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who received whole genome sequencing and completed the survey items at baseline and at 6 months'}, {'type': 'SECONDARY', 'title': 'Psychological Impact', 'denoms': [{'units': 'Participants', 'counts': [{'value': '46', 'groupId': 'OG000'}, {'value': '41', 'groupId': 'OG001'}, {'value': '45', 'groupId': 'OG002'}, {'value': '44', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'title': '6 Weeks Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '46', 'groupId': 'OG000'}, {'value': '37', 'groupId': 'OG001'}, {'value': '45', 'groupId': 'OG002'}, {'value': '43', 'groupId': 'OG003'}, {'value': '6', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '13.2', 'spread': '3.8', 'groupId': 'OG000'}, {'value': '15.1', 'spread': '3.9', 'groupId': 'OG001'}, {'value': '14.2', 'spread': '4.8', 'groupId': 'OG002'}, {'value': '14.5', 'spread': '4.3', 'groupId': 'OG003'}, {'value': '11.4', 'spread': '4.2', 'groupId': 'OG004'}]}]}, {'title': '6 Months Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '42', 'groupId': 'OG000'}, {'value': '41', 'groupId': 'OG001'}, {'value': '45', 'groupId': 'OG002'}, {'value': '44', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '14.9', 'spread': '3.2', 'groupId': 'OG000'}, {'value': '15.2', 'spread': '3.7', 'groupId': 'OG001'}, {'value': '16.0', 'spread': '5.4', 'groupId': 'OG002'}, {'value': '16.5', 'spread': '5.6', 'groupId': 'OG003'}, {'value': '14.1', 'spread': '3.5', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': '6-weeks post-disclosure and 6-months post-disclosure (6wks. follow-up administered approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)', 'description': 'Psychological impact was assessed by a modified version of the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire. Higher scores indicated more distress related to study results.', 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who answered the psychological impact items on the 6 week or 6 month follow-up questionnaires'}, {'type': 'SECONDARY', 'title': 'Decisional Regret', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '9', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'title': 'Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '51', 'groupId': 'OG003'}, {'value': '9', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '8.9', 'spread': '16.7', 'groupId': 'OG000'}, {'value': '12.9', 'spread': '14.0', 'groupId': 'OG001'}, {'value': '6.2', 'spread': '9.6', 'groupId': 'OG002'}, {'value': '15.8', 'spread': '22.8', 'groupId': 'OG003'}, {'value': '6.1', 'spread': '10.8', 'groupId': 'OG004'}]}]}, {'title': '6 Weeks Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '48', 'groupId': 'OG002'}, {'value': '46', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '9.8', 'spread': '16.6', 'groupId': 'OG000'}, {'value': '17.2', 'spread': '15.5', 'groupId': 'OG001'}, {'value': '5.8', 'spread': '9.7', 'groupId': 'OG002'}, {'value': '15.0', 'spread': '20.6', 'groupId': 'OG003'}, {'value': '6.4', 'spread': '11.1', 'groupId': 'OG004'}]}]}, {'title': '6 Months Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '45', 'groupId': 'OG001'}, {'value': '47', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '6', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '11.5', 'spread': '18.2', 'groupId': 'OG000'}, {'value': '19.9', 'spread': '19.3', 'groupId': 'OG001'}, {'value': '7.9', 'spread': '11.2', 'groupId': 'OG002'}, {'value': '11.3', 'spread': '15.9', 'groupId': 'OG003'}, {'value': '4.2', 'spread': '10.2', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'At post-disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline), at 6-weeks post-disclosure, and at 6-months post-disclosure (6 wks follow-up approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)', 'description': "Participants' satisfaction with their decision to participate in the MedSeq Project through a 5-item validated scale (Brehaut 2003). Average score computed after reversing scores of 2 negatively phrased items and converting score to range from 0-100 by subtracting 1 and multiplying by 25. Higher scores indicate greater regret.", 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who answered the decisional regret items on the post-disclosure, 6 week follow-up, or 6 month follow-up surveys'}, {'type': 'SECONDARY', 'title': 'Understanding', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'title': 'Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '49', 'groupId': 'OG000'}, {'value': '32', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '35', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '4.2', 'spread': '0.7', 'groupId': 'OG000'}, {'value': '4.5', 'spread': '0.7', 'groupId': 'OG001'}, {'value': '4.0', 'spread': '0.7', 'groupId': 'OG002'}, {'value': '4.2', 'spread': '0.8', 'groupId': 'OG003'}, {'value': '3.9', 'spread': '0.7', 'groupId': 'OG004'}]}]}, {'title': '6 Weeks Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '43', 'groupId': 'OG001'}, {'value': '48', 'groupId': 'OG002'}, {'value': '46', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '4.2', 