Abstract
Over the last couple of years, many commercial companies, the majority of which are based in the USA, have been advertising and offering direct-to-consumer (DTC) genetic testing services outside of the established health care system, and often without any involvement from a health care professional. In the last year, however, a number of DTC genetic testing companies have changed their provision model such that consumers must now contact a health care professional before being able to order the genetic testing service. In discussing the advent of this new model of service provision, this article also reviews the ethical and social issues surrounding DTC genetic testing and addresses the potential motivations for change, some barriers to achieving truly appropriate medical supervision and the present reality of DTC genetic testing for some psychiatric and neurological disorders. Since the advent of these commercial activities, critics have pointed a finger at the lack of medical supervision surrounding these services. The discussion herein, however, reveals how difficult it may be, despite the addition of a physician, to actually achieve adequate medical supervision within the present context of DTC genetic testing.
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References
23 and Me (2011a) 23 and Me democratizes personal genetics. https://www.23andMe.com/about/press/20080909b/ Accessed 29 Apr 2011
23 and Me (2011b) Health reports: complete list. https://www.23andMe.com/health/all/ Accessed 22 Feb 2011
Allison M (2010) Genetic testing clamp down. Nat Biotechnol 28:633
American College of Obstetricians and Gynaecologists (2008) ACOG Committee Opinion No. 409: Direct-to-consumer marketing of genetic testing. Obstet Gynecol 111:1493–1494
American Medical Association (2008) Direct-to-consumer advertising and provision of genetic testing. www.ama-assn.org/ama1/pub/upload/mm/471/bot7.doc Accessed 23 Feb 2011
American Medical Association (2011) AMA letter to the FDA regarding molecular and clinical genetics panel of medical devices advisory committee. http://www.ama-assn.org/ama1/pub/upload/mm/399/consumer-genetic-testing-letter.pdf Accessed 27 Apr 2011
Anderson EE (2009) Direct-to-consumer personal genome services: need for more oversight. Virtual Mentor 11:701
Berg C, Fryer-Edwards K (2008) The ethical challenges of direct-to-consumer genetic testing. J Bus Ethics 77:17–31
Borry P (2008) Europe to ban direct-to-consumer genetic tests? Nat Biotechnol 26:736–737
Borry P, Howard HC, Senecal K, Avard D (2009) Direct-to-consumer genome scanning services. Also for children? Nat Rev Genet 10:8
Borry P, Cornel MC, Howard HC (2010a) Where are you going, where have you been. Direct-to-consumer genetic tests for health purposes. J Comm Genet 1:101–106
Borry P, Howard HC, Senecal K, Avard D (2010b) Health-related direct-to-consumer genetic testing: a review of companies’ policies with regard to genetic testing in minors. Fam Cancer 9:51–59
Burke W, Emery J (2002) Genetics education for primary-care providers. Nat Rev Genet 3:561–566
Council of Europe (2008a) Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes. http://conventions.coe.int/Treaty/EN/Treaties/Html/TestGen.htm Accessed 22 Feb 2011
Council of Europe (2008b) Explanatory report to the additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes. http://conventions.coe.int/Treaty/EN/Reports/Html/TestGen.htm Accessed 22 Feb 2011
Couzin J (2008) Gene tests for psychiatric risk polarize researcher. Science Magazine 319:274–278
Department of Health and Human Services (2011) Summary from the molecular & clinical genetics panel meeting–March 8 & 9, 2011. U.S. Food and Drug Administration, Silver Spring. http://www.fda.gov/downloads/AdvisoryCommittees/CommitteesMeetingMaterials/MedicalDevices/MedicalDevicesAdvisoryCommittee/MolecularandClinicalGeneticsPanel/UCM246907.pdf, Accessed 22 Aug 2011
DNA Direct (2011) New resources for genetic testing. http://www.dnadirect.com/web/consumers, Accessed 17 Feb 2011
Food and Drug Administration (2010a) FDA/CDRH Public meeting: oversight of laboratory developed tests (LDTs), Date July 19–20, 2010. www.fda.gov/MedicalDevices/NewsEvents/WorkshopsConferences/ucm212830.htm#webcast. Accessed 22 Feb 2011
Food and Drug Administration (2010b) Letters to manufacturers concerning genetic tests. www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/ucm219582.htm Accessed 22 Feb 2011
European Society of Human Genetics (2010) Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. Eur J Hum Genet 18:1271–1273
Field A, Krokosky A, Terry SF (2010) Direct-to-consumer marketing of genetic tests: access does not reflect clinical utility. GeneTest Mo Biom 14:731–732
Fischer MA, Keough ME, Baril JL, Saccoccio L, Mazor KM, Ladd E, Worley AV, Gurwitz JH (2009) Prescribers and pharmaceutical representatives: why are we still meeting? J Gen Intern Med 24:795–801
Foster MW, Sharp RR (2008) The contractual genome: how direct-to-consumer genomic services may help patients take ownership of their DNA. Persona Med 5:399–404
