Abstract
The increase in companies offering direct-to-consumer genetic testing (DCGT) has sparked much regulatory and ethical debate. Never before have we had a situation where new biological markers move from discovery to direct-to-consumer (DTC) provision with no intervening period of continuing adoption by the medical profession. This is a novel situation and it may require an exceptional policy response to the questions raised. The lack of both genetic counselling and health professional involvement, vulnerability of the public to misleading claims, appropriateness of marketing tests DTC, quality assurance of laboratories and testing services, protection for the consumer, validation and interpretation of genetic tests, ownership and control of data and technology, confidentiality of health information, the appropriate regulatory response, are some of the main concerns raised about DCGT.
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Notes
- 1.
S. Hogarth, G. Javitt, D. Melzer, The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues, Annual Review of Genomics and Human Genetics (2008), 9, at 162.
- 2.
M. W. Foster, J.J. Mulvihill, R.R. Sharp, “Evaluating the utility of personal genomic information”, Genetics in Medicine (2008), 9 (6), p. 419.
- 3.
There are some companies that play on consumers’ fear that if testing is conducted within the traditional health care system, might lead to discrimination. See, for example, http://www.counsyl.com/about/privacy/ (Accessed 1 April 2011).
- 4.
G. H. Javitt, “Policy implications of genetic testing: not just for geneticists anymore”, Advances in Chronic Kidney Disease (2006), 13 (2), at 178–182.
- 5.
S. Hogarth, G. Javitt, D. Melzer, The Current Landscape for…, cit., (2008), at 163–164.
- 6.
Other publications have tackled the issue of advertising. See, for example, the following ones: B. Williams-Jones, “Be ready against cancer, now: direct-to-consumer advertising for clinical genetic testing”, New Genetics and Society (2006), 25 (1), p. 89; European Technology Assessment Group (hereinafter ETAG), “Direct to Consumer Genetic Testing”. Final Report. (IP/A/STOA/FWC/2005-28/SC39) (2008), at 21-22. Available at: http://www.samenlevingentechnologie.be/ists/nl/pdf/rapporten/finaldcgtreportgenetictesting.pdf (Accessed 1 April 2011).
- 7.
A table in which direct-to-consumer testing companies are listed, the type of the tests offered by each one, as well as the model of delivering them, is described in: S. Hogarth, G. Javitt, D. Melzer, The Current Landscape for… cit., (2008), at 166–167. See the study carried out by the ETAG, in which is described the market for DCGT—Supply-DCGT Offers via the Internet and the demand — Public Attitude towards DCGT —, as well as the assessment of websites of companies offering DCGT. See ETAG, Direct to…, cit., (2008), at 34–52.
- 8.
C. Patch, J. Sequeiros, M. C. Cornel, “Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing”, European Journal of Human Genetics (2009), 17 (7), pp. 857–859; J. Kaye, The regulation of direct-to-consumer genetic tests, Human Molecular Genetics (2008), 17 (R2), R180-R183.
- 9.
In general terms, analytical validity refers to the accuracy with which a particular genetic characteristic (e g., DNA sequence variant) can be identified in a given laboratory tests. Clinical validity refers to the strength of the association between the genotype and disease. Clinical utility makes reference to the likelihood of improved outcome from use of the test. D. J. Hunter, M. J. Khoury, J. M. Drazen, “Letting the genome out of the bottle—will we get our wish?”, The New England Journal of Medicine (2008), 358 (2), pp. 105–107; C. H.Wade and B. S.Wilfond, “Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests”, American Journal of medical genetics. Part C, Seminars in medical genetics (2006), 142 (4), at 284–292.
- 10.
D. J. Hunter, M. J. Khoury, J. M. Drazen, Letting the genome… cit., (2008), at 105–107.
- 11.
M. K. Cho, “Translating Genomics into the clinic: moving to the post-Mendelian world”, Genome Medicine (2009), 1 (1), at 7.
- 12.
