Return of Actionable Variants Empirical

Overview

About this study

The purpose of this study is to conduct a genomic medicine implementation project to establish mechanisms for return of actionable findings from targeted sequencing of ~109 disease-relevant genes and genotyping of select polymorphisms in a large study setting (eMERGE III consortium). A primary focus of the Mayo group will be on two common actionable genetic disorders–familial hyperlipidemia (FH) and familial colorectal cancer (CRC).

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

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
Moderate to severe hypercholesterolemia, elevated triglycerides or colon polyps
Age 0 to 70 years
Resident of SE Minnesota area
Able to provide informed consent

Specific Aim 3 – Clinical Trial of FH

Cases:
- Proband with mutation in FH-related gene
  - First degree family member of above
Age, sex and LDL-C matched Controls:
- Proband with no mutation identified in FH related gene
  - First degree family member of above

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

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location	Status	Contact
Rochester, Minn. Mayo Clinic principal investigator Richard Sharp, Ph.D.	Closed for enrollment	Contact information: David Kochan (507)284-5467 Kochan.David@mayo.edu

Mayo Clinic Location

Status

Contact

Rochester, Minn.

Mayo Clinic principal investigator

Richard Sharp, Ph.D.

Closed for enrollment

Contact information:

David Kochan

(507)284-5467

Kochan.David@mayo.edu

More information

Publications

Publications are currently not available

Clinical Trials