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Direct to consumer genetic testing—law and policy concerns in Ireland

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Irish Journal of Medical Science (1971 -) Aims and scope Submit manuscript

Abstract

Background

With rapid scientific and technological advances, the past few years has witnessed the emergence of a new genetic era and a growing understanding of the genetic make-up of human beings. These advances have propelled the introduction of companies offering direct to consumer (DTC) genetic testing, which facilitates the direct provision of such tests to consumers, (for example, via the internet). Although DTC genetic testing offers benefits by enhancing consumer accessibility to such technology, promoting proactive healthcare and increasing genetic awareness, it presents a myriad of challenges, from an ethical, legal and regulatory perspective. As DTC genetic testing usually eliminates the need for a medical professional in accessing genetic tests, this lack of professional guidance and counselling may result in misinterpretation and confusion regarding results. In addition, an evident concern relates to the scientific validity and quality of these tests. A further problem arising is the lack or inadequacy of regulation in this field. Despite the increasing accessibility of DTC genetic testing, this legislative vacuum is apparent in Ireland, where there is no concrete legislation.

Aims and objectives

This article explores the main ethical, legal and regulatory issues arising with the advent of rapid advances in DTC genetic testing in Ireland. Further, with inevitable future advances in genetic science, as well as increasing internet accessibility, the challenges presented are likely to become more amplified.

Conclusions

In consideration of the ethical and legal challenges, this paper highlights the regulation of DTC genetic testing as a growing concern in Ireland, recognising its importance to both the scientific community as well as in respect of enhancing consumer confidence in such technologies.

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Notes

  1. Andelka M. Philips, Only a click away–DTC genetics for ancestry, health, love and more: a view of the business and regulatory landscape (2016) 8 Applied and Translational Genomics 16–22, 16

  2. Louiza Kalokairinou, Heidi C. Howard and Pascal Borry, Current developments in the regulation of direct-to-consumer genetic testing in Europe (2015) 15 Medical Law International 2-3 97-123

References

  1. de Paor A, Lowndes N (2014) Tracing the history, evolution and future orientation of genetic science and technology. In: Quinn G, de Paor A, Blanck P (eds) Genetic discrimination–transatlantic perspectives on the case for a european level legal response. Routledge, New York, p 29

  2. Collins FS, Morgan M, Patrinos A (2003) The human genome project: lessons from large scale biology. Science 300:286–290

  3. de Paor A, Blanck P (2016) Precision medicine and advancing genetic technologies–disability and human rights perspectives. Laws 5:36

  4. Collins FS, Mc Kusick VA (2001) Implications of the human genome project for medical science. J Am Med Assoc 285(5):540

  5. Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4:665

  6. Sapkota Y et al (2013) Germline DNA copy number aberrations identified as potential prognostic factors for breast cancer recurrence. PLoS One 8(1):e53850. https://doi.org/10.1371/journal.pone.0053850 http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0053850

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  7. Roscam Abbing H (2006) Pharmacogenetic data: mapping the subject’s rights. Good Clin Pract J 13:28

  8. Evans WE, Relling MV (2004) Moving towards individualized medicine with pharmacogenomics. Nature 429:464

  9. Hogarth S, Javitt G, Melzer D (2008) The current landscape for direct-to-consumer genetic testing: legal, ethical and policy issues. Annu Rev Genomics Hum Genet 9:161–182

  10. Patrinos G et al (2013) Genetic tests obtainable through pharmacies: the good, the bad, and the ugly. Hum Genomics 7:17

  11. Wallace H. (2015) GeneWatch UK PR: shoppers warned not to buy gene tests from Superdrug GeneWatch UK

  12. Howard HC, Borry P (2013) Survey of European clinical geneticists on awareness, experiences and attitudes towards direct-to-consumer genetic testing. Genome Med 5:45

  13. Borry P et al (2010) Legislation on direct-to-consumer genetic testing in seven European countries. Eur J Hum Genet 20(7):715

