Ignite Creation Date:
2025-12-25 @ 3:48 AM
Ignite Modification Date:
2026-03-12 @ 2:53 AM
Study NCT ID:
NCT02504502
Status:
COMPLETED
Last Update Posted:
2018-02-12
First Post:
2015-07-07
Is Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D001321', 'term': 'Autistic Disorder'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}], 'ancestors': [{'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D065886', 'term': 'Neurodevelopmental Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D000067877', 'term': 'Autism Spectrum Disorder'}, {'id': 'D002659', 'term': 'Child Development Disorders, Pervasive'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'akrahm@geisinger.edu', 'phone': '570-214-5093', 'title': 'Alanna Kulchak Rahm, PhD', 'organization': 'Geisinger Health System'}, 'certainAgreement': {'piSponsorEmployee': True}, 'limitationsAndCaveats': {'description': "Fewer parents than expected received a causal variant result for their child's condition. Qualitative data indicate that parents without a causal variant did not feel need to open the enhanced report and did not find additional information helpful."}}, 'adverseEventsModule': {'timeFrame': 'study duration, up to 6 months post receipt of enhanced genomic results report', 'eventGroups': [{'id': 'EG000', 'title': 'Routine Clinical Care First, Then Enhanced Report', 'description': 'Participants will receive routine clinical care with a copy of their standard laboratory report. After completion of the 3 month survey, participants will receive the enhanced report, followed by another survey 3 months after receiving the enhanced report.', 'otherNumAtRisk': 24, 'deathsNumAtRisk': 24, 'otherNumAffected': 0, 'seriousNumAtRisk': 24, 'deathsNumAffected': 0, 'seriousNumAffected': 0}, {'id': 'EG001', 'title': 'Routine Clinical Care Plus Enhanced Genomic Report', 'description': 'Routine clinical care and access to the enhanced genomic lab report upon completion of the baseline survey. Participants in this arm will receive only one survey at 3 months post enhanced report.', 'otherNumAtRisk': 28, 'deathsNumAtRisk': 28, 'otherNumAffected': 0, 'seriousNumAtRisk': 28, 'deathsNumAffected': 0, 'seriousNumAffected': 0}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Satisfaction With Genomic Test Report', 'denoms': [{'units': 'Participants', 'counts': [{'value': '6', 'groupId': 'OG000'}, {'value': '9', 'groupId': 'OG001'}]}], 'groups': [{'id': 'OG000', 'title': 'Routine Clinical Care First, Then Enhanced Report', 'description': 'Participants will receive routine clinical care with a copy of their standard laboratory report. After completion of the 3 month survey, participants will receive the enhanced report, followed by another survey 3 months after receiving the enhanced report.'}, {'id': 'OG001', 'title': 'Routine Clinical Care Plus Enhanced Genomic Report', 'description': 'Routine clinical care and access to the enhanced genomic lab report upon completion of the baseline survey. Participants in this arm will receive only one survey at 3 months post enhanced report.'}], 'classes': [{'title': 'Summary', 'categories': [{'title': 'Not Helpful', 'measurements': [{'value': '0', 'groupId': 'OG000'}, {'value': '2', 'groupId': 'OG001'}]}, {'title': 'A little bit helpfu', 'measurements': [{'value': '1', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}, {'title': 'Somewhat helpful', 'measurements': [{'value': '1', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}, {'title': 'Quite a bit helpful', 'measurements': [{'value': '2', 'groupId': 'OG000'}, {'value': '3', 'groupId': 'OG001'}]}, {'title': 'Very helpful', 'measurements': [{'value': '0', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}, {'title': 'Missing', 'measurements': [{'value': '2', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}]}, {'title': 'Detailed Explanation', 'categories': [{'title': 'Not Helpful', 'measurements': [{'value': '0', 'groupId': 'OG000'}, {'value': '2', 'groupId': 'OG001'}]}, {'title': 'A little bit helpfu', 'measurements': [{'value': '1', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}, {'title': 'Somewhat helpful', 'measurements': [{'value': '1', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}, {'title': 