Several companies offer testing that uses microarray technology to screen for hundreds to a million SNPs. These tests do not identify genetic variants that are diagnostic; SNPs are surrogate genetic markers that have been associated with an increased risk of developing a disease. B. M. Kuehn, “Risks and benefits of direct-to-consumer genetic testing remain unclear”, Journal of the American Medical Association (2008), 300 (13), at 1503–1505.? This is plausible from an economic perspective, since the market potential for common diseases and lifestyle testing massively exceeds that for rare hereditary diseases and carrier testing”. See ETAG, Direct to… cit., (2008), at 42.
- 13.
D. Melzer et. al., “Genetic tests for common diseases: new insights, old concerns”, British Medical Journal, (2008), 336, at 590–593; T. Manolio, State of the science of genomic associations: current and future directions. Secretary’s Advisory Committee on Genetics, Health, and Society (2008). See http://oba.od.nih.gov/oba/sacghs/meetings/july2008/manolio.pdf (Accessed 1 April 2011).
- 14.
As has been stated by Janssens et al., “there is insufficient evidence to conclude that genomic profiles are useful in measuring genetic risk for common diseases or in developing personalized diet and lifestyle recommendations for disease prevention”: A. C. Janssens et. al., “A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions”, The American Journal of Human Genetics (2008), 82 (3), at 593–599.
- 15.
For example, physicians usually recommend one or more of the following preventive measures for diabetes, obesity and heart disease: do not smoke, use alcohol in moderation, exercise regularly, reduce stress and control blood pressure, and eat a balanced diet. Genetic information is not likely to change these recommendations. On the other hand, one should also question the clinical utility of testing for conditions that have no known treatment. See W. Hall and C. Gartner, “Direct-to-consumer genomewide scans: astrologicogenomics or simple scans?”, The American Journal of Bioethics (2009), 9 (6–7), at 54–55.
- 16.
However, as has been outlined, such a consideration or determination “may be flawed if the information given by the DTC company is false or misleading or is not explained adequately to the consumer”, S. Hogarth, G. Javitt, D. Melzer, “The Current Landscape”…, cit., (2008), at 169.
- 17.
D. Melzer et al., “Genetic tests for common”, cit., (2008), at 590–593; A. C. Jansens and C. M. Van Duijn, “Genome-based prediction of common disease: advances and prospects”, Human Molecular Genetics (2008), 17, R166-R173.
- 18.
D. J. Hunter, M. J. Khoury, J. M. Drazen, “Letting the genome out of…”, cit. (2008), at 105–107.
- 19.
In a study of 24 commercial websites that offer DTC advertising, Geransar and Einsiedel found that the information offered was not always complete, pertinent or accurate: R. Geransar and E. Einsiedel, “Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyer beware?” Genetic Testing (2008), 12 (1), at 13–24.
- 20.
Although some companies (e g., DNAdirect) require pre-test counseling for conditions such as breast cancer and provide some form of post-test counseling automatically with the test results. See www.dnadirect.com.
- 21.
B. N. Peshkin et. al., “Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial”, Genetic Test ing (2008), 12 (1), at 37–52.
- 22.
An investigation showed how surreptitious genomic testing could be carried out: P. Aldhous and M. Reilly, “Special investigation: how my genome was hacked”, New Scientist Issue 2701. See http://www.newscientist.com/article/mg20127013.800-special-investigation-how-my-genome-washacked (Accessed 2 April 2011).
- 23.
S. Tamir, “Direct-to-consumer genetic testing: Ethical-legal perspectives and practical considerations”, Medical Law Review (2010), 18 (2), at 213–238.
- 24.
K. Kolor et. al., “Health care provider and consumer awareness, perceptions, and use of direct-toconsumer personal genomic tests”, United States, 2008, Genetics in Medicine (2009), 11 (8), at 595.
- 25.
A. L. McGuire and W. Burke, “An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons”, Journal of the American Medical Association (2008), 300 (22), at 2669–2671.
- 26.
