DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study

NCT05212428 | Active Not Recruiting

• 3 other identifiers: 19-000001NCI-2021-00497TAPESTRY
• Study Type: interventional
• Target: 110,000
• Locations: 1 country
• Sites: 3

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.

Conditions

Genetic Disorder

Outcome Measures

Primary Outcomes (5)

• Actionable genetic findings derived from whole exome sequencing (WES) testing

  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.

  Up to 5 years

• Effect of actionable genetic findings of patients on health-care utilization

  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.

  Up to 5 years

• Patients' acceptance

  Standard descriptive statistics approaches will be used for analysis.

  Up to 5 years

• Creation of a unique vertically integrated data asset (Mayo Clinic Health Tapestry)

  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.

  Up to 5 years

• Genetic predisposition to coronavirus disease 2019 (COVID-19) disease

  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.

  Up to 5 years

Study Arms (1)

Screening (biospecimen collection, genetic analysis)

EXPERIMENTAL

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.

Procedure: Biospecimen Collection; Other: Diagnostic Laboratory Biomarker Analysis; Other: Genetic Counseling; Other: Questionnaire Administration

Interventions

Biospecimen Collection PROCEDURE

Undergo collection of saliva, blood, urine and stool samples

Also known as: Biological Sample Collection, Biospecimen Collected, Specimen Collection

Screening (biospecimen collection, genetic analysis)

Diagnostic Laboratory Biomarker Analysis OTHER

Correlative studies

Screening (biospecimen collection, genetic analysis)

Genetic Counseling OTHER

Receive genetic counseling

Screening (biospecimen collection, genetic analysis)

Questionnaire Administration OTHER

Complete family history

Screening (biospecimen collection, genetic analysis)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (3)

Mayo Clinic in Arizona

Scottsdale, Arizona, 85259, United States

Location

Mayo Clinic in Florida

Jacksonville, Florida, 32224-9980, United States

Location

Mayo Clinic in Rochester

Rochester, Minnesota, 55905, United States

Location

Related Publications (3)

• 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 Dec;18(6):e005174. doi: 10.1161/CIRCGEN.125.005174. Epub 2025 Nov 12.

  PMID: 41221644 DERIVED

• 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.

  PMID: 39625429 DERIVED

• 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.

  PMID: 39013133 DERIVED

Related Links

• Mayo Clinic Clinical Trials

MeSH Terms

Conditions

Genetic Diseases, Inborn

Interventions

Specimen Handling; Genetic Counseling

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services

Study Officials

• Konstantinos N. Lazaridis, M.D.

  Mayo Clinic in Rochester

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 4, 2021
• First Posted: January 28, 2022
• Study Start: January 22, 2020
• Primary Completion: November 14, 2024
• Study Completion (Estimated): December 31, 2026
• Last Updated: December 17, 2025

Record last verified: 2025-12

Locations

US (3)