Implications of direct-to-consumer whole-exome sequencing in South Africa

Lombard, Zané; Baine, Fiona; Krause, Amanda; Lochan, Anneline; Macaulay, Shelley; Spencer, Careni; Aldous, Colleen; Vries, Jantina de; Fieggen, Karen; Henderson, B; Hoal, Eileen G.; Kinnear, Craig; Kinsley, Noelene; September, Alison V.; Urban, Michael; Soodyall, Himla; Pepper, Michael Sean; Ramsay, Michèle

doi:10.7196/samj.2016.v106i2.10534

“…Two major problems relating to autonomy are immediately apparent here: the problem of scientific literacy [ 30 ] and the lack of training of physicians in genetics [ 31 , 32 ]. Indeed, it has been shown that more than half the individuals buying genetic tests online subsequently consult a physician to discuss the result [ 33 ].…”

Section: Discussionmentioning

confidence: 99%

23andMe: a new two-sided data-banking market model

Stoeklé

¹

,

Mamzer-Bruneel

²

,

Vogt

³

et al. 2016

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BackgroundSince 2006, the genetic testing company 23andMe has collected biological samples, self-reported information, and consent documents for biobanking and research from more than 1,000,000 individuals (90 % participating in research), through a direct-to-consumer (DTC) online genetic-testing service providing a genetic ancestry report and a genetic health report. However, on November 22, 2013, the Food and Drug Administration (FDA) halted the sale of genetic health testing, on the grounds that 23andMe was not acting in accordance with federal law, by selling tests of undemonstrated reliability as predictive tests for medical risk factors. Consumers could still obtain the genetic ancestry report, but they no longer had access to the genetic health report in the United States (US). However, this did not prevent the company from continuing its health research, with previously obtained and future samples, provided that consent had been obtained from the consumers concerned, or with health reports for individuals from other countries. Furthermore, 23andMe was granted FDA authorization on February 19, 2015, first to provide reports about Bloom syndrome carrier status, and, more recently, to provide consumers with “carrier status” information for 35 genes known (with high levels of confidence) to cause disease.DiscussionIn this Debate, we highlight the likelihood that the primary objective of the company was probably two-fold: promoting itself within the market for predictive testing for human genetic diseases and ancestry at a low cost to consumers, and establishing a high-value database/biobank for research (one of the largest biobanks of human deoxyribonucleic acid (DNA) and personal information).SummaryBy dint of this marketing approach, a two-sided market has been established between the consumer and the research laboratories, involving the establishment of a database/DNA biobank for scientific and financial gain. We describe here the profound ethical issues raised by this setup.

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“…Through the ASSAf Report’s recommendation that direct-to-consumer genetic testing be regulated, it is implied that it views the industry as currently unregulated. Dandara et al 2013 S Afr Med J 510, 512; Lombard et al 2016 S Afr Med J 139–140; 23andMe date unknown https://customercare.23andme.com/hc/enus/articles/202904600-Difference-Between-DNA-Genotyping-Sequencing ; ASSAf Human Genetics and Genomics in South Africa 34–35, 38.…”

mentioning

confidence: 99%

Direct-to-Consumer Genetic Testing in South Africa: Stumbling Over the First Legal Hurdle?

Gooden

¹

,

Thaldar

²

2022

PER.

0

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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.

show abstract

Direct-to-Consumer Genetic Testing in South Africa: Stumbling Over the First Legal Hurdle?

Gooden

¹

,

Thaldar

²

2022

PER.

View full text Add to dashboard Cite

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.

show abstract

Implications of direct-to-consumer whole-exome sequencing in South Africa

Cited by 3 publications

References 11 publications

23andMe: a new two-sided data-banking market model

23andMe: a new two-sided data-banking market model

Direct-to-Consumer Genetic Testing in South Africa: Stumbling Over the First Legal Hurdle?

Direct-to-Consumer Genetic Testing in South Africa: Stumbling Over the First Legal Hurdle?

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