'Quite a bit helpful', 'measurements': [{'value': '2', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}, {'title': 'Very helpful', 'measurements': [{'value': '0', 'groupId': 'OG000'}, {'value': '3', 'groupId': 'OG001'}]}, {'title': 'Missing', 'measurements': [{'value': '2', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}]}, {'title': 'Care Instructions', 'categories': [{'title': 'Not Helpful', 'measurements': [{'value': '0', 'groupId': 'OG000'}, {'value': '4', 'groupId': 'OG001'}]}, {'title': 'A little bit helpfu', 'measurements': [{'value': '2', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}, {'title': 'Somewhat helpful', 'measurements': [{'value': '1', 'groupId': 'OG000'}, {'value': '2', 'groupId': 'OG001'}]}, {'title': 'Quite a bit helpful', 'measurements': [{'value': '1', 'groupId': 'OG000'}, {'value': '0', 'groupId': 'OG001'}]}, {'title': 'Very helpful', 'measurements': [{'value': '0', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}, {'title': 'Missing', 'measurements': [{'value': '2', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'timeFrame': '3 months after receipt of enhanced report', 'description': '3 questions on how helpful various parts of the test report were for parents who opened the enhanced report.', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED', 'populationDescription': 'parents who opened the enhanced report per electronic confirmation. For Clinical care then enhanced report N=4 CV; 2NCV - these 2 NCV parents did not answer the survey questions about the report ("missing"). For routine care with enhanced report first N=9 NCV.'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Routine Care With Delayed Access to Report', 'description': 'Participants will receive routine clinical care with a copy of their standard laboratory report. After completion of the 3 month survey, participants will receive the enhanced report, followed by another survey 3 months after receiving the enhanced report.'}, {'id': 'FG001', 'title': 'Routine Clinical Care Plus Enhanced Genomic Report', 'description': 'Routine clinical care and access to the enhanced genomic lab report upon completion of the baseline survey. Participants in this arm will receive only one survey at 3 months post enhanced report.'}], 'periods': [{'title': 'Routine Care vs. Enhanced Report', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '24'}, {'groupId': 'FG001', 'numSubjects': '28'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '20'}, {'groupId': 'FG001', 'numSubjects': '21'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '4'}, {'groupId': 'FG001', 'numSubjects': '7'}]}], 'dropWithdraws': [{'type': 'Lost to Follow-up', 'reasons': [{'groupId': 'FG000', 'numSubjects': '4'}, {'groupId': 'FG001', 'numSubjects': '7'}]}]}, {'title': 'Crossover to Enhanced Report', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '20'}, {'comment': 'The enhanced report arm was completed in first period and does not carry forward to period 2.', 'groupId': 'FG001', 'numSubjects': '0'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '15'}, {'comment': 'the enhanced report arm was completed in first period and does not carry forward to period 2', 'groupId': 'FG001', 'numSubjects': '0'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '5'}, {'groupId': 'FG001', 'numSubjects': '0'}]}], 'dropWithdraws': [{'type': 'Lost to Follow-up', 'reasons': [{'groupId': 'FG000', 'numSubjects': '5'}, {'groupId': 'FG001', 'numSubjects': '0'}]}]}], 'recruitmentDetails': 'Subjects participating in the whole genome sequencing study for undiagnosed developmental delay at Geisinger Health System were invited to participate.', 'preAssignmentDetails': 'parents were randomized together (e.g. parents were both randomized to the same arm).\n\nparents were grouped by genomic sequencing finding (causal variant found vs. non-causal variant found) prior to randomization to ensure equal number of causal variants and non-causal variants in each arm.'}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '24', 'groupId': 'BG000'}, {'value': '28', 'groupId': 'BG001'}, {'value': '52', 'groupId': 'BG002'}]}], 'groups': [{'id': 'BG000', 'title': 'Control With Delayed Access', 'description': 'Those resulting in variants of significance will receive routine clinical care and receive the enhanced genomic report after returning 3 month survey.