Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations
https://www.facingourrisk.org/XRAY/inaccurate-dtc-results
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
The following clinical trials include genetic counseling and testing.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women ages 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- NCT05562778: Chatbot to maximize hereditary cancer genetic risk assessment. Researchers are testing whether a mobile health platform, known as a "chatbot" can improve rates of genetic testing among Medicaid patients with an elevated risk having an inherited mutation.
- NCT05427240: eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eReach2). This study will look at the effectiveness of offering web-based options for pre/post-test genetic counseling to provide equal or improved timely uptake of genetic services and testing.
- NCT05694559: Connecting Black Families in Houston, Texas to Hereditary Cancer Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.
Other genetic counseling or testing studies may be found here.
About FORCE
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.