Genetic DisorderNCT05212428
DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study
A study testing Biospecimen Collection, Diagnostic Laboratory Biomarker Analysis and Genetic Counseling in people with Genetic Disorder, run by Mayo Clinic at 3 sites in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Genetic Disorder
- What is being tested?
- Biospecimen Collection, Diagnostic Laboratory Biomarker Analysis and Genetic Counseling
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 110,000 participants
- Where
- 3 sitesUnited States
- Study dates
- 22 Jan 2020to 30 Nov 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Mayo Clinic in Florida
Jacksonville, Florida, 32224-9980
Mayo Clinic in Rochester
Rochester, Minnesota, 55905
Mayo Clinic in Arizona
Scottsdale, Arizona, 85259
About this study
Official title: 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.
Read the detailed description
PRIMARY OBJECTIVES:
- 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.
- 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
- Genetic Disorder
- Being tested
- Biospecimen Collection, Diagnostic Laboratory Biomarker Analysis, Genetic Counseling, Questionnaire Administration
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biospecimen CollectionProcedure or surgery
Also called Biological Sample Collection, Biospecimen Collected, Specimen Collection
Undergo collection of saliva, blood, urine and stool samples
Diagnostic Laboratory Biomarker AnalysisOther
Correlative studies
Genetic CounselingOther
Receive genetic counseling
Questionnaire AdministrationOther
Complete family history
Questionnaire AdministrationOther
Ancillary studies
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Procedure: Biospecimen Collection; Other: Diagnostic Laboratory Biomarker Analysis; Other: Genetic Counseling; Other: Questionnaire Administration |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Up to 5 years
Patients' acceptance
Standard descriptive statistics approaches will be used for analysis.
Measured: 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.
Measured: 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.
Measured: Up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jan 2022
- Study start22 Jan 2020
- Primary completion14 Nov 2024
- Study completion30 Nov 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Genetic DisorderStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 110,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Konstantinos N. Lazaridis, M.D., Principal investigator, Mayo Clinic in Rochester
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05212428
- Sponsor's protocol ID
- 19-000001
- Other IDs
- TAPESTRY
- Status last verified
- Jun 2026
- First submitted
- 4 Feb 2021
- Last updated
- 10 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 41221644Bandel 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.
PubMed 39625429Samadder 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.
PubMed 39013133
Study at a glance
From the registry record, last updated by the sponsor on 10 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- MAYO CLINIC TAPESTRY: Use of Genomic Sequencing in Clinical Practice
- ClinicalTrials.gov ID
- NCT05212428
- Acronym / sponsor ID
- 19-000001
- Conditions
- Genetic Disorder
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 110,000 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- 22 Jan 2020 (actual)
- Primary completion
- 14 Nov 2024 (actual)
- Study completion
- 30 Nov 2029 (estimated)
- First posted
- 28 Jan 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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.
- 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 design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Screening (biospecimen collection, genetic analysis) | Experimental | Procedure: Biospecimen Collection, Other: Diagnostic Laboratory Biomarker Analysis, Other: Genetic Counseling, Other: Questionnaire AdministrationParticipants 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (7 listed)
- 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
- Residents without a shipping address in the United States
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Biospecimen CollectionAlso: Biological Sample Collection, Biospecimen Collected, Specimen CollectionUndergo collection of saliva, blood, urine and stool samples | Procedure or surgery | Screening (biospecimen collection, genetic analysis) |
| Diagnostic Laboratory Biomarker AnalysisCorrelative studies | Other | Screening (biospecimen collection, genetic analysis) |
| Genetic CounselingReceive genetic counseling | Other | Screening (biospecimen collection, genetic analysis) |
| Questionnaire AdministrationComplete family history | Other | Screening (biospecimen collection, genetic analysis) |
| Questionnaire AdministrationAncillary studies | Other | Screening (biospecimen collection, genetic analysis) |
Primary outcome
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.
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.
Patients' acceptance
Time frame: Up to 5 years
Standard descriptive statistics approaches will be used for analysis.
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.
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Jun 2026.
- Derived from this study: PubMed 41221644Samadder 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.
- Derived from this study: PubMed 39625429Bandel 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.
- Derived from this study: PubMed 39013133Samadder 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.
- Mayo Clinic Clinical TrialsLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Konstantinos N. Lazaridis, M.D. principal investigator
Mayo Clinic in Rochester
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Biospecimen Collection, Diagnostic Laboratory Biomarker Analysis and Genetic Counseling in people with Genetic Disorder, run by Mayo Clinic at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 10 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Actionable genetic findings derived from whole exome sequencing (WES) testing (time frame: Up to 5 years). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05212428, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Jun 2026.