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DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05212428
Recruitment Status : Recruiting
First Posted : January 28, 2022
Last Update Posted : March 24, 2023
Sponsor:
Information provided by (Responsible Party):
Mayo Clinic

Study Description
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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.

Condition or disease Intervention/treatment Phase
Genetic Disorder Procedure: Biospecimen Collection Other: Diagnostic Laboratory Biomarker Analysis Other: Genetic Counseling Other: Questionnaire Administration Not Applicable

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.

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 Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100000 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Official Title: MAYO CLINIC TAPESTRY: Use of Genomic Sequencing in Clinical Practice
Actual Study Start Date : January 22, 2020
Estimated Primary Completion Date : December 31, 2025
Estimated Study Completion Date : December 31, 2026
Arms and Interventions
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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.
 Procedure: Biospecimen Collection
Undergo collection of saliva, blood, urine and stool samples
Other Names:
  • Biological Sample Collection
  • Biospecimen Collected
  • Specimen Collection

Other: Diagnostic Laboratory Biomarker Analysis
Correlative studies

Other: Genetic Counseling
Receive genetic counseling

Other: Questionnaire Administration
Complete family history

Other: Questionnaire Administration
Ancillary studies


Outcome Measures
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Primary Outcome Measures :
  1. 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.

  2. 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.

  3. Patients' acceptance [ Time Frame: Up to 5 years ]
    Standard descriptive statistics approaches will be used for analysis.

  4. 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.

  5. 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.


Eligibility Criteria
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Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05212428


Locations
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United States, Arizona
Mayo Clinic in Arizona Recruiting
Scottsdale, Arizona, United States, 85259
Contact: Clinical Trials Referral Office    855-776-0015    mayocliniccancerstudies@mayo.edu   
Principal Investigator: Aleksandar Sekulic, M.D.         
United States, Florida
Mayo Clinic in Florida Recruiting
Jacksonville, Florida, United States, 32224-9980
Contact: Clinical Trials Referral Office    855-776-0015    mayocliniccancerstudies@mayo.edu   
Principal Investigator: Sanjay P. Bagaria, M.D.         
United States, Minnesota
Mayo Clinic in Rochester Recruiting
Rochester, Minnesota, United States, 55905
Contact: Clinical Trials Referral Office    855-776-0015    mayocliniccancerstudies@mayo.edu   
Principal Investigator: Konstantinos N. Lazaridis, M.D.         
Sponsors and Collaborators
Mayo Clinic
Investigators
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Principal Investigator: Konstantinos N Lazaridis Mayo Clinic in Rochester
More Information
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Responsible Party: Mayo Clinic
ClinicalTrials.gov Identifier: NCT05212428    
Other Study ID Numbers: 19-000001
NCI-2021-00497 ( Registry Identifier: CTRP (Clinical Trial Reporting Program) )
TAPESTRY
First Posted: January 28, 2022    Key Record Dates
Last Update Posted: March 24, 2023
Last Verified: March 2023

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Genetic Diseases, Inborn