DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study
NCT ID: NCT05212428
Last Updated: 2025-12-17
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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ACTIVE_NOT_RECRUITING
NA
110000 participants
INTERVENTIONAL
2020-01-22
2026-12-31
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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NA
SINGLE_GROUP
SCREENING
NONE
Study Groups
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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.
Biospecimen Collection
Undergo collection of saliva, blood, urine and stool samples
Diagnostic Laboratory Biomarker Analysis
Correlative studies
Genetic Counseling
Receive genetic counseling
Questionnaire Administration
Complete family history
Questionnaire Administration
Ancillary studies
Interventions
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Biospecimen Collection
Undergo collection of saliva, blood, urine and stool samples
Diagnostic Laboratory Biomarker Analysis
Correlative studies
Genetic Counseling
Receive genetic counseling
Questionnaire Administration
Complete family history
Questionnaire Administration
Ancillary studies
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* 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
* 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
18 Years
ALL
No
Sponsors
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Mayo Clinic
OTHER
Responsible Party
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Principal Investigators
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Konstantinos N. Lazaridis, M.D.
Role: PRINCIPAL_INVESTIGATOR
Mayo Clinic in Rochester
Locations
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Mayo Clinic in Arizona
Scottsdale, Arizona, United States
Mayo Clinic in Florida
Jacksonville, Florida, United States
Mayo Clinic in Rochester
Rochester, Minnesota, United States
Countries
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References
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Samadder NJ, Schroeder M, Voss MM, Shamoun F, Kullo I, Curry TB, Houwink EJF, Bublitz ML, Bandel LA, Armasu SM, Vierkant RA, Ferber MJ, Olson R, Tan-Arroyo J, Morales-Rosado JA, Klee EW, Larson NB, Kruisselbrink TM, Egan JB, Kemppainen JL, Bidwell JS, Anderson JL, McAllister TM, Baudhuin LM, Kunze KL, Golafshar MA, Presutti RJ, Summer-Bolster JM, Lazaridis KN. Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System. Circ Genom Precis Med. 2025 Nov 12:e005174. doi: 10.1161/CIRCGEN.125.005174. Online ahead of print.
Bandel LA, Vierkant RA, Kruisselbrink TM, Bublitz ML, Wilson TA, Armasu SM, Egan JB, Presutti RJ, Samadder NJJ, Sekulic A, Olson RJ, Tan-Arroyo J, Morales-Rosado JA, Klee EW, Ferber MJ, Kemppainen JL, Anderson JL, Bidwell JS, Wick JJ, Ortega VE, Bobo WV, Pichurin PN, Mcmillan JM, Weaver DM, Riegert-Johnson DL, Cera AM, Boucher LM, Kullo IJ, Mantia SK, Jones MT, Larson NB, Luehrs TC, Leitzke JW, Sicotte H, Tian S, Stavlund JR, Pacyna JE, Sharp RR, Asabere AA, Lu J, McAllister TM, Walker TS, Stewart AK, Farrugia G, Lazaridis KN. Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education. Mayo Clin Proc. 2024 Nov 5:S0025-6196(24)00405-1. doi: 10.1016/j.mayocp.2024.08.005. Online ahead of print.
Samadder NJ, Gay E, Lindpere V, Bublitz ML, Bandel LA, Armasu SM, Vierkant RA, Ferber MJ, Klee EW, Larson NB, Kruisselbrink TM, Egan JB, Kemppainen JL, Bidwell JS, Anderson JL, McAllister TM, Walker TS, Kunze KL, Golafshar MA, Klint MA, Presutti RJ, Bobo WV, Sekulic A, Summer-Bolster JM, Willman CL, Lazaridis KN. Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations. JCO Precis Oncol. 2024 Jul;8:e2400106. doi: 10.1200/PO.24.00106.
Related Links
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Mayo Clinic Clinical Trials
Other Identifiers
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NCI-2021-00497
Identifier Type: REGISTRY
Identifier Source: secondary_id
TAPESTRY
Identifier Type: OTHER
Identifier Source: secondary_id
19-000001
Identifier Type: -
Identifier Source: org_study_id