\n\nRoutine Clinical Care: Participants will receive routine clinical care. After returning the 3 month survey the participants will also receive the enhanced genomic report.'}, {'id': 'BG001', 'title': 'Enhanced Genomic Report', 'description': 'Those resulting in variants of significance will received routine clinical care and access to the enhanced genomic lab report.\n\nEnhanced Genomic Report: Routine clinical care vs. enhanced genomic report'}, {'id': 'BG002', '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'}]}, {'title': 'Between 18 and 65 years', 'measurements': [{'value': '24', 'groupId': 'BG000'}, {'value': '28', 'groupId': 'BG001'}, {'value': '52', 'groupId': 'BG002'}]}, {'title': '>=65 years', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '13', 'groupId': 'BG000'}, {'value': '16', 'groupId': 'BG001'}, {'value': '29', 'groupId': 'BG002'}]}, {'title': 'Male', 'measurements': [{'value': '11', 'groupId': 'BG000'}, {'value': '12', 'groupId': 'BG001'}, {'value': '23', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Ethnicity (NIH/OMB)', 'classes': [{'categories': [{'title': 'Hispanic or Latino', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '2', 'groupId': 'BG002'}]}, {'title': 'Not Hispanic or Latino', 'measurements': [{'value': '23', 'groupId': 'BG000'}, {'value': '26', 'groupId': 'BG001'}, {'value': '49', 'groupId': 'BG002'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '1', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '1', 'groupId': 'BG002'}]}]}], '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'}]}, {'title': 'Asian', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}, {'title': 'Native Hawaiian or Other Pacific Islander', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}, {'title': 'Black or African American', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}, {'title': 'White', 'measurements': [{'value': '23', 'groupId': 'BG000'}, {'value': '26', 'groupId': 'BG001'}, {'value': '49', 'groupId': 'BG002'}]}, {'title': 'More than one race', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '1', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '3', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Region of Enrollment', 'classes': [{'title': 'United States', 'categories': [{'measurements': [{'value': '24', 'groupId': 'BG000'}, {'value': '28', 'groupId': 'BG001'}, {'value': '52', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': "Child's WGS Result", 'classes': [{'categories': [{'title': 'Causal Variant Result', 'measurements': [{'value': '4', 'groupId': 'BG000'}, {'value': '3', 'groupId': 'BG001'}, {'value': '7', 'groupId': 'BG002'}]}, {'title': 'Non-Causal Variant Result', 'measurements': [{'value': '20', 'groupId': 'BG000'}, {'value': '25', 'groupId': 'BG001'}, {'value': '45', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'description': "Child's result after Whole Genome Sequencing (WGS). Results are either Causal Variant (CV) found or non-Causal Variant (NCV) found. CV indicates a positive result for the child (a genetic cause for the developmental delay). NCV indicates results were negative (no genetic cause or diagnosis for the child after sequencing).", 'unitOfMeasure': 'Participants'}, {'title': 'Education', 'classes': [{'categories': [{'title': 'Some high school (9-12)', 'measurements': [{'value': '4', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '4', 'groupId': 'BG002'}]}, {'title': 'High school graduate or GED', 'measurements': [{'value': '3', 'groupId': 'BG000'}, {'value': '7', 'groupId': 'BG001'}, {'value': '10', 'groupId': 'BG002'}]}, {'title': 'Post high school training other than college', 'measurements': [{'value': '2', 'groupId': 'BG000'}, {'value': '5', 'groupId': 'BG001'}, {'value': '7', 'groupId': 'BG002'}]}, {'title': 'Some college', 'measurements': [{'value': '7', 'groupId': 'BG000'}, {'value': '6', 'groupId': 'BG001'}, {'value': '13', 'groupId': 'BG002'}]}, {'title': "Bachelor's degree or equivalent", 'measurements': [{'value': '3', 'groupId': 