'spread': '0.8', 'groupId': 'OG000'}, {'value': '4.2', 'spread': '0.9', 'groupId': 'OG001'}, {'value': '4.1', 'spread': '0.7', 'groupId': 'OG002'}, {'value': '4.2', 'spread': '0.9', 'groupId': 'OG003'}, {'value': '4.0', 'spread': '0.6', 'groupId': 'OG004'}]}]}, {'title': '6 Months Post-Disclosure', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '47', 'groupId': 'OG002'}, {'value': '49', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '4.0', 'spread': '0.7', 'groupId': 'OG000'}, {'value': '4.3', 'spread': '0.7', 'groupId': 'OG001'}, {'value': '4.0', 'spread': '0.8', 'groupId': 'OG002'}, {'value': '4.2', 'spread': '0.7', 'groupId': 'OG003'}, {'value': '4.0', 'spread': '0.6', 'groupId': 'OG004'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'At post-disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline), at 6-weeks post-disclosure, and at 6-months post-disclosure (6 wks follow-up approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)', 'description': "A novel item assessed participants' subjective understanding of their study results on a 1-5 scale, where higher scores indicate greater subjective understanding.", 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants who answered the understanding item on the post-disclosure, 6-week follow-up, or 6-month follow-up surveys.'}, {'type': 'SECONDARY', 'title': 'Expectations', 'denoms': [{'units': 'Participants', 'counts': [{'value': '51', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '50', 'groupId': 'OG002'}, {'value': '52', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'groups': [{'id': 'OG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which containd genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'OG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'OG004', 'title': 'Extension Cohort', 'description': 'Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'classes': [{'title': 'Identify disease risk', 'denoms': [{'units': 'Participants', 'counts': [{'value': '51', 'groupId': 'OG000'}, {'value': '48', 'groupId': 'OG001'}, {'value': '48', 'groupId': 'OG002'}, {'value': '52', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '40', 'groupId': 'OG000'}, {'value': '36', 'groupId': 'OG001'}, {'value': '41', 'groupId': 'OG002'}, {'value': '42', 'groupId': 'OG003'}, {'value': '8', 'groupId': 'OG004'}]}]}, {'title': 'Influence treatment', 'denoms': [{'units': 'Participants', 'counts': [{'value': '51', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '50', 'groupId': 'OG002'}, {'value': '52', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '43', 'groupId': 'OG000'}, {'value': '44', 'groupId': 'OG001'}, {'value': '41', 'groupId': 'OG002'}, {'value': '44', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}]}, {'title': 'Influence medical care', 'denoms': [{'units': 'Participants', 'counts': [{'value': '51', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '48', 'groupId': 'OG002'}, {'value': '52', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '44', 'groupId': 'OG000'}, {'value': '46', 'groupId': 'OG001'}, {'value': '40', 'groupId': 'OG002'}, {'value': '44', 'groupId': 'OG003'}, {'value': '9', 'groupId': 'OG004'}]}]}, {'title': 'Influence medications', 'denoms': [{'units': 'Participants', 'counts': [{'value': '50', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '50', 'groupId': 'OG002'}, {'value': '52', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '35', 'groupId': 'OG000'}, {'value': '41', 'groupId': 'OG001'}, {'value': '36', 'groupId': 'OG002'}, {'value': '35', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}]}, {'title': 'Influence end-of-life planning', 'denoms': [{'units': 'Participants', 'counts': [{'value': '51', 'groupId': 'OG000'}, {'value': '49', 'groupId': 'OG001'}, {'value': '49', 'groupId': 'OG002'}, {'value': '52', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '27', 'groupId': 'OG000'}, {'value': '19', 'groupId': 'OG001'}, {'value': '25', 'groupId': 'OG002'}, {'value': '22', 'groupId': 'OG003'}, {'value': '7', 'groupId': 'OG004'}]}]}, {'title': 'Influence reproductive decisions', 'denoms': [{'units': 'Participants', 'counts': [{'value': '51', 'groupId': 'OG000'}, {'value': '48', 'groupId': 'OG001'}, {'value': '50', 'groupId': 'OG002'}, {'value': '52', 'groupId': 'OG003'}, {'value': '10', 'groupId': 'OG004'}]}], 'categories': [{'measurements': [{'value': '18', 'groupId': 'OG000'}, {'value': '8', 'groupId': 'OG001'}, {'value': '24', 'groupId': 'OG002'}, {'value': '16', 'groupId': 'OG003'}, {'value': '4', 'groupId': 'OG004'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'timeFrame': 'Baseline', 'description': 'Novel survey items asked participants about whether or not their genetic test results would be useful for specific reasons. Response options were "no," "probably not", "probably yes," and "yes." Responses of "probably yes" and "yes" were combined to simplify presentation of data.', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED', 'populationDescription': 'Randomized participants who completed the baseline survey.'