MAYO CLINIC TAPESTRY: Use of Genomic Sequencing in Clinical Practice
Trial Snapshot
- Phase
- Not Applicable
- Status
- Active, not recruiting
- Sponsor
- Mayo Clinic
- Enrollment
- 110,000
- Locations
- 6
- Primary Endpoint
- Effect of actionable genetic findings of patients on health-care utilization
Study Overview
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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Screening
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Age >= 18 years
- •Registered Mayo Clinic patient
- •Able to provide informed written consent
- •E-mail and web access (for electronic consent, video education, registering with Helix and receiving results)
- •Ability to collect and ship saliva sample within the United States
- •Of note: Women, who are pregnant, or planning to become pregnant, can take part in this study. However, this study does not replace prenatal genetic testing. If participants have these concerns, they will be encouraged to contact their obstetrics (OB) provider or a genetic counselor to discuss further
Exclusion Criteria
- •Other co-morbidity which would in physician's opinion interferes with patient's ability to participate in the study (eg: reduced ability to comprehend eg: dementia, intellectual disability, fluency in consent language)
- •Allogeneic bone marrow transplant (e.g. samples from autologous bone marrow transplant recipients are acceptable if collected at least one month after transplant)
- •Active hematological cancer or history of a hematological cancer
- •Resident of the state of New York
- •The Helix lab does not currently have New York state licensure
- •Residents without a shipping address in the United States
- •The Helix lab is unable to ship and receive samples internationally
Arms & Interventions
Screening (biospecimen collection, genetic analysis)
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.
Intervention: Genetic Counseling (Other)
Screening (biospecimen collection, genetic analysis)
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.
Intervention: Questionnaire Administration (Other)
Screening (biospecimen collection, genetic analysis)
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.
Intervention: Biospecimen Collection (Procedure)
Screening (biospecimen collection, genetic analysis)
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.
Intervention: Diagnostic Laboratory Biomarker Analysis (Other)
Outcomes
Primary Outcomes
Effect of actionable genetic findings of patients on health-care utilization
Time Frame: Up to 5 years
Medical records will be reviewed for evidence that patients take active participation in managing genetic risks. Additionally, patients will be surveyed as to their experience with genomic based testing. Standard descriptive statistics approaches will be used for analysis.
Patients' acceptance
Time Frame: Up to 5 years
Standard descriptive statistics approaches will be used for analysis.
Actionable genetic findings derived from whole exome sequencing (WES) testing
Time Frame: Up to 5 years
Patients will be asked to complete a family history as part of this study. The family history will be assessed to determine the percentage of participants with evidence of genetic risk for the actionable finding. Standard descriptive statistics approaches will be used for analysis.
Creation of a unique vertically integrated data asset (Mayo Clinic Health Tapestry)
Time Frame: Up to 5 years
A variety of patient cohorts will be ascertained throughout this study. Data will be made available to researchers to query correlations of disease states and clinical outcomes to genomic findings. These insights will be invaluable to creating genomic informed care plans in the future. Standard descriptive statistics approaches will be used for analysis.
Genetic predisposition to coronavirus disease 2019 (COVID-19) disease
Time Frame: Up to 5 years
Will examine the genetic variants derived from the WES data that associate with COVID-19 outcomes. Standard descriptive statistics approaches will be used for analysis.
Secondary Outcomes
No secondary outcomes reported