'BG000'}, {'value': '6', 'groupId': 'BG001'}, {'value': '9', 'groupId': 'BG002'}]}, {'title': "Master's degree", 'measurements': [{'value': '4', 'groupId': 'BG000'}, {'value': '4', 'groupId': 'BG001'}, {'value': '8', 'groupId': 'BG002'}]}, {'title': 'Doctor or other professional degree', 'measurements': [{'value': '1', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '1', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'description': 'Highest level of education completed by participant', 'unitOfMeasure': 'Participants'}, {'title': 'Income', 'classes': [{'categories': [{'title': 'Less than $15,000', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '1', 'groupId': 'BG001'}, {'value': '1', 'groupId': 'BG002'}]}, {'title': '$15,000 to $29,999', 'measurements': [{'value': '3', 'groupId': 'BG000'}, {'value': '1', 'groupId': 'BG001'}, {'value': '4', 'groupId': 'BG002'}]}, {'title': '$30,000 to $44,999', 'measurements': [{'value': '2', 'groupId': 'BG000'}, {'value': '4', 'groupId': 'BG001'}, {'value': '6', 'groupId': 'BG002'}]}, {'title': '$45,000 to $59,999', 'measurements': [{'value': '6', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '8', 'groupId': 'BG002'}]}, {'title': '$60,000 to $89,999', 'measurements': [{'value': '4', 'groupId': 'BG000'}, {'value': '14', 'groupId': 'BG001'}, {'value': '18', 'groupId': 'BG002'}]}, {'title': '$90,000 to $149,999', 'measurements': [{'value': '3', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '5', 'groupId': 'BG002'}]}, {'title': '$150,000 to $199,999', 'measurements': [{'value': '3', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '5', 'groupId': 'BG002'}]}, {'title': '$200,000 or above', 'measurements': [{'value': '3', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '3', 'groupId': 'BG002'}]}, {'title': 'Missing', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '2', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'description': 'Total household income', 'unitOfMeasure': 'Participants'}, {'title': 'Health Literacy', 'classes': [{'categories': [{'title': 'Never', 'measurements': [{'value': '1', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '1', 'groupId': 'BG002'}]}, {'title': 'Occasionally', 'measurements': [{'value': '2', 'groupId': 'BG000'}, {'value': '4', 'groupId': 'BG001'}, {'value': '6', 'groupId': 'BG002'}]}, {'title': 'Sometimes', 'measurements': [{'value': '5', 'groupId': 'BG000'}, {'value': '4', 'groupId': 'BG001'}, {'value': '9', 'groupId': 'BG002'}]}, {'title': 'Often', 'measurements': [{'value': '2', 'groupId': 'BG000'}, {'value': '4', 'groupId': 'BG001'}, {'value': '6', 'groupId': 'BG002'}]}, {'title': 'Always', 'measurements': [{'value': '14', 'groupId': 'BG000'}, {'value': '15', 'groupId': 'BG001'}, {'value': '29', 'groupId': 'BG002'}]}, {'title': 'Missing', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '1', 'groupId': 'BG001'}, {'value': '1', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'description': 'How confident are you filling out forms by yourself?', 'unitOfMeasure': 'Participants'}, {'title': 'Numeracy', 'classes': [{'categories': [{'title': 'Very Easy', 'measurements': [{'value': '5', 'groupId': 'BG000'}, {'value': '6', 'groupId': 'BG001'}, {'value': '11', 'groupId': 'BG002'}]}, {'title': 'Easy', 'measurements': [{'value': '13', 'groupId': 'BG000'}, {'value': '12', 'groupId': 'BG001'}, {'value': '25', 'groupId': 'BG002'}]}, {'title': 'Hard', 'measurements': [{'value': '6', 'groupId': 'BG000'}, {'value': '9', 'groupId': 'BG001'}, {'value': '15', 'groupId': 'BG002'}]}, {'title': 'Very Hard', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}, {'title': 'Missing', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '1', 'groupId': 'BG001'}, {'value': '1', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'description': 'In general, how easy or hard do you find it to understand medical statistics', 'unitOfMeasure': 'Participants'}, {'title': "Access to Child's Record", 'classes': [{'categories': [{'title': 'None', 'measurements': [{'value': '12', 'groupId': 'BG000'}, {'value': '17', 'groupId': 'BG001'}, {'value': '29', 'groupId': 'BG002'}]}, {'title': '1-2 times', 'measurements': [{'value': '2', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '4', 