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}, {'id': 'FG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Standard of Care Only: Doctors and their patients receive a Family History report only'}, {'id': 'FG002', 'title': 'Family History + Whole Genome Sequencing: Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\nThe General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n\nThe Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'FG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only. Active Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'FG004', 'title': 'Extension Cohort', 'description': 'Family History + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.'}], 'periods': [{'title': 'Main Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '51'}, {'groupId': 'FG001', 'numSubjects': '50'}, {'groupId': 'FG002', 'numSubjects': '50'}, {'groupId': 'FG003', 'numSubjects': '52'}, {'groupId': 'FG004', 'numSubjects': '10'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '50'}, {'groupId': 'FG001', 'numSubjects': '50'}, {'groupId': 'FG002', 'numSubjects': '49'}, {'groupId': 'FG003', 'numSubjects': '51'}, {'groupId': 'FG004', 'numSubjects': '6'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '1'}, {'groupId': 'FG001', 'numSubjects': '0'}, {'groupId': 'FG002', 'numSubjects': '1'}, {'groupId': 'FG003', 'numSubjects': '1'}, {'groupId': 'FG004', 'numSubjects': '4'}]}]}, {'title': 'Long Term Follow-up', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '26'}, {'groupId': 'FG001', 'numSubjects': '16'}, {'groupId': 'FG002', 'numSubjects': '25'}, {'groupId': 'FG003', 'numSubjects': '25'}, {'groupId': 'FG004', 'numSubjects': '4'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '26'}, {'groupId': 'FG001', 'numSubjects': '16'}, {'groupId': 'FG002', 'numSubjects': '25'}, {'groupId': 'FG003', 'numSubjects': '25'}, {'groupId': 'FG004', 'numSubjects': '4'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '0'}, {'groupId': 'FG001', 'numSubjects': '0'}, {'groupId': 'FG002', 'numSubjects': '0'}, {'groupId': 'FG003', 'numSubjects': '0'}, {'groupId': 'FG004', 'numSubjects': '0'}]}]}], 'recruitmentDetails': "Participant recruitment began in 2012 at Brigham and Women's hospital by letter, email, phone and in person."}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '51', 'groupId': 'BG000'}, {'value': '50', 'groupId': 'BG001'}, {'value': '50', 'groupId': 'BG002'}, {'value': '52', 'groupId': 'BG003'}, {'value': '10', 'groupId': 'BG004'}, {'value': '213', 'groupId': 'BG005'}]}], 'groups': [{'id': 'BG000', 'title': 'Family History + Whole Genome Sequencing: Primary Care', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'BG001', 'title': 'Family History Only: Primary Care', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Standard of Care Only: Doctors and their patients receive a Family History report only'}, {'id': 'BG002', 'title': 'Family History + Whole Genome Sequencing - Cardiology', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nMain Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)\n\n\\*In the main study participants are randomized between Experimental and Comparator, in the Extension phase of the study all participants are in the Experimental Arm.'}, {'id': 'BG003', 'title': 'Family History Only: Cardiology', 'description': 'Doctors and their patients receive an Annotated Family History Report only.\n\nActive Comparator: Family History Only: Doctors and their patients receive a Family History report only'}, {'id': 'BG004', 'title': 'Extension Cohort', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\n * In the main study, participants are randomized between Experimental and Comparator. For the Extension cohort, all participants receive whole genome sequencing.'}, {'id': 'BG005', 'title': 'Total', 'description': 'Total of all reporting groups'}], 'measures': [{'title': 'Age, Categorical', 'classes': [{'categories': [{'title': '<=18 years', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}, {'value': '0', 'groupId': 'BG003'}, {'value': '0', 'groupId': 'BG004'}, {'value': '0', 'groupId': 'BG005'}]}, {'title': 'Between 18 and 65 years', 'measurements': [{'value': '49', 'groupId': 'BG000'}, {'value': '47', 'groupId': 'BG001'}, {'value': '32', 'groupId': 'BG002'}, {'value': '36', 'groupId': 'BG003'}, {'value': '10', 'groupId': 'BG004'}, {'value': '174', 'groupId': 'BG005'}]}, {'title': '>=65 years', 'measurements': [{'value': '2', 'groupId': 'BG000'}, {'value': '3', 'groupId': 'BG001'}, {'value': '18', 'groupId': 'BG002'}, {'value': '16', 'groupId': 'BG003'}, {'value': '0', 'groupId': 'BG004'}, {'value': '39', 'groupId': 'BG005'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Age, Continuous', 'classes': [{'categories': [{'measurements': [{'value': '55.2', 'spread': '7.0', 'groupId': 'BG000'}, {'value': '54.6', 'spread': '7.6', 'groupId': 'BG001'}, {'value': '55.9', 'spread': '16.1', 'groupId': 'BG002'}, {'value': '55.9', 'spread': '12.2', 'groupId': 'BG003'}, {'value': '51.4', 'spread': '8.3', 'groupId': 'BG004'}, {'value': '55.4', 'spread': '11.3', 'groupId': 'BG005'}]}]}], 'paramType': 'MEAN', 'unitOfMeasure': 'years', 'dispersionType': 'STANDARD_DEVIATION'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '29', 'groupId': 'BG000'}, {'value': '30', 'groupId': 'BG001'}, {'value': '24', 'groupId': 'BG002'}, {'value': '19', 'groupId': 'BG003'}, {'value': '7', 'groupId': 'BG004'}, {'value': '109', 'groupId': 'BG005'}]}, {'title': 'Male', 'measurements': [{'value': '22', 'groupId': 'BG000'}, {'value': '20', 'groupId': 'BG001'}, {'value': '26', 'groupId': 'BG002'}, {'value': '33', 'groupId': 'BG003'}, {'value': '3', 'groupId': 'BG004'}, {'value': '104', 'groupId': 'BG005'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Race (NIH/OMB)', 'classes': [{'categories': [{'title': 'American Indian or Alaska Native', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}, {'value': '0', 'groupId': 'BG003'}, {'value': '0', 'groupId': 'BG004'}, {'value': '0', 'groupId': 'BG005'}]}, {'title': 'Asian', 'measurements': [{'value': '3', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '1', 'groupId': 'BG002'}, {'value': '1', 'groupId': 'BG003'}, {'value': '0', 'groupId': 'BG004'}, {'value': '5', 'groupId': 'BG005'}]}, {'title': 'Native Hawaiian or Other Pacific Islander', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}, {'value': '0', 'groupId': 'BG003'}, {'value': '0', 'groupId': 'BG004'}, {'value': '0', 'groupId': 'BG005'}]}, {'title': 'Black or African American', 'measurements': [{'value': '1', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '3', 'groupId': 'BG002'}, {'value': '0', 'groupId': 'BG003'}, {'value': '10', 'groupId': 'BG004'}, {'value': '16', 'groupId': 'BG005'}]}, {'title': 'White', 'measurements': [{'value': '46', 'groupId': 'BG000'}, {'value': '43', 'groupId': 'BG001'}, {'value': '45', 'groupId': 'BG002'}, {'value': '47', 'groupId': 'BG003'}, {'value': '0', 'groupId': 'BG004'}, {'value': '181', 'groupId': 'BG005'}]}, {'title': 'More than one race', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}, {'value': '1', 'groupId': 'BG003'}, {'value': '0', 'groupId': 'BG004'}, {'value': '3', 'groupId': 'BG005'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '1', 'groupId': 'BG000'}, {'value': '3', 'groupId': 'BG001'}, {'value': '1', 'groupId': 'BG002'}, {'value': '3', 'groupId': 'BG003'}, {'value': '0', 'groupId': 'BG004'}, {'value': '8', 'groupId': 'BG005'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Region of Enrollment', 'classes': [{'title': 'United States', 'categories': [{'measurements': [{'value': '51', 'groupId': 'BG000'}, {'value': '50', 'groupId': 'BG001'}, {'value': '50', 'groupId': 'BG002'}, {'value': '52', 'groupId': 'BG003'}, {'value': '10', 'groupId': 'BG004'}, {'value': '213', 'groupId': 'BG005'}]}]}], 'paramType': 'NUMBER', 'unitOfMeasure': 'participants'}], 'populationDescription': 'Randomized participants who provided information on the baseline survey (main study), or participants who attended disclosure sessions (extension cohort)'}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2017-01-25', 'size': 220607, 'label': 'Study Protocol and Statistical Analysis Plan', 'hasIcf': False, 'hasSap': True, 'filename': 'Prot_SAP_000.pdf', 'typeAbbrev': 'Prot_SAP', 'uploadDate': '2018-10-05T11:29', 'hasProtocol': True}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'HEALTH_SERVICES_RESEARCH', 'interventionModel': 'PARALLEL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 213}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2011-12', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-08', 'completionDateStruct': {'date': '2021-01-02', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2024-08-05', 'studyFirstSubmitDate': '2012-08-17', 'resultsFirstSubmitDate': '2018-07-27', 'studyFirstSubmitQcDate': '2012-11-28', 'lastUpdatePostDateStruct': {'date': '2024-08-27', 'type': 'ACTUAL'}, 'resultsFirstSubmitQcDate': '2018-10-10', 'studyFirstPostDateStruct': {'date': '2012-11-29', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2018-11-07', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2016-11-04', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Change in Attitudes and Trust', 'timeFrame': 'Change at 6-weeks post-results disclosure relative to baseline, administered approx.12.5 months after baseline', 'description': "Adapted measures (Hall, MA, et al. 2006) assessed participants' attitudes toward genetic information, trust of their physicians and the medical system regarding interpretation and use of genetic information. Higher scores on a 12-60 scale represent more positive attitudes and greater trust."}, {'measure': 'Change in Self Efficacy', 'timeFrame': 'Baseline and 6-months post-results disclosure (6 mos. follow-up administered approx. 17 months after baseline)', 'description': "Assessed through a scale developed for the Multiplex Initiative (Kaphingst, K.A., et al. 2012). Higher scores on a 0-24 scale indicate greater confidence in participants' abilities to understand genetic information."