Direct-to-consumer genetic testing: Ethical-legal perspectives and practical considerations

Medical Law Review

Volumn 18, Issue 2, 2010, Pages 213-238

  Tamir, Sivan ^a  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CONSUMER; ETHICS; GENETIC SCREENING; HEALTH CARE DELIVERY; HUMAN; LEGAL ASPECT;

ADOLESCENT; CHILD; CONSUMER PARTICIPATION; GENETIC TESTING; HEALTH SERVICES ACCESSIBILITY; HUMANS;

EID: 77956409938     PISSN: 09670742     EISSN: 14643790     Source Type: Journal    
DOI: 10.1093/medlaw/fwq011     Document Type: Article

References (109)

1. In addition to being a highly complex and lengthy process, the cost of individual whole-genome sequencing is also extremely high ($250,000-$350,000), though recent research indicates that such sequencing could be accomplished for less than $50,000. This has led to the auspicious prediction that within a few years, an individual's whole-genome could be sequenced for the mere cost of $1,000, thus advancing towards the era of personalised medicine.
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8. See the US Government Accountability Office (GAO) report on 'Nutrigenetic Testing - Tests Purchased from Four Web Sites Mislead Consumers', Testimony before the Special Committee on Aging, U.S. Senate (Washington, D.C., US GAO, July 2006) 2, 7, 13, 18, 22.
9. See American College of Medical Genetics (ACMG), 'ACMG Statement on Direct-to-consumer Genetic Testing' (2004) 6(1) Genetics in Medicine 60.
10. American Society of Human Genetics (ASHG), 'Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents' (1995) 57 American Journal of Human Genetics (AJHG) 1233-41 accessed May 14 2009.
11. EuroGentest, 'Recommendations for genetic counselling related to genetic testing', accessed May 14 2009.
12. A Salkin, 'When in Doubt, Spit It Out' The New York Times (New York September 14 2008).
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18. Parliamentary Office of Science & Technology, Postnote, 'NHS Genetic Testing', no. 227, July 2004 at 4 accessed May 14 2009.
19. Noteworthy is the pilot program launched by UK's National Health Service to increase physicians' genetic knowledge.
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22. (UK) Human Genetics Commission (HGC), More Genes Direct, December 2007, at 3.
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24. I use, for the purposes of this section, the term 'source' in order to avoid contended questions of ownership ('owner'), and as the term 'donor' does not seem appropriate in such involuntary context.
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26. World Medical Association (WMA) Declaration of Helsinki - Ethical Principles for Medical Research Involving Human Subjects (adopted by the 18th WMA General Assembly, Helsinki, Finland, June 1964) (as amended); The Belmont Report - Ethical Principles and Guidelines for the protection of human subjects of research, The National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research, April 18 1979. (in the USA); EC Treaty (Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights & Biomedicine, April 4 1997) (in EU countries); ICH Harmonised Tripartite Guideline for Good Clinical Practice E6(R1), (ICH-GCP Guidelines for Clinical Trials (1997) (new codification November 2005)); Code of Federal Regulations (CFR), Title 45, Part 46, Protection of Human Subjects, effective June 23 2005.
27. Testing minors for predictive late-onset disorders is discussed in the next part of this paper.
28. Australian Law Reform Commission (ALRC) and Australian Health Ethics Committee (AHEC), Essentially Yours: The Protection of Human Genetic Information in Australia, ALRC Report No 96, 2003 para 12.17 accessed May 11 2009.
29. Model Criminal Law Officers' Committee of the Standing Committee of Attorneys-General, Non-Consensual Genetic Testing Discussion Paper, November 2008 accessed May 11 2009.
30. It is reasonable to assume that for practical reasons some state authorities, such as the police, will be permitted to make use of non-consensual genetic testing. See e.g. Human Tissue Act 2004 s 39 (England and Wales).
31. For an insightful discussion of the various implications of a criminal offence of non-consensual genetic testing versus a similar civil action, see L Skene, 'Theft of DNA: Do We Need a New Criminal Offence?' in J Gunning and S Holm (eds), Ethics Law and Society, Vol. 1 (Ashgate Publishing Ltd, UK 2005) 95-94.
32. Editorial, 'Genetic Privacy and Piracy', 2009 11(5) Nature Cell Biology 509.