'groupId': 'BG002'}]}, {'title': '3-5 times', 'measurements': [{'value': '5', 'groupId': 'BG000'}, {'value': '3', 'groupId': 'BG001'}, {'value': '8', 'groupId': 'BG002'}]}, {'title': '6-9 times', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '2', 'groupId': 'BG002'}]}, {'title': '10 or more times', 'measurements': [{'value': '4', 'groupId': 'BG000'}, {'value': '3', 'groupId': 'BG001'}, {'value': '7', 'groupId': 'BG002'}]}, {'title': 'Missing', 'measurements': [{'value': '1', 'groupId': 'BG000'}, {'value': '1', 'groupId': 'BG001'}, {'value': '2', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'description': "How many times did you access your child's health information online through the MyGeisinger website or app in the last 12 months?", 'unitOfMeasure': 'Participants'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'RANDOMIZED', 'maskingInfo': {'masking': 'SINGLE', 'whoMasked': ['PARTICIPANT'], 'maskingDescription': 'participants do not know whether they are in the intervention (enhanced report) or control (routine clinical care with delayed access to the enhanced report) arm'}, 'primaryPurpose': 'HEALTH_SERVICES_RESEARCH', 'interventionModel': 'PARALLEL', 'interventionModelDescription': 'intervention = routine clinical care for return of results per whole genome sequencing study with enhanced genetic test results report developed through phase 1 and 2 of this study.\n\nControl with delayed intervention = routine clinical care for return of results per whole genome sequencing study with crossover to receipt of enhanced report upon completion of baseline and 3 month post-baseline followup surveys. Participants in this arm will complete a third survey at 3 months post receipt of enhanced report'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 52}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2015-08', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-08', 'completionDateStruct': {'date': '2017-01-01', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2017-08-07', 'studyFirstSubmitDate': '2015-07-07', 'resultsFirstSubmitDate': '2017-03-30', 'studyFirstSubmitQcDate': '2015-07-20', 'lastUpdatePostDateStruct': {'date': '2018-02-12', 'type': 'ACTUAL'}, 'resultsFirstSubmitQcDate': '2017-03-30', 'studyFirstPostDateStruct': {'date': '2015-07-22', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2017-06-15', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2017-01-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Satisfaction With Genomic Test Report', 'timeFrame': '3 months after receipt of enhanced report', 'description': '3 questions on how helpful various parts of the test report were for parents who opened the enhanced report.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Whole Genome Sequencing', 'Laboratory Report', 'Patient Centered', 'Communication of Results', 'Patient Provider Communication'], 'conditions': ['Intellectual Disability', 'Autism', 'Multiple Congenital Anomalies']}, 'referencesModule': {'references': [{'pmid': '4704890', 'type': 'BACKGROUND', 'citation': 'Scriver CR, Neal JL, Saginur R, Clow A. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J. 1973 May 5;108(9):1111-5.'}, {'pmid': '10488011', 'type': 'BACKGROUND', 'citation': 'Wilson J. Acknowledging the expertise of patients and their organisations. BMJ. 1999 Sep 18;319(7212):771-4. doi: 10.1136/bmj.319.7212.771. No abstract available.'}, {'pmid': '18978677', 'type': 'BACKGROUND', 'citation': 'Levy HP, LoPresti L, Seibert DC. Twenty questions in genetic medicine--an assessment of World Wide Web databases for genetics information at the point of care. Genet Med. 2008 Sep;10(9):659-67. doi: 10.1097/gim.0b013e318180639d.'}, {'pmid': '15932829', 'type': 'BACKGROUND', 'citation': 'Morgan MA, Driscoll DA, Zinberg S, Schulkin J, Mennuti MT. Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening. Obstet Gynecol. 2005 Jun;105(6):1355-61. doi: 10.1097/01.AOG.0000163251.54416.a6.'}, {'pmid': '9062090', 'type': 'BACKGROUND', 'citation': 'Giardiello FM, Brensinger JD, Petersen GM, Luce MC, Hylind LM, Bacon JA, Booker SV, Parker RD, Hamilton SR. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med. 1997 Mar 20;336(12):823-7. doi: 10.1056/NEJM199703203361202.'