  14. Foster MW, Royal CDM, Sharp RR (2006) The routinisation genomics and genetics: implications for ethical practices. J Med Ethics 32:635–638

  15. Evans JP (2008) Recreational genomics; what’s in it for you? Genet Med 10(10):709–710

  16. https://www.23andme.com. Accessed 30 Jan 2017

  17. https://futuragenetics.com. Accessed 30 Jan 2017

  18. https://www.geneplanet.com. Accessed 30 Jan 2017

  19. Felzmann H (2015) Just a bit of fun’: how recreational is direct-to-consumer genetic testing? New Bioethics 21(1):20–32

  20. Saukko PM, Reed M, Britten N, Hogarth S (2010) Negotiating the boundary between medicine and consumer culture: online marketing of nutrigenetic tests. Soc Sci Med 70:744–753

  21. Grimaldi KA, Look MP, Scioli GA, Clavero JC, Marinos S, Tagaris T (2011) Personal genetics: regulatory framework in Europe from a service provider’s perspective. Eur J Hum Genet 19(4):382–388

  22. Prainsack B, Reardon J, Hindmarsh R, Gottweis H, Naue U, Lunshof JE (2008) Personal genomes: misdirected precaution. Nature 456(7218):34–35. https://doi.org/10.1038/456034a

    Article  PubMed  CAS  Google Scholar 

  23. Lucivero F, Prainsack B (2015) The lifestylisation of healthcare? Consumer genomics and mobile health as technologies for healthy lifestyle. Appl Transl Genomics 4:44–49

  24. Steele FR, Gold L (2014) DTC- and- me: patient, provider, proteins and regulators. J Pers Med 4:79–87

  25. www.easydna.ie. Accessed 30 May 2017

  26. www.homednadirect.ie. Accessed 30 May 2017

  27. www.geneticperformance.com. Accessed 30 May 2017

  28. de Paor A (2015) The Irish Legislative Response to Genetic Discrimination–an analysis of Part 4 of the Disability Act 2005: time for reform? Dublin Univ Law J 38(1):129–156

  29. Hawkins AK, Ho A (2012) Genetic counselling and the ethical issues around direct to consumer genetic testing. J Genet Couns 21:367–373

  30. Weaver M, Pollin TI (2012) Direct-to-consumer genetic testing: what are we talking about? J Genet Couns 21(3):361–366. https://doi.org/10.1007/s10897-012-9493-y

    Article  PubMed  Google Scholar 

  31. Sanderson S, Zimmern R, Kroese M, Higgins J, Patch C, Emery J (2005) How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom? Genet Med 7:495–500

  32. Haddow J, Palomaki G (2004) ACCE: a model process for evaluating data on emerging genetic tests. In: Khoury M et al (eds) Human genome epidemiology. Oxford University Press, New York, pp 217–233

  33. Berg C, Fryer -Edwards K (2008) The ethical challenges of direct-to-consumer genetic testing. J Bus Ethics 77(1):77–31

  34. Cussins J (2015) Direct to Consumer genetic tests should come with a health warning. Pharm J 294:7845

  35. Spencer DH et al (2011) Direct to consumer genetic testing: reliable or risky? Clin Chem 57(12):1641

  36. Warning letter from United States Food and Drug Administration to Ann Wojcicki, CEO of 23andMe, 22 November 2013. Available at: http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2013/ucm376296.htm. Accessed 9 May 2017

  37. Holpuch A (2013) FDA orders genetics company to cease marketing of screening service. The Guardian. Available at: http://www.theguardian.com/science/2013/nov/25/genetics-23andme-fda-marketing-pgs-screening. Accessed 9 May 2017

  38. Wagner JK (2010) Understanding FDA regulation of DTC genetic test within the context of administrative law. Am J Hum Genet 87(4):451–456

