Return of Actionable Variants Empirical Study (RAVE)

Mayo Clinic

Status: Completed

Conditions: Familial Hypercholesterolemia

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT03640234

U01HG006379 (U.S. NIH Grant/Contract)

15-005013

Details and patient eligibility

About

This is a genomic implementation project with ancillary studies to understand the impact on patients' health and well-being of returning genomic results to them and depositing those results in the medical record.

Full description

Study participant DNA samples will be sequenced for 109 genes of interest along with genotyping of select polymorphisms. Genetic tests will be performed in a Clinical Laboratory Improvement Amendments (CLIA) certified lab (Baylor Human Genome Sequencing Laboratory). Selected results (pathogenic/likely pathogenic) will be returned to participants by a genetic counselor and deposited into the Electronic Health Record (EHR).

Enrollment: 418 patients

Sex: All

Ages: 18 to 70 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Moderate to Severe Hypercholesterolemia, elevated triglycerides, or colon polyps
• Resident of southeast Minnesota area
• Able to provide informed consent
• Current participant in the Mayo Clinic Biobank (08-007049, Cerhan PI), the Vascular Disease Biorepository (08-008355, Kullo PI), or the Study of the Genetic Determinants of Peripheral Artery Disease (PAD) (06-002911, Kullo PI) with blood derived DNA available

Exclusion criteria

• Pregnant women will be allowed to enroll in the study. This is not an interventional study and there will be no risk to the mother or neonate. Other vulnerable study populations will be excluded.