}, {'pmid': '11545685', 'type': 'BACKGROUND', 'citation': 'Sandhaus LM, Singer ME, Dawson NV, Wiesner GL. Reporting BRCA test results to primary care physicians. Genet Med. 2001 Sep-Oct;3(5):327-34. doi: 10.1097/00125817-200109000-00001.'}, {'pmid': '16110718', 'type': 'BACKGROUND', 'citation': 'Bloom BS. Effects of continuing medical education on improving physician clinical care and patient health: a review of systematic reviews. Int J Technol Assess Health Care. 2005 Summer;21(3):380-5. doi: 10.1017/s026646230505049x.'}, {'pmid': '9372744', 'type': 'BACKGROUND', 'citation': 'Hammond EH, Flinner RL. Clinically relevant breast cancer reporting: using process measures to improve anatomic pathology reporting. Arch Pathol Lab Med. 1997 Nov;121(11):1171-5.'}, {'pmid': '15578888', 'type': 'BACKGROUND', 'citation': 'Laposata ME, Laposata M, Van Cott EM, Buchner DS, Kashalo MS, Dighe AS. Physician survey of a laboratory medicine interpretive service and evaluation of the influence of interpretations on laboratory test ordering. Arch Pathol Lab Med. 2004 Dec;128(12):1424-7. doi: 10.5858/2004-128-1424-PSOALM.'}, {'pmid': '19197001', 'type': 'BACKGROUND', 'citation': 'Lubin IM, McGovern MM, Gibson Z, Gross SJ, Lyon E, Pagon RA, Pratt VM, Rashid J, Shaw C, Stoddard L, Trotter TL, Williams MS, Amos Wilson J, Pass K. Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report. J Mol Diagn. 2009 Mar;11(2):162-71. doi: 10.2353/jmoldx.2009.080130. Epub 2009 Feb 5.'}, {'pmid': '22731646', 'type': 'BACKGROUND', 'citation': 'Scheuner MT, Hilborne L, Brown J, Lubin IM; members of the RAND Molecular Genetic Test Report Advisory Board. A report template for molecular genetic tests designed to improve communication between the clinician and laboratory. Genet Test Mol Biomarkers. 2012 Jul;16(7):761-9. doi: 10.1089/gtmb.2011.0328. Epub 2012 Jun 25.'}, {'pmid': '23222660', 'type': 'BACKGROUND', 'citation': 'Scheuner MT, Edelen MO, Hilborne LH, Lubin IM; RAND Molecular Genetic Test Report Advisory Board. Effective communication of molecular genetic test results to primary care providers. Genet Med. 2013 Jun;15(6):444-9. doi: 10.1038/gim.2012.151. 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This approach has the potential to improve outcomes from both the patient and provider perspectives.\n\nThe investigators propose to study the research question, "Can a genomic laboratory report tailored for both providers and families of patients improve interpretation of complex results and facilitate recommended care by enhancing communication and shared decision making?"', 'detailedDescription': "This is a mixed-methods will be conducted in multiple phases:\n\nPhase 1: development of an enhanced genomic test result report through in-depth interviews with parents and providers\n\nPhase 2: refine the report through parental focus groups and provider interviews and create the final report and delivery method.\n\nPhase 3: implement the enhanced test report and evaluate the impact on patient and providers\n\nSubjects for the study are parents of affected children enrolled in the Whole Genome Sequencing (WGS) Clinical Research Pilot Study (study within a study). All parents receive routine clinical care for WGS and clinical return of results per protocol of the WGS study.\n\nParents from the WGS study were invited to participate in phases 1 and 2 of this study to help design and test an enhanced genomic test report that would meet their needs for information about their child's condition and communication with providers, caregivers, teachers, and family.\n\nThis report in clinicaltrials.gov reports on phase 3 data only. The experimental design to be used for phase 3 of the project is a randomized, single-blinded pre- post-intervention trial with crossover.