}, {'measure': 'Change in Preferences for WGS Information', 'timeFrame': 'Baseline and 6-weeks post-disclosure (6 wks follow-up administered approx. 12.5 mos. after baseline)', 'description': 'Through nine novel survey items, participants were asked about their preferences for the types of genetic testing results they would like to receive from their whole genome sequence. Scores on an 0-9 scale represent the change in the number of categories of types of genetic testing results out of 9 that participants wanted to learn about from Baseline to 6-weeks follow-up.'}, {'measure': 'Change in Perceived Health', 'timeFrame': 'Baseline, at the disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline) and 6-months post-disclosure (6 mos. follow-up follow-up administered approx. 17 months after baseline)', 'description': 'A single-item measure assessed how participants perceived their own health on a 1-5 scale. Adapted from the SF-12 (DeSalvo KB, Qual Life Res, 2006). Higher scores indicate more positive perceptions of health at follow-up'}, {'measure': 'Change in Shared Decision Making', 'timeFrame': 'Baseline and 6-weeks post-disclosure (6 wks follow-up administered approx. 12.5 mos. after baseline)', 'description': 'Changes in shared decision making were assessed through a single item adapted from the Control Preferences Scale, a measure designed to ascertain the degree of control an individual wants to assume when decisions are being made about medical treatment. Higher scores on a scale of 1-3 indicate preferences towards more equally shared decision making (Heisler et al 2003). Higher mean changes over time indicate a change in preference towards more equally shared decision making at follow-up.'}, {'measure': 'Change in Intolerance of Uncertainty', 'timeFrame': 'Baseline and 6-months post-disclosure (6 mos. follow-up administered approx. 17 mos. after baseline)', 'description': "Changes in participants' tolerance for uncertainty were assessed through a short 12-item version of the Intolerance of Uncertainty Scale (Carleton, 2007). Total summed scale range is 12-60, with higher scores indicating increased negative feelings about uncertainty from baseline to follow-up."}, {'measure': 'Change in General Anxiety and Depression', 'timeFrame': 'Baseline, at the disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline), 6-weeks post-disclosure and 6-months post-disclosure (6 wks. follow-up administered approx. 12.5 mos and 6 mos follow-up approx 17 mos. after baseline)', 'description': "The Hospital Anxiety and Depression Scale (HADS) scale was administered through a survey. This is a validated scale designed to assess the participants' level of depression and anxiety through Likert-type questions. Total ranges for each summed subscale, anxiety and depression, is 0-21. Any participant scoring \\>14 on the anxiety subscale or \\>16 on the depression subscale were contacted by study staff for evaluation. Higher scores indicate increased anxiety or depression from baseline to follow-up."}, {'measure': 'Change in Health Behaviors', 'timeFrame': '6-weeks post-disclosure and 6-months post-disclosure (6 wks. follow-up administered approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)', 'description': 'Novel items that asked whether participants changed vitamin use, supplement use, medication use, diet, exercise, or "other" health behaviors. Counts and percentages represent participants who reported any health behavior changes.'}, {'measure': 'Information Sharing', 'timeFrame': 'At the disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline) and 6-months post-disclosure (approx. 17 mos. after baseline)', 'description': 'Sharing of information was assessed by asking patients if they intended to share results with others (at the end of the disclosure visit) and if they had shared their results with others (6 months after disclosure) adapted from the Health Information National Trends Survey (HINTS).'}, {'measure': 'Changes in Genomic Literacy', 'timeFrame': 'Assessing Genomic Literacy at baseline and 6-months post-disclosure (approx. 17 mos. after baseline)', 'description': "Changes in participants' genomic literacy were measured with an 11-item measure adapted from the ClinSeq Study (Kaphingst K.A. et al. 2012) administered at baseline and 6 months post-disclosure. Items are marked as correct (1) or incorrect (0) and summed for a total scale range of 0 to 11, with higher scores indicating higher genomic literacy."}, {'measure': 'Changes in Health Care Utilization', 'timeFrame': '6 months prior to disclosure and 6-months post-disclosure (approx. 17 mos. after baseline) and 5-years post-disclosure', 'description': "Participants' health care utilization was assessed through a combination of medical record reviews and novel and adapted measures from the Behavioral Risk Factor Surveillance System (BRFSS). Changes are assessed by comparing the number of services and procedures received in 6 months following disclosure against the number of services and procedures received in the 6 months prior to disclosure."