Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?

Affiliations

¹ Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, Stanford, California, USA.
² Johns Hopkins University Department of Medicine, Division of Cardiology, Baltimore, Maryland, USA.
³ Sibley Heart Center Cardiology, Children's Healthcare of Atlanta, Atlanta, Georgia, USA. demoe@kidsheart.com.

Case Reports

Tia Moscarello et al. Genet Med. 2019 Mar.

. 2019 Mar;21(3):539-541.

doi: 10.1038/s41436-018-0097-2. Epub 2018 Jul 12.

¹ Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, Stanford, California, USA.
² Johns Hopkins University Department of Medicine, Division of Cardiology, Baltimore, Maryland, USA.
³ Sibley Heart Center Cardiology, Children's Healthcare of Atlanta, Atlanta, Georgia, USA. demoe@kidsheart.com.

No abstract available

Conflict of interest statement

The authors declare no conflict of interest.

1. US Food and Drug Administration. 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. March 6, 2018.needs an access date
1. Wang C, et al. Consumer use and response to online third-party raw DNA interpretation services. Mol Genet Genomic Med. 2018;6:35–43. doi: 10.1002/mgg3.340. - DOI - PMC - PubMed
1. Badalato L, Kalokairinou L, Borry P. Third party interpretation of raw genetic data: an ethical exploration. Eur J Hum Genet. 2017;25:1189–1194. doi: 10.1038/ejhg.2017.126. - DOI - PMC - PubMed
1. Tandy-Connor, S, Guiltinan, J, Krempely K et al. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med 2018;1–7. - PMC - PubMed
1. 23andMe Reports Included in Service Access Date: 4/12/2018. https://www.23andme.com/dna-reports-list/