T. Caufield, “Direct-to-consumer genetics and health policy: a worst-case scenario?”, The American Journal of bioethics (2009), 9 (6–7), at 48–49.
- 27.
S. Hogarth, G. Javitt, D. Melzer,“The Current Landscape for…”, cit., (2008), at 177.
- 28.
OECD: Guidelines for Quality Assurance in Molecular Genetic Testing (2007). Available at http://www.oecd.org/dataoecd/43/6/38839788.pdf (Accessed 19 April 2011).
- 29.
However, as has been outlined by the OECD, considerable differences exist in the use of licensing, certification, and accreditation procedures across OECD Member countries. This, in turn, poses a number of challenges for molecular genetic testing, particularly with respect to the standards under which tests are performed and results are reported for clinical application, and the training and qualifications required by laboratory personnel. OECD: Guidelines for Quality Assurance in Molecular Genetic Testing (2007), at 6.
- 30.
Human Genetics Commission (hereinafter HGC): A common framework of principles for directto- consumer genetic testing services (2010), where is outlined that tests should be carried out by accredited laboratories that have appropriate quality assurance procedures in place. Available at http://www.hgc.gov.uk/UploadDocs/DocPub/Document/HGC%20Principles%20for%20DTC%20genetic%20tests%20-%20final.pdf (Accessed 14 April 2010). The intention is that the principles will apply across all jurisdictions and build on existing international guidelines and protocols.
- 31.
One of the problems in this respect is that genetic tests within the European Union are not subject to independent pre-market review, as they are considered “low risk” under the In Vitro Medical Devices Directive; that is, Directive 98/79/EC of the European Parliament and of the Council of 27 October 1998 on in vitro diagnostic medical devices OJ L 331, 7.12.1998.
- 32.
As the Human Genetics Commission has outlined, the risk classification of the IVD Directive should be reviewed in order to provide for coverage of genetic testing. HGC, More Genes Direct. A report on developments in the availability, marketing and regulation of genetic tests supplied directly to the public” (2007, at 24) available at: http://www.hgc.gov.uk/UploadDocs/DocPub/Document/More%20Genes%20Direct%20-%20final.pdf (Accessed 21 April 2011). A new model of risk assessment for in-vitro diagnostics has been drafted by the Global Harmonization Task Force (GHTF). GHTF: “Principles of In Vitro Diagnostic Medical Devices Classification: http://www.ghtf.org/sg1/sg1-proposed.html (Accessed 21 April 2011). If the recommended system were adopted by European regulatory bodies, it would probably imply that pre-market review would become compulsory for many genetic tests. See, in this respect, the arguments set out by S. Hogarth and D. Melzer, “The IVD Directive and Genetic Testing — Problems and Proposals. A briefing presented to the 20th meeting of Competent Authorities”, Lisbon, 2007, at 4 available at http://ec.europa.eu/enterprise/newsroom/cf/getdocument.fm?docid=4878 (Accessed 21 April 2011).
- 33.
See ETAG, Direct to…, cit., (2008), at 58.
- 34.
See ETAG, Direct to…, cit., (2008), at 57.
- 35.
European Society of Human Genetics (ESHG), Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes, European Journal of Human Genetics (2010), 1–3; Human Genetics Commission (hereinafter HGC), A common framework of… cit., 2010, at 9.
- 36.
Even for signatories of the Convention on Human Rights and Biomedicine 1997 ETS No. 164, it is still an optional protocol and will have to be implemented into national law to have full effects.
- 37.
See articles 8 and 11 of this Additional Protocol.
- 38.
See article 6 of this Additional Protocol.
- 39.
P. Borry, “Europe to ban direct-to-consumer genetic tests?”, Nature Biotechnology (2008), 26, at 736.
- 40.
“In line with these laws, a test provider should make consumers aware of the law and should not perform a test if they have reason to believe that a biological sample they have been provided with for genetic testing purposes has been taken from a third party who has not given their consent for the tests to be performed”: HGC, “A common framework…”, cit., 2010, at 10.