}, {'measure': 'Change in Perceived Utility', 'timeFrame': 'At baseline and 6-months post-disclosure (approx. 17 mos. after baseline)', 'description': 'A novel survey item asked participants to rate the usefulness of whole genome sequencing results for managing health on a 1-10 scale. Scores at 6 months were compared to scores at baseline.'}], 'secondaryOutcomes': [{'measure': 'Psychological Impact', 'timeFrame': '6-weeks post-disclosure and 6-months post-disclosure (6wks. follow-up administered approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)', 'description': 'Psychological impact was assessed by a modified version of the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire. Higher scores indicated more distress related to study results.'}, {'measure': 'Decisional Regret', 'timeFrame': 'At post-disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline), at 6-weeks post-disclosure, and at 6-months post-disclosure (6 wks follow-up approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)', 'description': "Participants' satisfaction with their decision to participate in the MedSeq Project through a 5-item validated scale (Brehaut 2003). Average score computed after reversing scores of 2 negatively phrased items and converting score to range from 0-100 by subtracting 1 and multiplying by 25. Higher scores indicate greater regret."}, {'measure': 'Understanding', 'timeFrame': 'At post-disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline), at 6-weeks post-disclosure, and at 6-months post-disclosure (6 wks follow-up approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)', 'description': "A novel item assessed participants' subjective understanding of their study results on a 1-5 scale, where higher scores indicate greater subjective understanding."}, {'measure': 'Expectations', 'timeFrame': 'Baseline', 'description': 'Novel survey items asked participants about whether or not their genetic test results would be useful for specific reasons. Response options were "no," "probably not", "probably yes," and "yes." Responses of "probably yes" and "yes" were combined to simplify presentation of data.'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['Primary Care', 'Cardiology', 'Hypertrophic Cardiomyopathy', 'Dilated Cardiomyopathy', 'Whole Genome Sequencing'], 'conditions': ['Healthy Adults (Full Study and Extension Phase)', 'Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy']}, 'referencesModule': {'references': [{'pmid': '22344227', 'type': 'BACKGROUND', 'citation': 'Biesecker LG. Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project. Genet Med. 2012 Apr;14(4):393-8. doi: 10.1038/gim.2011.78. Epub 2012 Feb 16.'}, {'pmid': '21307933', 'type': 'BACKGROUND', 'citation': 'Green ED, Guyer MS; National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature. 2011 Feb 10;470(7333):204-13. doi: 10.1038/nature09764.'}, {'pmid': '16835427', 'type': 'BACKGROUND', 'citation': 'Kohane IS, Masys DR, Altman RB. The incidentalome: a threat to genomic medicine. JAMA. 2006 Jul 12;296(2):212-5. doi: 10.1001/jama.296.2.212. No abstract available.'}, {'pmid': '18997217', 'type': 'BACKGROUND', 'citation': 'Khoury MJ, Berg A, Coates R, Evans J, Teutsch SM, Bradley LA. The evidence dilemma in genomic medicine. Health Aff (Millwood). 2008 Nov-Dec;27(6):1600-11. doi: 10.1377/hlthaff.27.6.1600.'}, {'pmid': '20505183', 'type': 'BACKGROUND', 'citation': 'Varmus H. Ten years on--the human genome and medicine. N Engl J Med. 2010 May 27;362(21):2028-9. doi: 10.1056/NEJMe0911933. No abstract available.'}, {'pmid': '21330519', 'type': 'BACKGROUND', 'citation': 'Evans JP, Meslin EM, Marteau TM, Caulfield T. Genomics. Deflating the genomic bubble. Science. 2011 Feb 18;331(6019):861-2. doi: 10.1126/science.1198039. 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Postgrad Med J. 2013 Nov;89(1057):615-6. doi: 10.1136/postgradmedj-2013-132093. No abstract available.'}, {'pmid': '24195999', 'type': 'BACKGROUND', 'citation': 'Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP; Members of the CSER Actionability and Return of Results Working Group. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov;15(11):860-7. doi: 10.1038/gim.2013.133. Epub 2013 Oct 24.'}, {'pmid': '23788249', 'type': 'BACKGROUND', 'citation': "Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics. 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Epub 2012 Jun 23.'}, {'pmid': '22422049', 'type': 'BACKGROUND', 'citation': 'Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15.'}, {'type': 'BACKGROUND', 'citation': 'Green RC, Rehm H, Kohane I. Clinical Genome Sequencing. Genomic and Personalized Medicine 2nd Edition: 102- 122, 2012.'}, {'pmid': '25614766', 'type': 'BACKGROUND', 'citation': "Blumenthal-Barby JS, McGuire AL, Green RC, Ubel PA. How behavioral economics can help to avoid 'The last mile problem' in whole genome sequencing. Genome Med. 2015 Jan 22;7(1):3. doi: 10.1186/s13073-015-0132-8. eCollection 2015."