\n\nAccording to the WGS study protocol all results of the WGS testing will be provided by a geneticist and genetic counselor at an informing session. At this session, results will be returned and explained, recommendations provided and questions answered (routine clinical care). Following this session, parents will be randomized as couples based on whether their child received a result of a causal variant or non-causal variant to receive either routine clinical care with an enhanced report (intervention arm) or routine clinical care first followed by enhanced report (control with crossover). Randomizing parents as couples is necessary as randomization at the individual level would lead to contamination and spillover if one member of the couple were in the usual care arm and the other in the intervention arm.\n\nAfter routine clinical care to deliver the WGS test results and randomization, parents will be invited to participate in phase 3 to test the impact of the enhanced report on parental and provider satisfaction, communication, and knowledge. Parents will enter into phase 3 of the study (experimental design) by completing baseline surveys. Upon completion of baseline surveys, parents will be provided the enhanced report (intervention) or another copy of their standard lab report (control with crossover).\n\nAll parents will be surveyed at 3 months. Parents in the control with crossover arm will be provided the enhanced report at this time and sent another survey 3 month post enhanced report (6 month post baseline). Standard, validated, survey instruments will be utilized for the baseline and follow-up surveys; therefore, it is possible that important differences between the routine clinical care with crossover and intervention arms could be missed. To insure capture of all important differences and all impact of the enhanced genomic test result report, additional in-depth qualitative interviews will take place after the final survey post enhanced report is administered."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '21 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Research participants who are consented to participate in the WGS Study (#2012-0187).\n* Providers who have referred participants to the WGS Study (#2012-0187) and who have participated in the WGS genomic medicine workgroup or who have participated in the WGS Program Oversight Committee.\n\nExclusion Criteria:\n\n* Participants who are not consented to participate in the WGS Study (#2012-0187)\n* Providers who have not referred patients to the WGS Study (#2012-0187).\n* Providers who have not had a relationship with the oversight of the WGS study (#2012- 0187).'}, 'identificationModule': {'nctId': 'NCT02504502', 'briefTitle': 'Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients', 'organization': {'class': 'OTHER', 'fullName': 'Geisinger Clinic'}, 'officialTitle': 'Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients', 'orgStudyIdInfo': {'id': '2013-0594'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Enhanced genomic report', 'description': 'routine clinical care for return of results per whole genome sequencing study with enhanced genetic test results report developed through phase 1 and 2 of this study', 'interventionNames': ['Other: enhanced genomic report']}, {'type': 'OTHER', 'label': 'Control with delayed access', 'description': 'routine clinical care for return of results per whole genome sequencing study and no intervention through three months. This arm will crossover to receipt of enhanced report upon completion of baseline and 3 month post-baseline followup surveys. Participants in this arm will complete a third survey at 3 months post receipt of enhanced report', 'interventionNames': ['Other: enhanced genomic report']}], 'interventions': [{'name': 'enhanced genomic report', 'type': 'OTHER', 'description': 'a patient-centered version of a genomic results report delivered to patient through the electronic record portal', 'armGroupLabels': ['Control with delayed access', 'Enhanced genomic report']}]}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Marc S Williams, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Geisinger Genomic Medicine Institute'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Geisinger Clinic', 'class': 'OTHER'}, 'collaborators': [{'name': 'Patient-Centered Outcomes Research Institute', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Director, Genomic Medicine Institute', 'investigatorFullName': 'Marc S. Williams', 'investigatorAffiliation': 'Geisinger Clinic'}}}}