DOI QR코드

DOI QR Code

Direct-to-consumer genetic testing

  • Kim, Jong-Won (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2019.09.09
  • Accepted : 2019.09.24
  • Published : 2019.09.30

Abstract

Direct-to-consumer (DTC) genetic testing is a controversial issue although Korean Government is considering to expand DTC genetic testing. Preventing the exaggeration and abusing of DTC genetic testing is an important task considering the early history of DTC genetic testing in Korea. And the DTC genetic testing performance or method has been rarely reported to the scientific and/or medical community and reliability of DTC genetic testing needs to be assessed. Law enforcement needs to improve these issues. Also principle of transparency needs to be applied.

References

  1. Norrgard K. DTC genetic testing for diabetes, breast cancer, heart disease and paternity. Nat Educ 2008;1:86.
  2. DTC genetic testing allowed for non-medical institutions. Seoul: Young Doctor Academy, 2016. Accessed 2019 Sep 9. Available from: http://www.docdocdoc.co.kr/news/articleView.html?idxno=209398.
  3. Release of regulatory sandbox activates DTC genetic testing research and business. Seoul: Electronic Times, 2019. Accessed 2019 Sep 9. Available from: http://www.etnews.com/20190606000042.
  4. Promotion of pilot project of DTC (direct to consumer) genetic testing service certification system. Sejong: Ministry of Health and Welfare, 2019. Accessed 2019 Sep 9. Available form: https://www.mohw.go.kr/react/al/sal0301vw.jsp?PAR_MENU_ID=04&MENU_ID=0403&page=1&CONT_SEQ=347772.
  5. Ebstein RP, Novick O, Umansky R, Priel B, Osher Y, Blaine D, et al. Dopamine D4 receptor (D4DR) exon III polymorphism associated with the human personality trait of Novelty Seeking. Nat Genet 1996;12:78-80. https://doi.org/10.1038/ng0196-78
  6. Vogel WH, Evans BD. Stress and alcohol. In: Alcohol and Hormones (Watson RR, ed.). Totowa: Springer Science, 1995. pp. 227-244.
  7. Genetic test of domestic bioventures: fact-finding data. Seoul: Citizen Science Center, 2001. Accessed 2019 Sep 9. Available from: http://www.peoplepower21.org/?module=file&act=procFileDownload&file_srl=824198&sid=45d4c2d8a7752b72c5362e5bca268ae5.
  8. Kluger AN, Siegfried Z, Ebstein RP. A meta-analysis of the association between DRD4 polymorphism and novelty seeking. Mol Psychiatry 2002;7:712-717. https://doi.org/10.1038/sj.mp.4001082
  9. European Society of Human Group. Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. Eur J Hum Genet 2010;18:1271-1273. https://doi.org/10.1038/ejhg.2010.129
  10. Ng PC, Murray SS, Levy S, Venter JC. An agenda for personalized medicine. Nature 2009;461:724-726. https://doi.org/10.1038/461724a
  11. United States Government Accountability Office. Direct-to-consumer genetic tests: misleading test results are further complicated by deceptive marketing and other questionable practices. Washington, DC: United States Government Accountability Office, 2010. Accessed 2019 Sep 9. Available from: https://www.gao.gov/new.items/d10847t.pdf.
  12. Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S, 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;20:1515-1521. https://doi.org/10.1038/gim.2018.38
  13. Kim S, Eom KW, Cho CR, Um TH. Comparison of commercial genetic-testing services in Korea with 23andMe service. Biomed Res Int 2014;2014:539151.
  14. Hodge SE, Greenberg DA. How can we explain very low odds ratios in GWAS? I. Polygenic models. Hum Hered 2016;81:173-180. https://doi.org/10.1159/000454804