}, {'pmid': '25629736', 'type': 'BACKGROUND', 'citation': 'Green RC, Lautenbach D, McGuire AL. GINA, genetic discrimination, and genomic medicine. N Engl J Med. 2015 Jan 29;372(5):397-9. doi: 10.1056/NEJMp1404776. No abstract available.'}, {'pmid': '24645908', 'type': 'RESULT', 'citation': 'Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC; MedSeq Project. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials. 2014 Mar 20;15:85. doi: 10.1186/1745-6215-15-85.'}, {'pmid': '25612602', 'type': 'RESULT', 'citation': 'Vassy JL, McLaughlin HM, MacRae CA, Seidman CE, Lautenbach D, Krier JB, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC. A one-page summary report of genome sequencing for the healthy adult. Public Health Genomics. 2015;18(2):123-9. doi: 10.1159/000370102. Epub 2015 Jan 21.'}, {'pmid': '29030401', 'type': 'DERIVED', 'citation': "Cirino AL, Lakdawala NK, McDonough B, Conner L, Adler D, Weinfeld M, O'Gara P, Rehm HL, Machini K, Lebo M, Blout C, Green RC, MacRae CA, Seidman CE, Ho CY; MedSeq Project*. A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. Circ Cardiovasc Genet. 2017 Oct;10(5):e001768. doi: 10.1161/CIRCGENETICS.117.001768."}, {'pmid': '28654958', 'type': 'DERIVED', 'citation': 'Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC; MedSeq Project. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med. 2017 Jun 27;167(3):159-169. doi: 10.7326/M17-0188. Print 2017 Aug 1.'}], 'seeAlsoLinks': [{'url': 'http://www.genome.gov/', 'label': 'NHGRI'}]}, 'descriptionModule': {'briefSummary': "The MedSeq™ Project seeks to explore the impact of incorporating information from a patient's whole genome sequence into the practice of clinical medicine. In the extension phase of MedSeq we are attempting increase our participant diversity by increasing targeted enrollment of African/African American patient participants.", 'detailedDescription': "Whole genome sequencing (WGS) and whole exome sequencing (WES) services are currently available to and are being utilized by physicians and their patients in both research and clinical settings. The widespread availability and use of WGS and WES in the practice of clinical medicine is imminent. In the very near future, sequencing of individual genomes will be inexpensive and ubiquitous, and patients will be looking to the medical establishment for interpretations, insight and advice to improve their health. Developing standards and procedures for the use of WGS information in clinical medicine is an urgent need, but there are numerous obstacles related to integrity and storage of WGS data, interpretation and responsible clinical integration. MedSeq™ seeks to develop a process to integrate WGS into clinical medicine and explore the impact of doing so.\n\nWe believe that WGS will be used in many ways, including two distinct and complementary situations. In generally healthy patients, physicians will use the results of WGS to derive insight into future health risks and inform prevention and surveillance efforts, a category we refer to as General Genomic Medicine. In patients presenting with a family history or symptoms of a disease, physicians will use the results of WGS to interrogate particular sets of genes known to be associated with the disease in question, a category we refer to as Disease-Specific Genomic Medicine.\n\nBeginning in fall 2012, we will enroll 10 primary care physicians and 100 of their healthy middle-aged patients to evaluate the use of General Genomic Medicine, and 10 cardiologists and 100 of their patients presenting with hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) to evaluate the use of Disease-Specific Genomic Medicine. We will randomize physicians and their patients within each of the above models to receive clinically meaningful information derived from WGS versus current standard of care without the use of WGS.\n\nMedSeq™ is comprised of three distinct but highly collaborative projects. Project 1 will enroll physicians and patients into the protocol, educate the physicians on basic genomic principles and safely monitor the use of genomic information in clinical practice. Project 2 will use a WGS analysis/interpretation pipeline to generate a genome report on each patient randomized to receive WGS in this protocol. Project 3 will examine preferences and motivations of physicians and patients enrolled, evaluate the flow and utilization of genomic information within the clinical interactions, and assess understanding, behavior, medical consequences and healthcare costs associated with the use of WGS in these models of medical practice.\n\nIn an extension phase of the study, we will 1) recruit approximately 10-15 patient-participants who self-identify as African or African American, whose physicians deem to be healthy. All will be placed in the whole genome-sequencing arm of the study. They will undergo the same activities as traditional MedSeq participants except for randomization. 