Clinical trial NCT03640234: Return of Actionable Variants Empirical Study
Official title: Return of Actionable Variants Empirical (RAVE) Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Familial Hypercholesterolemia
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
name: National Human Genome Research Institute (NHGRI)
First posted: 2018-08-21
Enrollment: 418
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: We recruited 3030 participants from Mayo Clinic biobanks in Rochester, MN, who had hypercholesterolemia, colon polyps or both, thereby enriching for FH.

Brief summary: 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.

Detailed 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).

Eligibility criteria: 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.

Primary outcomes:
measure: Participant utilization of clinical resources following the return of medically actionable genetic variants.
timeFrame: Feb 2016-June 2020
Secondary outcomes:
measure: The number of new cases detected as a result of cascade screening in the family members
timeFrame: Feb 2017- Dec 2020
measure: Total Expense due to disclosure of actionable variants
timeFrame: 4 years
measure: Participant intent-to-share genetic test results
timeFrame: Sept 2017-June 2020
measure: Number of first-degree relatives per proband and number of contacted first-degree relatives per proband
timeFrame: Sept 2017-Dec 2020
measure: Family member uptake of genetic testing
timeFrame: Sept 2017- Dec 2020
Other outcomes:
Locations:
Study officials:
References:
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