Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations
Full article: https://www.nature.com/articles/gim201838
A clinical genetic testing laboratory examined results from direct-to-consumer genetic testing ordered directly by patients. They found many instances of false positives—reported mutations that were not actually present—and in some cases, reports of variants that "increased risk," but were actually benign. This study emphasized the importance of involving genetics experts in the interpretation of genetic test results. (6/28/18)
Questions To Ask Your Health Care Provider
- Is genetic testing warranted for me, given my personal and family history?
- If testing is appropriate, what is the most appropriate and useful genetic test for me given my own medical history and my family history?
- How do I get confirmation testing for mutations found by a DTC test?
- How can I get a referral to a certified genetic counselor to discuss my genetic test results?
- Are the mutations found in my DTC test likely benign, pathogenic or of unknown significance? What follow-up is recommended?
Open Clinical Trials
Below are clinical trials that include genetic counseling and testing.
Other genetic counseling or testing studies may be found here.
FORCE is a national nonprofit organization, established in 1999. Our mission is to improve the lives of individuals and families affected by adult hereditary cancers.