2) We will conduct a targeted phenotype assessment on MedSeq Project patient-participants who are identified to have a monogenic finding. We plan to perform additional analysis by reviewing their medical records and looking specifically with their variant in mind to see if features associated with the variants were known prior to the study or were identified by further testing or by their physical during the course of the study.\n\nThis initiative will significantly accelerate the use of genomics in clinical medicine by creating and safely testing novel methods for integrating information from WGS into physicians' care of patients."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '90 Years', 'minimumAge': '18 Years', 'healthyVolunteers': True, 'eligibilityCriteria': "Note for Age Eligibility:\n\n* Cardiology patients 18 Years to 90 Years OR\n* Primary Care Patients 40 Years to 65 Years (Adult, Senior)\n\nInclusion Criteria:\n\nPrimary Care\n\n* Generally healthy (as defined by the primary care provider) adult patients at Brigham and Women's Hospital ages 40-65. All patients must be fluent in English.\n\nCardiology\n\n* Patients in the Partners Healthcare System who are 18 years or older with a diagnosis of hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) and a family history of HCM or DCM who previously had or who are candidates for targeted HCM or DCM genetic testing through routine clinical practice within Partners. All patients must be fluent in English.\n\nExclusion Criteria:\n\nPrimary Care\n\n* Patients who do not meet the above criteria. Patients with cardiac disease or a progressive debilitating illness. Patients who are pregnant or patients whose spouses/significant others are pregnant. Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score \\> 11 administered at the baseline study visit.)\n\nCardiology\n\n* Patients who do not meet the above criteria. Patients with a progressive debilitating illness. Patients who are pregnant or patients whose spouses/significant others are pregnant. Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score \\> 11 administered at the baseline study visit.)\n\nExtension Phase - Additional Inclusion Criteria\n\nPart 1:\n\n* Above inclusion and exclusion criteria PLUS:\n* Inclusion: Self-identify as African or African American.\n\nPart 2:\n\nInclusion Criteria\n\n* MedSeq participants determined to have a monogenic finding\n\nExclusion Criteria\n\n* Participants not previously enrolled in MedSeq Project\n* Participants not identified to have a monogenic finding"}, 'identificationModule': {'nctId': 'NCT01736566', 'briefTitle': 'A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare', 'organization': {'class': 'OTHER', 'fullName': "Brigham and Women's Hospital"}, 'officialTitle': 'The MedSeq Project Pilot Study: Integrating Whole Genome Sequencing Into the Practice of Clinical Medicine', 'orgStudyIdInfo': {'id': 'MedSeq™'}, 'secondaryIdInfos': [{'id': 'U01HG006500', 'link': 'https://reporter.nih.gov/quickSearch/U01HG006500', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Family History + Whole Genome Sequencing', 'description': 'Doctors and their patients receive a Genome Report and an Annotated Family History Report.', 'interventionNames': ['Other: Family History + Whole Genome Sequencing']}, {'type': 'ACTIVE_COMPARATOR', 'label': 'Family History Only', 'description': 'Doctors and their patients receive an Annotated Family History Report only.', 'interventionNames': ['Other: Family History Only']}], 'interventions': [{'name': 'Family History + Whole Genome Sequencing', 'type': 'OTHER', 'description': 'Doctors and their patients receive a Genome Report and a Family History report.\n\nThere are two sections of the Genome Report:\n\n1. The General Genome Report, which include highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.\n2. The Cardiac Risk Supplement, which contain genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.\n\nExtension Phase: Experimental: Family History + Whole Genome Sequencing\n\n\\*In the main study participants are randomized to either the Experimental or Other Arm, in the Extension phase of the study all participants are in the Experimental Arm.', 'armGroupLabels': ['Family History + Whole Genome Sequencing']}, {'name': 'Family History Only', 'type': 'OTHER', 'description': 'Doctors and their patients receive a Family History report.', 'armGroupLabels': ['Family History Only']}]}, 'contactsLocationsModule': {'locations': [{'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': "Brigham and Women's Hospital", 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}], 'overallOfficials': [{'name': 'Robert C Green, MD, MPH', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Brigham and Women's Hospital"}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Brigham and Women's Hospital", 'class': 'OTHER'}, 'collaborators': [{'name': 'National Human Genome Research Institute (NHGRI)', 'class': 'NIH'}, {'name': 'Baylor College of Medicine', 'class': 'OTHER'}, {'name': 'Duke University', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator, The MedSeq Project', 'investigatorFullName': 'Robert C. Green, MD, MPH', 'investigatorAffiliation': "Brigham and Women's Hospital"}}}}