FindMyVariant Research Study
The FindMyVariant research study is closed.
The University of Washington is now offering a clinical Family Variant Classification test modeled after the study.
If you previously enrolled in the study and have not yet received a variant reclassification, the study team will continue to gather information about your family and test your relatives until your variant of uncertain significance (VUS) is reclassified, or until you decide otherwise.
Study Results
An article on the FindMyVariant study outcomes was published in Genetics in Medicine in October 2018. Please see below for highlights.
For 50 families who had been enrolled in the FindMyVariant study for at least one year:
► 61% of VUS were reclassified (7x more VUS reclassified compared to a major commercial lab, which reclassified less than 8% of VUS over 12 years)
► 4.5 relatives per family received familial VUS testing on average (8x more relatives tested than in a major commercial lab, which only tested 0.5 relatives per family on average)
Family data contributed reclassification of 83% of VUS
► Rapid reclassification (8 days) of a pathogenic variant in a Lynch syndrome gene (MSH2) after compilation of clinical testing results
► Reclassification of a likely pathogenic variant in an autosomal recessive colon cancer gene (MUTYH) after testing multiple siblings
► Reclassification of likely benign variant in a colon polyposis gene (APC) in a small family, after finding out the parent with many colon polyps did not have the variant, and the parent with no colon polyps had the variant
A manuscript describing patients’ experiences in the study will be published in the Journal of Genetic Counseling in late 2018.
For questions, comments, or information about the study and/or the clinical Family Variant test, please contact:
- Ginger Tsai, M.S., L.C.G.C.
- (617) 733-3930 or (206) 598-6807
- findmyvariant@uw.edu