DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study
Genetic Disorder
About this trial
This is an interventional screening trial for Genetic Disorder
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
Sites / Locations
- Mayo Clinic in ArizonaRecruiting
- Mayo Clinic in FloridaRecruiting
- Mayo Clinic in RochesterRecruiting
Arms of the Study
Arm 1
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.