DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study

December 9, 2025 updated by: Mayo Clinic

MAYO CLINIC TAPESTRY: Use of Genomic Sequencing in Clinical Practice

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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

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.

Study Type

Interventional

Enrollment (Estimated)

110000

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Arizona
      • Scottsdale, Arizona, United States, 85259
        • Mayo Clinic in Arizona
    • Florida
      • Jacksonville, Florida, United States, 32224-9980
        • Mayo Clinic in Florida
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic in Rochester

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Screening
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: 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.
Other: Questionnaire Administration
Ancillary studies
Other: Diagnostic Laboratory Biomarker Analysis
Correlative studies
Procedure: Biospecimen Collection
Undergo collection of saliva, blood, urine and stool samples
Other Names:
  • Biological Sample Collection
  • Biospecimen Collected
  • Specimen Collection
Other: Genetic Counseling
Receive genetic counseling
Other: Questionnaire Administration
Complete family history

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Up to 5 years
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.
Up to 5 years
Patients' acceptance
Time Frame: Up to 5 years
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)
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.
Up to 5 years
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.
Up to 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Mayo Clinic

Collaborators

National Cancer Institute (NCI)

Investigators

  • Principal Investigator: Konstantinos N. Lazaridis, M.D., Mayo Clinic in Rochester

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 22, 2020

Primary Completion (Actual)

November 14, 2024

Study Completion (Estimated)

December 31, 2026

Study Registration Dates

First Submitted

February 4, 2021

First Submitted That Met QC Criteria

January 24, 2022

First Posted (Actual)

January 28, 2022

Study Record Updates

Last Update Posted (Estimated)

December 17, 2025

Last Update Submitted That Met QC Criteria

December 9, 2025

Last Verified

December 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 19-000001 (Mayo Clinic in Rochester)
  • NCI-2021-00497 (Registry Identifier: CTRP (Clinical Trial Reporting Program))
  • TAPESTRY (Other Identifier: Study Team)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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