33. HGC, Inside Information (n 17 at 62, para 3.61).
34. Human Tissue Act 2004 s 45. And see the Human Tissue (Scotland) Act 2006. Of interest is the reference to this matter in the HGC recent consultation paper on DTC genetic testing services: 'Companies offering direct-to-consumer genetic tests should be aware of the laws that exist in some countries prohibiting DNA theft, which make it illegal to obtain or test DNA without the consent of the person from whom it originated. [...] Requests to recover DNA for genetic testing purposes from secondary objects or materials should raise suspicion and should be declined'.
35. HGC, A Common Framework of Principles for direct-to-consumer genetic testing services, September 8 2009, s 5.8, at 12. accessed September 14 2009.
36. A discussion paper on non-consensual genetic testing was released by the Standing Committee of Attorneys-General on November 2008, for public consultation (the closing date for consultation comments was January 31 2009) accessed May 12 2009.
37. PJ Malpas, 'Predictive Genetic Testing of Children for Adult-Onset Diseases and Psychological Harm' (2008) 34 Journal of Medical Ethics 275.
38. B Wilfond and L Friedman Ross, 'From Genetics to Genomics: Ethics, Policy and Parental Decision-making' (2009) 34(6) Journal of Pediatric Psychology 639-47.
39. Working Party of the Clinical Genetics Society (UK), 'The Genetic Testing of Children' (1994) 31 Journal of Medical Genetics 785-97.
40. ASHG, 'Points to consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents' (1995) 57 AJHG 1233-41 accessed May 14 2009.
41. Working Party of the Clinical Genetics Society (n 31 at 788-9).
42. Some DTC genetic testing companies require consumers to sign a disclaimer declaring they are over the age of 18 (which there is no way to confirm), while others ignore the issue altogether.
43. H Boonstra and E Nash, 'Minors and the Right to Consent to Health Care' (2000) 3(4) The Guttmacher Report on Public Policy accessed May 14 2009.
44. S Robertson and J Savulescu, 'Is There a Case in Favour of Predictive Genetic Testing In young Children?' (2001) 15(1) Bioethics 26, 42-3.
45. Wilfond (n 28, at 641).
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47. Genetic Information Nondiscrimination Act 2008, H.R.493, P.L. 110-233 (2008).
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49. A Harmon, 'Fear of Insurance Trouble Leads Many to Shun or Hide DNA Tests' The New York Times (New York February 24 2008).
50. This is a controversial ethical issue: on one end of the spectrum there is bioethicist Rosamond Rhodes, who holds that being an autonomous agent entails an obligation to pursue relevant, fairly attainable, decision-affecting genetic information. Rhodes argues for a moral duty towards our fellowman, deriving from blood ties and social bonds, to pursue such information. On the other end of the spectrum, there are those like Tuija Takala, who advocates the right to genetic ignorance, arguing that 'knowledge cannot be forced upon people'.
51. See R Rhodes, 'Genetic links, Family Ties, and Social Bonds; Rights and Responsibilities in the Face of Genetic Knowledge' (1998) 23(1) Journal of Medicine and Philosophy 10, 18, 20, 25.
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54. R Andorno, 'The right not to know: an autonomy based approach' (2004) 30 Journal of Medical Ethics 435, 437-9.
55. G Laurie, Genetic Privacy: A Challenge to Medico-Legal Norms (Cambridge University Press, Cambridge, UK, 2002), 211.
56. The issue of regulation, or rather the lack of it, will be discussed later on in this paper.
57. The Personal Genome Project-aimed at sharing identifiable personal DNA sequences, medical records, and other personal information with the research community and the general public.
58. See .
59. When the relative in question is a minor, the waiver of privacy ought to promote the well-being of the child or, at the very least, not to harm him or her. This provision would be rather difficult to ensure, as the genetic information of a parent is inevitably revealing of some aspects of the offspring's genetic makeup.
60. There is, upon GINA's (s 105) passage, an offense of wrongful disclosure of individually identifiable genetic information [under US Health Insurance Portability and Accountability Act (HIPAA) (s 1177)]. Such offense, could apply to DTC companies' engagement in scientific research collaborations, where personal information and data are transferred to third parties, for profit. However, HIPAA and relevant health privacy regulations may not apply to DTC companies since it is unclear whether they meet the criteria of 'covered entities' under HIPAA. Consequently, DTC consumers' genetic privacy might not benefit from the privacy protections awarded to patients' medical information obtained by covered entities.