Foster MW, Mulvihill JJ, Sharp RR (2009) Evaluating the utility of personal genomic information. Genet Med 11:570–574
Genetics and Public Policy Center (2006) Direct-to-consumer genetic testing: empowering or endangering the public? http://www.dnapolicy.org/policy.issue.php?action=detail&issuebrief_id=32. Accessed 17 Feb 2011
Genetics and Public Policy Center (2011) http://www.dnapolicy.org/resources/AlphabetizedDTCGeneticTestingCompanies11.10.pdf. Accessed 17 Feb 2011
Gilbody S, Wilson P, Watt I (2005) Benefits and harms of direct to consumer advertising: a systematic review. Qual Saf Health Care 14:246
Green RC, Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Brown T, Eckert SLR, Butson M, Sadovnick AD, Quaid KA (2009) Disclosure of APOE genotype for risk of Alzheimer’s disease. New Engl J Med 361:245
Harris R, Challen K, Benjamin C, Harris H (2006) Genetic education for non-geneticist health professionals. Public Health Genomics 9:224–226
Hogarth S, Javitt G, Melzer D (2008) The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues. Annu Rev Genom Hum Genet 9:161–182
Howard HC, Borry P (2009) Personal genome testing: do you know what you are buying? Am J Bioeth 9:11–13
Howard HC, Knoppers BM, Borry P (2010) Blurring lines. The research activities of direct-to-consumer genetic testing companies raise questions about consumers as research subjects. EMBO Rep 11:579–582
Hudson K, Byers P, Burke W, Javitt G (2007) ASHG statement on direct-to-consumer genetic testing in the United States. Am J Hum Genet 81:635–637
Human Genetics Commission (2010) A common framework of principles for direct-to-consumer genetic testing services. http://www.hgc.gov.uk/Client/document.asp?DocId=280&CAtegoryId=10. Accessed 17 Feb 2011
Humphreys G (2009) Direct-to-consumer advertising under fire. Bull World Health Organ 87:576–577
Janssens AC, Gwinn M, Bradley LA, Oostra BA, van Duijn CM, Khoury MJ (2008) A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 82:593–599
Ledley F (2002) A consumer charter for genomic services. Nat Biotechnol 20:767
Lee SS, Crawley L (2009) Research 2.0: social networking and direct-to-consumer (DTC) genomics. Am J Bioeth 9:35–44
Lurie P (2009) DTC advertising harms patients and should be tightly regulated. J Law Med Ethics 37:444–450
MacDonald C, Walton N (2009) Personal genomics: democratization, or empowerment, or ‘something’. Am J Bioeth 9:46–48
McGuire A, Diaz CM, Wang T, Hilsenbeck S (2009) Social networkers’ attitudes toward direct-to-consumer personal genome testing. Am J Bioeth 9:3–10
Mihaescu R, Van HM, Sijbrands EJ, Uitterlinden AG, Witteman JC, Hofman A, van Duijn CM, Janssens AC (2009) Evaluation of risk prediction updates from commercial genome-wide scans. Genet Med 11:588–594
Mihaescu R, Detmar SB, Cornel MC, van der Flier WM, Heutink P, Hol EM, Rikkert MGMO, van Duijn CM, Janssens ACJW (2010) Translational research in genomics of Alzheimer’s disease: a review of current practice and future perspectives. Journal of Alzheimer’s Disease 20:967–980
Mintzes B (2002) For and against: direct to consumer advertising is medicalising normal human experience: for. Br Med J 324:908
Mitchell PB, Meiser B, Wilde A, Fullerton J, Donald J, Wilhelm K, Schofield PR (2010) Predictive and diagnostic genetic testing in psychiatry. Clin Lab Med 30:829–846
Navigenics (2011a) Find a physician. http://www.navigenics.com/visitor/about_us/find_a_physician/. Accessed 17 Feb 2011
Navigenics (2011b) How our services work. http://www.navigenics.com/visitor/what_we_offer/how_it_works/. Accessed 17 Feb 2011
Pathway Genomics (2011) Pathway’s genetic insights. https://www.pathway.com/dna-reports Accessed 17 Feb 2011
Psynomics (2011) Psynomics. http://www.psynomics.com/products.php. Accessed 22 Feb 2011
Rodwin MA (2010) Drug advertising, continuing medical education, and physician prescribing: a historical review and reform proposal. J Law Med Ethics 38:807–815
Salari K (2009) The dawning era of personalized medicine exposes a gap in medical education. PLoS Med 6:e1000138
Singh I, Rose N (2009) Biomarkers in psychiatry. Nature 460:202–207
SureGene (2010) SureGene, LLC. http://www.suregene.net/. Accessed 22 Feb 2011
Wade CH, Wilfond BS (2006) Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests. Am J Med Genet C Semin Med Genet 142:284–292
Wadman M (2008) Gene-testing firms face legal battle. Nature 453:1148–1149
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HCH is funded by the European Commission FP7 Marie Curie initiative, and PB is funded by the Research Fund Flanders (FWO).
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Special Issue: Genetics and Democracy
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Howard, H.C., Borry, P. Is there a doctor in the house?. J Community Genet 3, 105–112 (2012). https://doi.org/10.1007/s12687-011-0062-0
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DOI: https://doi.org/10.1007/s12687-011-0062-0