  39. Howard HC, Borry P (2012) Is there a doctor in the house? The presence of physicians in the direct to consumer genetic testing context. J Commun Genet 3:105

  40. Middleton A, Mendes A, Benjamin CM, Howard HC (2017) Direct to consumer genetic testing: where and how does genetic counseling fit? Pers Med 14(3):249–257

  41. Darst BF, Madlensky L, Schork NJ, Topol EJ, Bloss CS (2013) Perceptions of of genetic counseling services in direct- to- consumer personal genomic testing. Clin Genet 84:335–339

  42. Marks JH (2004) The importance of genetic counselling. Am J Hum Genet 74(3):395–396

  43. Lynch J et al (2011) Media coverage of direct-to-consumer genetic testing. J Genet Couns 20(5):486

  44. Andrews LB (1990) Legal aspects of genetic information. Yale J Biol Med 64:29–40

  45. Scott Roberts J, Ostergren J (2013) Direct-to-consumer genetic testing and personal genomics services: a review of recent empirical studies. Curr Genet Med Rep 1:2

  46. Bloss CS, Schork NJ, Topol EJ (2011) Effect of direct-to-consumer genomewide profiling to assess disease risk. N Engl J Med 364(6):524–534

  47. Dohany L, Gustafson S, Ducaine W, Zakalik D (2012) Psychological distress with direct-to-consumer genetic testing: a case report of an unexpected BRCA positive test result. J Genet Couns 21:399–401

  48. Harper PS (1997) What do we mean by genetic testing? J Med Genet 34:749–752

  49. Council of Europe (1997) Convention for the protection of human rights and the dignity of the human being with regard to the application of biology and medicine: convention on human rights and biomedicine, ETS. No. 164, Article 12

  50. Andorno R (2004) The right not to know: an autonomy based approach. J Med Ethics 30:435–439

  51. Madden D (2011) Medicine, ethics and the law, 2nd edn. Bloomsbury professional, Dublin

  52. Niemiec E, Howard HC (2016) Ethical issues in consumer genome sequencing: use of consumers’ samples and data. Appl Transl Genomics 8(26):23–30

  53. European Society of Human Genetics (2010) Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. Eur J Hum Genet 1–3

  54. http://www.dnaireland.ie. Accessed 30 May 2017

  55. Caulfield T (2009) Direct to consumer genetics and health policy: a worse-case scenario? Am J Bioeth 9(6 & 7):48–50

  56. Jordens C, Kerridge I, Samuel G (2009) Direct to consumer personal genome testing: the problem is not ignorance—it is market failure. Am J Bioeth 9(6):13–14

  57. de Paor A (2013) US and EU perspectives on genetic discrimination in employment and insurance: striking a balance in a battlefield of competing rights. In: Quinn G, Waddington L (eds) 4 European yearbook of disability law 99. Intersentia, Antwerp

  58. Huang H-Y, Bashir M (2015) Direct to consumer genetic testing: contextual privacy predicament. Comput Sci 52(1):1–10

  59. de Paor A (2014) Employment practices in a new genomic era: acknowledging competing rights and striking a balance. In: Quinn G, de Paor A, Blanck P (eds) Genetic discrimination—transatlantic perspectives on the case for a European level legal response. Routledge, New York, p 162

  60. de Paor A, O’Mahony C (2016) The need to protect employees with genetic predispostion to mental illness? The UN Convention on the Rights of Persons with Disabilities & the Case for Regulation. Ind Law J 45(4):525

  61. Novy MC (2010) Privacy at a price: direct-to-consumer genetic testing and the need for regulation. J Law Technol Policy 1:157

  62. Philips AM (2016) Only a click away—DTC genetics for ancestry, health, love… and more: a view of the business and regulatory landscape. Appl Transl Genomics 8(16):16–22

  63. Act No. 14 of 2005, Part 4

  64. de Paor A (2013) The regulation of genetic information in Ireland—does it strike an appropriate balance of rights. Medico- Legal J Ireland 19(2):97–101

  65. Act No. 14 of 2005, Part 4, section 42

  66. Act No. 16 of 1980

  67. See also Consumer Protection Act 2007 No. 19 of 2007

  68. Ellis H (2004) Modern Irish Commercial and Consumer Law. Jordans, Bristol

  69. (2009) Medical Council of Ireland’s guide to professional conduct and ethics for registered medical practitioners, 7th edn, p 40

  70. de Paor A, Ferri D (2015) Regulating genetic discrimination in the European Union: pushing the EU into unchartered territory or ushering in a new genomic era? Eur J Law Reform 17(1):14

  71. Borry P et al (2010) Legislation on direct-to-consumer genetic testing in seven European countries. 20:715

  72. Soina S (2012) Genetic testing legislation in Western Europe: a fluctuating regulatory target. J Commun Genet 3:143

  73. Human Genetic Examination Act (Genetic Diagnosis Act GenDG) 374/09, 2009

  74. Wright C (2009) Ban on direct-to-consumer in Germany. PHG Foundation. Retrieved 10 April 2016, http://www.phgfoundation.org/news/4562/

  75. (2008) Additional Protocol to the Convention on Human Rights and Biomedicine concerning genetic testing for health purposes. Rev Derecho Genoma Hum (28):219–42.

  76. Additional Protocol to the Convention on Human Rights and Biomedicine concerning genetic testing for health purposes (2008), Article 7

  77. Lwoff L (2009) Council of Europe adopts protocol on genetic testing for health purposes. Eur J Hum Genet 17:1374

  78. Regulation 5419/16 of the European Parliament and of the Council on the protection of individuals with regard to the processing of personal data and on the free movement of such data and repealing Directive 95/46/EC (General Data Protection Regulation)

  79. Kalokairinou L, Howard HC, Borry P (2015) Current developments in the regulation of direct-to-consumer genetic testing in Europe. Med Law Int 15(2–3):97–123

  80. 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 of 7 December 1998

  81. Dati F (2003) The new European directive on in vitro diagnostics. Clin Chem Lab Med 41(10):1289–1298

  82. Borry P (2008) Europe to ban direct-to-consumer genetic tests? Nat Biotechnol 26(7):736

  83. Hogarth S, Melzer D (2007) The IVD directive and genetic testing: problems and proposals. Available at: http://ec.europa.eu/health/medical-devices/files/recast_docs_2008/responses/132-r-2_en.pdf. Accessed 2 Apr 2017

  84. Romeo- Malanda S, Nicol D, Otlowski M (2011) Genetic testing and the protection of genetic privacy. In: Hongladarom Soraj (ed) Genomics and bioethics: interdisciplinary Perspectives, Technologies and Advancements’ (Medical Information Science Reference) p 249. https://doi.org/10.4018/978-1-61692-883-4.ch016

  85. (2013) Report on the proposal for a regulation of the European Parliament and of the Council on in vitro diagnostic medical devices (COM (2012)0541–C7–0317/2012–2012/0267(COD))

  86. (2013) Amendments adopted by the European Parliament on 22 October 2013 on the proposal for a regulation of the European Parliament and of the Council on in vitro diagnostic medical devices (COM (2012)0541–C7–0317/2012–2012/0267(COD))

  87. Eurogentest, New legal opinion finds EU does not have the power to enact radical genetic counselling laws. Available at: http://www.eurogentest.org/fileadmin/templates/eugt/pdf/IVDLegalNov2015.pdf. Accessed 2 April 2017

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  1. School of Law and Government, Dublin City University, Glasnevin, Dublin 9, Ireland

    Aisling de Paor

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de Paor, A. Direct to consumer genetic testing—law and policy concerns in Ireland. Ir J Med Sci 187, 575–584 (2018). https://doi.org/10.1007/s11845-017-1712-y

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