- 41.
According also to HGC “Except in exceptional circumstances provided for by law and appropriate guidance, companies offering direct-to-consumer genetic tests should not provide tests to adults unable to provide informed consent?. See HGC, “A common framework…”, cit., 2010, at 10. See also Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics, European Journal of Human Genetics (2009) 17, at 720–72. Available at: http://www.nature.com/ejhg/journal/v17/n6/full/ejhg200926a.html (Accessed 1 April 2011).
- 42.
HGC, “A common framework…”, cit., 2010, at 10.
- 43.
See ETAG, Direct to…, cit., (2008), at 57.
- 44.
C. Patch, J. Sequeiros, M. C. Cornel, “Genetic horoscopes: is it all in…”, cit., at 857.
References
S. Hogarth, G. Javitt, D. Melzer, The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues, Annual Review of Genomics and Human Genetics (2008), 9, at 162.
M.W. Foster, J.J. Mulvihill, R.R. Sharp, “Evaluating the utility of personal genomic information”, Genetics in Medicine (2008), 9 (6), p. 419.
G.H. Javitt, “Policy implications of genetic testing: not just for geneticists anymore”, Advances in Chronic Kidney Disease (2006), 13 (2), at 178–182.
S. Hogarth, G. Javitt, D. Melzer, The Current Landscape for…, cit., (2008), at 163–164.
C. Patch, J. Sequeiros, M.C. Cornel, “Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing”, European Journal of Human Genetics (2009), 17 (7), pp. 857–859; J. Kaye, The regulation of direct-to-consumer genetic tests, Human Molecular Genetics (2008), 17 (R2), R180–R183.
D.J. Hunter, M.J. Khoury, J.M. Drazen, Letting the genome… cit., (2008), at 105–107.
M.K. Cho, “Translating Genomics into the clinic: moving to the post-Mendelian world”, Genome Medicine (2009), 1 (1), at 7.
D. Melzer et. al., “Genetic tests for common diseases: new insights, old concerns”, British Medical Journal, (2008), 336, at 590–593; T. Manolio, State of the science of genomic associations: current and future directions. Secretary’s Advisory Committee on Genetics, Health, and Society (2008). See http://oba.od.nih.gov/oba/sacghs/meetings/july2008/manolio.pdf (Accessed 1 April 2011).
D. Melzer et al., “Genetic tests for common”, cit., (2008), at 590–593; A.C. Jansens and C.M. Van Duijn, “Genome-based prediction of common disease: advances and prospects”, Human Molecular Genetics (2008), 17, R166–R173.
D.J. Hunter, M.J. Khoury, J.M. Drazen, “Letting the genome out of…”, cit. (2008), at 105–107.
B.N. Peshkin et. al., “Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial”, Genetic Test ing (2008), 12 (1), at 37–52.
S. Tamir, “Direct-to-consumer genetic testing: Ethical-legal perspectives and practical considerations”, Medical Law Review (2010), 18 (2), at 213–238.
K. Kolor et. al., “Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests”, United States, 2008, Genetics in Medicine (2009), 11 (8), at 595.
A.L. McGuire and W. Burke, “An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons”, Journal of the American Medical Association (2008), 300 (22), at 2669–2671.
T. Caufield, “Direct-to-consumer genetics and health policy: a worst-case scenario?”, The American Journal of bioethics (2009), 9 (6–7), at 48–49.
S. Hogarth, G. Javitt, D. Melzer,“The Current Landscape for…”, cit., (2008), at 177.
P. Borry, “Europe to ban direct-to-consumer genetic tests?”, Nature Biotechnology (2008), 26, at 736.
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Azofra, M.J. (2012). Some Ethical and Regulatory Aspects Involved in Direct-to-Consumer Genetic Testing (DCGT). In: Bin, R., Lorenzon, S., Lucchi, N. (eds) Biotech Innovations and Fundamental Rights. Springer, Milano. https://doi.org/10.1007/978-88-470-2032-0_14
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