search
Back to results

DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study

Primary Purpose

Genetic Disorder

Status
Recruiting
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Biospecimen Collection
Diagnostic Laboratory Biomarker Analysis
Genetic Counseling
Questionnaire Administration
Questionnaire Administration
Sponsored by
Mayo Clinic
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional screening trial for Genetic Disorder

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • Mayo Clinic in ArizonaRecruiting
  • Mayo Clinic in FloridaRecruiting
  • Mayo Clinic in RochesterRecruiting

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Screening (biospecimen collection, genetic analysis)

Arm Description

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.

Outcomes

Primary Outcome Measures

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.
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.
Patients' acceptance
Standard descriptive statistics approaches will be used for analysis.
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.
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.

Secondary Outcome Measures

Full Information

First Posted
February 4, 2021
Last Updated
October 16, 2023
Sponsor
Mayo Clinic
search

1. Study Identification

Unique Protocol Identification Number
NCT05212428
Brief Title
DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study
Official Title
MAYO CLINIC TAPESTRY: Use of Genomic Sequencing in Clinical Practice
Study Type
Interventional

2. Study Status

Record Verification Date
October 2023
Overall Recruitment Status
Recruiting
Study Start Date
January 22, 2020 (Actual)
Primary Completion Date
December 31, 2025 (Anticipated)
Study Completion Date
December 31, 2026 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Mayo Clinic

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

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. 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Genetic Disorder

7. Study Design

Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
110000 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Screening (biospecimen collection, genetic analysis)
Arm Type
Experimental
Arm Description
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 Type
Procedure
Intervention Name(s)
Biospecimen Collection
Other Intervention Name(s)
Biological Sample Collection, Biospecimen Collected, Specimen Collection
Intervention Description
Undergo collection of saliva, blood, urine and stool samples
Intervention Type
Other
Intervention Name(s)
Diagnostic Laboratory Biomarker Analysis
Intervention Description
Correlative studies
Intervention Type
Other
Intervention Name(s)
Genetic Counseling
Intervention Description
Receive genetic counseling
Intervention Type
Other
Intervention Name(s)
Questionnaire Administration
Intervention Description
Complete family history
Intervention Type
Other
Intervention Name(s)
Questionnaire Administration
Intervention Description
Ancillary studies
Primary Outcome Measure Information:
Title
Actionable genetic findings derived from whole exome sequencing (WES) testing
Description
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.
Time Frame
Up to 5 years
Title
Effect of actionable genetic findings of patients on health-care utilization
Description
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.
Time Frame
Up to 5 years
Title
Patients' acceptance
Description
Standard descriptive statistics approaches will be used for analysis.
Time Frame
Up to 5 years
Title
Creation of a unique vertically integrated data asset (Mayo Clinic Health Tapestry)
Description
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.
Time Frame
Up to 5 years
Title
Genetic predisposition to coronavirus disease 2019 (COVID-19) disease
Description
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.
Time Frame
Up to 5 years

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility 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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Konstantinos N. Lazaridis, M.D.
Organizational Affiliation
Mayo Clinic in Rochester
Official's Role
Principal Investigator
Facility Information:
Facility Name
Mayo Clinic in Arizona
City
Scottsdale
State/Province
Arizona
ZIP/Postal Code
85259
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Clinical Trials Referral Office
Phone
855-776-0015
Email
mayocliniccancerstudies@mayo.edu
First Name & Middle Initial & Last Name & Degree
Aleksandar Sekulic, M.D.
Facility Name
Mayo Clinic in Florida
City
Jacksonville
State/Province
Florida
ZIP/Postal Code
32224-9980
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Clinical Trials Referral Office
Phone
855-776-0015
Email
mayocliniccancerstudies@mayo.edu
First Name & Middle Initial & Last Name & Degree
Sanjay P. Bagaria, M.D.
Facility Name
Mayo Clinic in Rochester
City
Rochester
State/Province
Minnesota
ZIP/Postal Code
55905
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Clinical Trials Referral Office
Phone
855-776-0015
Email
mayocliniccancerstudies@mayo.edu
First Name & Middle Initial & Last Name & Degree
Konstantinos N. Lazaridis, M.D.

12. IPD Sharing Statement

Links:
URL
https://www.mayo.edu/research/clinical-trials
Description
Mayo Clinic Clinical Trials

Learn more about this trial

DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study

We'll reach out to this number within 24 hrs