61. See Health Insurance Portability and Accountability Act of 1996, P.L. 104-191, 110 Stat. 1936 (1996), s 1177; accessed May 21 2009.
62. K Hudson and others, with the ASHG Social Issues Committee, 'ASHG Statement on Direct-to-Consumer Genetic Testing in the United States' (2007) 81(3) AJHG 635-7.
63. JA Robertson, 'The $1000 Genome: Ethical and Legal Issues in Whole Genome Sequencing of Individuals' (2003) 3(3) American Journal of Bioethics W35, W39.
64. It appears, however, that many DTC genetic services providers shy away now from such confident statements and guarantees. Those have been replaced with vague, cautious warranties, and ample disclaimers aimed at protecting the companies from potential legal actions alleging misrepresentations. Interestingly, this has not improved-it might even have worsened-the consumer's position, causing confusion instead of assurance.
65. See accessed May 14 2009.
66. K Kaplan, 'Accuracy of gender test kits in question', Los Angeles Times (Los Angeles, February 24 2008); accessed May 14 2009.
67. The US Government Accountability Office, the audit, evaluation and investigative arm of the American Congress.
68. GAO, Nutrigenetic Testing-Tests Purchased from Four Web Sites Mislead Consumers, Testimony before the Special Committee on Aging, U.S. Senate (Washington, DC: US GAO, July 2006) 2, 7, 13, 18, 22.
69. DTCA is permitted in New Zealand as well.
70. A more detailed account of the regulation and control of DTC genetic tests is provided in the next section.
71. FTC, Facts for Consumers: At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription (FTC, Washington, DC, USA), July 2006.
72. The Children's Online Privacy Protection Act of 1998 (15 U.S.C. §§ 6501-6506); this act is related to the FTC's consumer protection mission; accessed May 29 2009.
73. Genetics and Public Policy Center, Survey of direct-to-consumer testing statutes and regulations, June 2007 accessed April 29 2008.
74. The Clinical Laboratory Improvement Amendments of 1988 (CLIA), P.L.100-578, 102 Stat. 2903 (1988).
75. accessed April 29 2008.
76. S Hogarth, G Javitt and D Melzer, 'The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues', 2008 (9) Annual Review of Genomics and Human Genetics, 161, 170. accessed May 14 2009.
77. This is state-dependent, however. In California, for example, genetic tests are considered clinical lab tests under state law, therefore, subject to laboratory licensure law and standards. accessed January 8 2009.
78. Hudson (n 48).
79. See ; accessed May 20 2009.
80. According to FTC's 'At-Home Genetic Tests' (July 2006), there is no such pre-market scrutiny of commercial test kits. However, according to the ASHG 2007 statement on DTC genetic testing-there is indeed such premarket review of commercial test kits by the FDA. See FTC (n 59); Hudson (n 48, at 636).
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84. Reading these statements, one should bear in mind that these professional groups represent genetic counsellors and geneticists, and while surely having the best interest of the public in mind, they are not interest-free in their opposing stance to the DTC genetic tests market.
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92. The Government response to the report, of December 2009, mostly referred to the HGC consultation paper discussed below.
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94. HGC, A Common Framework of Principles for direct-to-consumer genetic testing services, September 8 2009. ; accessed September 14 2009.
95. Gesetz über genetische Untersuchungen bei Menschen (Gendiagnostikgesetz - GenDG). Gendiagnostikgesetz vom 31. Juli 2009 (BGB1. I S. 2529, (3672)). .
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97. Violating this stipulation, whether negligently or with the intent to enrich oneself or harm others, constitutes an offence punishable by up to one-two years imprisonment, or corresponding fines (section 25(2)).
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109. LF Gillies, 'Addressing the "Cyberspace Fallacy": Targeting the Jurisdiction of an Electronic Consumer Contract' (2008) 16(3) International Journal of Law and Information Technology 242, 248.