Ignite Creation Date:
2025-12-26 @ 11:11 AM
Ignite Modification Date:
2025-12-31 @ 1:17 PM
Study NCT ID:
NCT05212428
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-12-17
First Post:
2021-02-04
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study
Sponsor:
Mayo Clinic
Organization:
Study Overview
Official Title:
MAYO CLINIC TAPESTRY: Use of Genomic Sequencing in Clinical Practice
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2025-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
This clinical trial collects information on how sequencing a patient's deoxyribonucleic acid (DNA) (i.e., the genetic material) could impact their health care. This study also develops and improves ways to include genomic information from DNA sequencing into the electronic health record to create a more complete "Health Tapestry" for each participant. Sequencing of a patient's DNA leads to the detection of genetic variants some of which determine risk for disease development. Discovery of those genetic variants in a patient could result in prevention, earlier diagnosis or better therapy of disease.
Detailed Description:
PRIMARY OBJECTIVES:
I. To detect and compare the actionable genetic findings derived from whole exome sequencing (WES) testing and examine their frequency and association with family history using a large cohort of patients seen across specialties within the Mayo Clinic enterprise.
II. To assess the effect of actionable genetic findings of patients on health-care utilization, and patients acceptance.
III. To create a unique vertically integrated data asset (Mayo Clinic Health Tapestry) that links genomics and other omics information to traditional health parameters in the Electronic Medical Record (EMR) with the aim to elucidate disease formation and outcomes.
IV. Assess the frequency of hereditary cancer predisposition genes (BRCA1, BRCA2, Lynch syndrome mismatch repair \[MMR\] genes) through population screening using WES and the uptake of genetic counseling.
V. To study the genetic predisposition to coronavirus disease 2019 (COVID-19) disease we propose using a COVID-19 survey.
VI. Assess the recruitment rate of those approached by portal and email. VII. Assess differential consent rates by combinations of mode of invitation (initial contact via email or patient portal) and content of material (standard invitation content vs. enhanced content with improved language and visual display) in one cohort.
OUTLINE:
Participants receive a saliva kit, register with Helix then undergo collection of saliva sample which is returned o Helix. Participants also receive an online link to complete the About Me family history. Once sequencing is completed by Helix, ancestry/trait information and genetic findings are shared with participants and their primary provider, if applicable. Participants with positive results are offered genetic counseling and are encouraged to seek clinical confirmatory testing. Following clinical confirmation, results are scanned into the electronic health record. Participants may also undergo the collection of blood, urine, and stool samples for future studies.
I. To detect and compare the actionable genetic findings derived from whole exome sequencing (WES) testing and examine their frequency and association with family history using a large cohort of patients seen across specialties within the Mayo Clinic enterprise.
II. To assess the effect of actionable genetic findings of patients on health-care utilization, and patients acceptance.
III. To create a unique vertically integrated data asset (Mayo Clinic Health Tapestry) that links genomics and other omics information to traditional health parameters in the Electronic Medical Record (EMR) with the aim to elucidate disease formation and outcomes.
IV. Assess the frequency of hereditary cancer predisposition genes (BRCA1, BRCA2, Lynch syndrome mismatch repair \[MMR\] genes) through population screening using WES and the uptake of genetic counseling.
V. To study the genetic predisposition to coronavirus disease 2019 (COVID-19) disease we propose using a COVID-19 survey.
VI. Assess the recruitment rate of those approached by portal and email. VII. Assess differential consent rates by combinations of mode of invitation (initial contact via email or patient portal) and content of material (standard invitation content vs. enhanced content with improved language and visual display) in one cohort.
OUTLINE:
Participants receive a saliva kit, register with Helix then undergo collection of saliva sample which is returned o Helix. Participants also receive an online link to complete the About Me family history. Once sequencing is completed by Helix, ancestry/trait information and genetic findings are shared with participants and their primary provider, if applicable. Participants with positive results are offered genetic counseling and are encouraged to seek clinical confirmatory testing. Following clinical confirmation, results are scanned into the electronic health record. Participants may also undergo the collection of blood, urine, and stool samples for future studies.
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: