Direct-to-Consumer Genetic Testing in South Africa: Stumbling Over the First Legal Hurdle?
DOI:
https://doi.org/10.17159/1727-3781/2022/v25i0a11764Keywords:
Direct-to-consumer genetic testing, saliva sample, removal, tissue, biological material, National Health Act, autonomy, privacy, human dignity, bodily integrityAbstract
Despite the growing popularity of direct-to-consumer genetic testing, there is minimal South African literature on the topic. The limited available research suggests that direct-to-consumer genetic testing is unregulated. However, we suggest that direct-to-consumer genetic testing is indeed regulated, and unusually so. The first step in the process – the collection of a saliva sample by consumers themselves – is unlawful on a plain reading of the National Health Act 61 of 2003 and the Regulations Relating to the Use of Human Biological Material. This is because these statutes require that certain healthcare professionals must remove saliva for genetic testing. Yet, on closer analysis, such an apparent ban on the self-collection of saliva is neither aligned with a purposive interpretation of the relevant legislation, nor would it survive constitutional scrutiny – as it impedes an individual's autonomy. It is concluded that, contrary to a plain reading of the relevant statutes, individuals can lawfully collect their own saliva for direct-to-consumer genetic testing. To provide legal clarity we recommend that the relevant provisions of the National Health Act 61 of 2003 and the Regulations Relating to the Use of Human Biological Material be amended to allow individuals to collect their own saliva samples.
Downloads
References
BIBLIOGRAPHY
Literature
Academy of Science of South Africa Human Genetics and Genomics in South Africa: Ethical, Legal and Social Implications (2018)
Allyse MA "Direct-To-Consumer Testing 2.0: Emerging Models of Direct-To-Consumer Genetic Testing" 2018 Symposium on Precision Medicine 113-120 DOI: https://doi.org/10.1016/j.mayocp.2017.11.001
Apathy NC et al "Trends and Gaps in Awareness of Direct-To-Consumer Genetic Tests from 2007 to 2014" 2018 Am J Prev Med 806-813 DOI: https://doi.org/10.1016/j.amepre.2018.02.013
Bair S "Direct-To-Consumer Genetic Testing: Learning from the Past and Looking Toward the Future" 2012 Food & Drug LJ 413-433
Berg C and Fryer-Edwards K "The Ethical Challenges of Direct-To-Consumer Genetic Testing" 2008 J Bus Ethics 17-31 DOI: https://doi.org/10.1007/s10551-006-9298-8
Borry P, Cornel MC and Howard HC "Where Are You Going, Where Have You Been: A Recent History of the Direct-To-Consumer Genetic Testing Market" 2010 J Community Genet 101-106 DOI: https://doi.org/10.1007/s12687-010-0023-z
Bunnik EM et al "Informed Consent in Direct-To-Consumer Personal Genome Testing: The Outline of a Model Between Specific and Generic Consent" 2012 Bioethics 343-351 DOI: https://doi.org/10.1111/bioe.12004
Cacchio J "What You Don't Know Can Hurt You: The Legal Risk of Peering into the Gene Pool with Direct-To-Consumer Genetic Testing" 2018 UMKC L Rev 219-244
Chokoshvili D, Vears DF and Borry P "Growing Complexity of (Expanded) Carrier Screening: Direct-To-Consumer, Physician-Mediated, and Clinic-Based Offers" 2017 Best Prac Res Cl Ob 57-67 DOI: https://doi.org/10.1016/j.bpobgyn.2017.02.006
Chow-White PA et al "From the Bench to the Bedside in the Big Data Age: Ethics and Practices of Consent and Privacy for Clinical Genomics and Personalized Medicine" 2015 Ethics Inf Technol 189-200 DOI: https://doi.org/10.1007/s10676-015-9373-x
Curnutte M "Challenging the Boundaries of Medicine: Consumer Culture and Genetic Testing" 2012 Medic 138-144
Curnutte M and Testa G "Consuming Genomes: Scientific and Social Innovation in Direct-To-Consumer Genetic Testing" 2012 New Genet Soc 159-181 DOI: https://doi.org/10.1080/14636778.2012.662032
Currie I and De Waal J The Bill of Rights Handbook 6 ed (Juta Cape Town 2013)
Dandara C et al "Direct-To-Consumer Genetic Testing: To Test or Not to Test, That is the Question" 2013 S Afr Med J 510-512 DOI: https://doi.org/10.7196/SAMJ.7049
Field A, Krokosky A and Terry SF "Direct-To-Consumer Marketing of Genetic Tests: Access Does Not Reflect Clinical Utility" 2010 Genetic Alliance 731-732 DOI: https://doi.org/10.1089/gtmb.2010.1514
Helgason A and Stefánsson K "The Past, Present, and Future of Direct-To-Consumer Genetic Tests" 2010 Dialogues Clin Neurosci 61-68 DOI: https://doi.org/10.31887/DCNS.2010.12.1/ahelgason
Hogarth S, Javitt G and Melzer D "The Current Landscape for Direct-To-Consumer Genetic Testing: Legal, Ethical, and Policy Issues" 2008 Annu Rev Genom Hum Genet 161-182 DOI: https://doi.org/10.1146/annurev.genom.9.081307.164319
Hogarth S and Saukko P "A Market in the Making: The Past, Present and Future of Direct-To-Consumer Genomics" 2017 New Genet Soc 197-208 DOI: https://doi.org/10.1080/14636778.2017.1354692
Howard HC et al "The Convergence of Direct-To-Consumer Genetic Testing Companies and Biobanking Activities: The Example of 23andMe" in Wienroth M and Rodrigues E (eds) Knowing New Biotechnologies: Social Aspects of Technological Convergence (Routledge London 2015) 59-74
Jackson L, Goldsmith L and Skirton H "Guidance for Patients Considering Direct-To-Consumer Genetic Testing and Health Professionals Involved in Their Care: Development of a Practical Decision Tool" 2014 Family Pract 341-348 DOI: https://doi.org/10.1093/fampra/cmt087
Jeong G "Estimating the Effects of Consumer Characteristics on the Intention to Use Direct-To-Consumer Genetic Testing" 2018 Health Policy and Technology 233-238 DOI: https://doi.org/10.1016/j.hlpt.2018.06.004
Jordaan DW "Autonomy as an Element of Human Dignity in South African Case Law" 2009 Journal of Philosophy, Science & Law 1-15 DOI: https://doi.org/10.5840/jpsl2009933
Knoppers BM, Avard D and Howard HC "Direct-To-Consumer Genetic Testing: Driving Choice?" 2010 Expert Rev Mol Diagn 965-968 DOI: https://doi.org/10.1586/erm.10.84
Laestadius LI, Rich JR and Auer PL "All Your Data (Effectively) Belong to Us: Data Practices Among Direct-To-Consumer Genetic Testing Firms" 2017 Genet Med 513-520 DOI: https://doi.org/10.1038/gim.2016.136
Lombard Z et al "Implications of Direct-To-Consumer Whole-Exome Sequencing in South Africa" 2016 S Afr Med J 139-140 DOI: https://doi.org/10.7196/SAMJ.2016.v106i2.10534
Lynch J et al "Media Coverage of Direct-To-Consumer Genetic Testing" 2011 J Genet Counsel 486-494 DOI: https://doi.org/10.1007/s10897-011-9374-9
Mahmoud-Davis SA "Direct-To-Consumer Genetic Testing: Empowering EU Consumers and Giving Meaning to the Informed Consent Process Within the IVDR and GDPR Frameworks" 2020 Wash U Global Stud L Rev 1-52
Mainetti R et al "Usability Testing of Two Mini-Games and One Serious Game to Educate People About Genetics" in pHealth 16th International Conference on Wearable, Micro & Nano Technologies for Personalized Health (10-12 June 2019 Genoa, Italy) 82-87
Majumder MA, Guerrini CJ and McGuire AL "Direct-To-Consumer Genetic Testing: Value and Risk" 2021 Annu Rev Med 155-166 DOI: https://doi.org/10.1146/annurev-med-070119-114727
McCrudden C "Human Dignity and Judicial Interpretation of Human Rights" 2008 EJIL 655-724 DOI: https://doi.org/10.1093/ejil/chn043
Nienaber A and Bailey KN "The Right to Physical Integrity and Informed Refusal: Just How Far Does a Patient's Right to Refuse Medical Treatment Go?" 2016 SAJBL 73-77 DOI: https://doi.org/10.7196/SAJBL.2016.v9i2.472
Oh B "Direct-To-Consumer Genetic Testing: Advantages and Pitfalls" 2019 Genomics Inform 1-3 DOI: https://doi.org/10.5808/GI.2019.17.3.e33
Oliveri S and Pravettoni G "The Disclosure of Direct-To-Consumer Genetic Testing: Sounding Out the Psychological Perspective of Consumers" 2016 Biol Med 1-4 DOI: https://doi.org/10.4172/0974-8369.1000316
Pearson YE and Liu-Thompkins Y "Consuming Direct-To-Consumer Genetic Tests: The Role of Genetic Literacy and Knowledge Calibration" 2012 J Public Policy Mark 42-57 DOI: https://doi.org/10.1509/jppm.10.066
Popovsky M "Exaggerated Benefits and Underestimated Harms: The Direct-To-Market Consumer Genetic Test Market and How to Manage it Going Forward" 2010 Dartmouth LJ 65-87
Prainsack B "The Power of Prediction: How Personal Genomics Became a Policy Challenge" 2011 ÖZP 401-415
Robertson AS "Taking Responsibility: Regulations and Protections in Direct-To-Consumer Genetic Testing" 2009 Berkeley Tech LJ 213-243
Sarin R "Ethics and Clinical Utility of Direct-To-Consumer Genetic Tests" 2015 J Can Res Ther 1-2 DOI: https://doi.org/10.4103/0973-1482.155088
Saukko P "State of Play in Direct-To-Consumer Genetic Testing for Lifestyle-Related Diseases: Market, Marketing Content, User Experiences and Regulation" 2013 Proc Nutr Soc 53-60 DOI: https://doi.org/10.1017/S0029665112002960
Saunders R "Legal Implications of Direct-To-Consumer Genetic Testing for Common Diseases" 2010 1 QMLJ 71-79
Sweeny K and Legg AM "Predictors of Interest in Direct-To-Consumer Genetic Testing" 2011 Psychology and Health 1259-1272 DOI: https://doi.org/10.1080/08870446.2010.514607
Tamir S "Direct-To-Consumer Genetic Testing: Ethical-Legal Perspectives and Practical Considerations" 2010 Med Law Rev 213-238 DOI: https://doi.org/10.1093/medlaw/fwq011
Thaldar DW and Shozi B "The Legal Status of Human Biological Material Used for Research" Forthcoming in SALJ
Thaldar DW and Steytler MR "Time for Cinderella to Go to the Ball: Reflections on the Right to Freedom of Scientific Research" 2020 SALJ 260-288 DOI: https://doi.org/10.47348/SALJ/v138/i2a2
The Lancet "Direct-To-Consumer Genetic Testing" 2012 The Lancet 76 DOI: https://doi.org/10.1016/S0140-6736(12)61159-3
Thrush SA and McCaffrey R "Direct-To-Consumer Genetic Testing: What the Nurse Practitioner Should Know" 2010 J Nurse Pract 269-273 DOI: https://doi.org/10.1016/j.nurpra.2009.10.004
Tiller J and Lacaze P "Regulation of Internet-Based Genetic Testing: Challenges for Australia and Other jurisdictions" 2018 Front Public Health 1-6 DOI: https://doi.org/10.3389/fpubh.2018.00024
Varga EA "You Want to Do What? My Mother's Choice to have Direct-To-Consumer Genetic Testing" 2012 J Genet Counsel 382-385 DOI: https://doi.org/10.1007/s10897-012-9482-1
Wright CF, Hall A and Zimmern RL "Regulating Direct-To-Consumer Genetic Tests: What is All the Fuss About?" 2011 Genet Med 295-300 DOI: https://doi.org/10.1097/GIM.0b013e3181f69dd2
Case law
AB v Minister of Social Development 2016 (2) SA 27 (GP)
Barkhuizen v Napier 2007 (5) SA 323 (CC)
Bernstein v Bester 1996 (2) SA 751 (CC)
British American Tobacco South Africa (Pty) Ltd v Minister of Health [2012] 3 All SA 593 (SCA)
Khumalo v Holomisa 2002 (5) SA 401 (CC)
MEC for Education: Kwazulu-Natal v Pillay 2008 (1) SA 474 (CC)
Minister of Safety and Security v Xaba 2003 (2) SA 703 (D & CLD)
National Coalition for Gay and Lesbian Equality v Minister of Justice 1999 (1) SA 6 (CC)
NM v Smith 2007 (5) SA 250 (CC)
Teddy Bear Clinic for Abused Children v Minister of Justice and Constitutional Development 2014 (2) SA 168 (CC)
Legislation
Constitution of the Republic of South Africa, 1996
Consumer Protection Act 68 of 2008
Health Professions Act 56 of 1974
National Health Act 61 of 2003
Nursing Act 33 of 2005
Government publications
Draft Regulations Regarding the use of Human DNA, RNA Cultured Cells, Stem Cells, Blastomeres, Polar Bodies, Embryos, Embryonic Tissue and Small Tissue Biopsies for Diagnostic Testing, Health Research and Therapeutics GN R7 GG 29526 of 5 Jan 2007
Regulations Regarding the General Control of Human Bodies, Tissue, Blood, Blood Products and Gametes GN R180 GG 35099 of 2 Mar 2012
Regulations Relating to the Taking of Buccal Sample or Withdrawal of Blood from a Living Person for Testing (Amendment) GN R944 GG 34750 of 11 Nov 2011
Regulations Relating to the Use of Human Biological Material GN R177 GG 35099 of 2 Mar 2012
Internet sources
andMe date unknown Difference Between DNA Genotyping & Sequencing https://customercare.23andme.com/hc/en-us/articles/202904600-Difference-Between-DNA-Genotyping-Sequencing accessed 17 January 2021
andMe date unknown How it Works https://www.23andme.com/howitworks/ accessed 20 November 2020
andMe date unknown Providing Saliva Sample for DNA Test Kit https://customercare.23andme.com/hc/en-us/articles/202904530-Providing-Saliva-Sample-for-DNA-Test-Kit accessed 9 January 2021
Christman J 2020 Autonomy in Moral and Political Philosophy https://plato.stanford.edu/entries/autonomy-moral/ accessed 20 June 2021
CRIN 2018 Bodily Integrity https://archive.crin.org/en/home/what-we-do/policy/bodily-integrity.html accessed 14 April 2021
LexisNexis date unknown De Minimis Definition https://www.lexisnexis.co.uk/legal/glossary/de-minimis accessed 10 May 2021
Merriam-Webster Online Dictionary date unknown Body Fluid https://www.merriam-webster.com/medical/body%20fluid accessed 3 August 2020
Published
Issue
Section
License
Copyright (c) 2022 Amy Gooden, Donrich W Thaldar
This work is licensed under a Creative Commons Attribution 4.0 International License.
.png){kind=spacer}