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23andME genetic testing

Clinical significance: - direct to consumer genetic testing* provides information on genetic predisposition to: - late-onset Alzheimer's disease - Parkinson's disease - celiac disease - alpha1-antitrypsin deficiency - early-onset primary dystonia - factor XI deficiency - Gaucher disease type 1 - glucose-6-phosphate dehydrogenase deficiency - hereditary hemochromatosis - hereditary thrombophilia * FDA-approval April 2017 Notes: - 23andME 1st direct to consumer genetic test FDA-approved in February 2015 identified a person's carrier status for Bloom syndrome - 23andME has also received FDA approval for direct to consumer marketing of genetic tests for risk factors for - cystic fibrosis - sickle cell anemia - Tay-Sachs disease [1] - breast cancer [2] - reports 3 of > 1000 known BRCA mutations [2] - FDA-approved testing for genetic variants that may affect ability to metabolize certain drugs

General

direct-to-consumer laboratory testing DNA (genetic) testing

References

  1. Lowes T FDA OKs First Direct-to-Consumer Genetic Risk Tests Medscape. Apr 06, 2017. http://www.medscape.com/viewarticle/878287 - FDA News Release. April 6, 2017 FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions. https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm
  2. FDA News Release. March 6, 2018 FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes. https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm599560.htm
  3. FDA News Release. Oct 23, 2018 FDA authorizes first direct-to-consumer test for detecting genetic variants that may be associated with medication metabolism. https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm624753.htm