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NHMRC Draft Statement and Resource for Consumers: Direct-to-Consumer Genetic Testing submission

ID: 
8
Personal Details
First Name: 
Bruce
Last Name: 
Arnold
Questions
Q1. Is the draft Statement presented and written in a manner that is easy to understand?: 

The structure and expression in the draft Statement is consistent with recognised tests regarding readability and use of Plain English for a specialist and non-specialist audience.

Q2. Is the draft Statement comprehensive and does it cover all of the key issues?: 

The draft Statement as it stands is unexceptional. From a legal and bioethics perspective it is however important that the NHMRC adopt a more positive and forward-looking stance regarding privacy and regulation. 

In essence, the statement does cover the key issues but needs to cover them in more detail, with greater emphasis and with more context. 

Q3. Is there any further advice that should be included in the draft Statement on the accuracy of DTC genetic testing?: 

Yes. It is desirable that the NHMRC in the Statement and in associated material should more strongly highlight that although genetic testing is potentially useful there are substantive concerns regarding the predictive or other value of DTC. Those concerns reflect the interpretation of test results. Just as importantly, they also reflect indications about quality problems, for example consumers receiving significantly different results from competing DTC services.

In considering development of the Statement and the NHMRC stance regarding DTC is important and useful to note that health regulators in Australia and overseas do not appear to have engaged in close oversight of the quality of the testing. Perhaps this is in part due to jurisdictional boundaries and legislation that significantly limites the ability of Australian entities to offer DTC. Conventional consumer protection/trade practices watchdogs, such as the Australian Competition & Consumer Commission, have understandably relied on their health sector peers to address behaviour that in Australia would be in breach of the Australian Consumer Law. In practice that has resulted in a vacuum in regulation within Australia of DTC services based offshore.

Consumers are thus reliant on a hope that the operators of a particular DTC service – irrespective of whether it aims at an ‘entertainment’, ‘genealogical’ or predictive/therapeutic market – are competent in establishing and maintaining their operations. Some of the now-defunct DTC operators did not have that quality assurance. 

As academics with a law and molecular genetics background we warn that global DTC providers will emerge in Asia and other regions. It is important for the NHMRC to move beyond its apparent focus on the US market. There is no reason to believe that the systemic problems evident in generic pharmaceuticals manufacturing (eg recurrent governance, technical and other failures in facilities operated by [NHMRC has removed third party information] and peers in India, including significant contamination and fraud problems highlighted by the Food & Drug Administration (FDA)) will not arise among DTC start-ups in Asia. The past six months have seen renewed DTC activity in Europe.

By extension, there is scope for the NHMRC and bodies such as the Therapeutic Goods Administration to actively engage with peers such as the FDA to develop a global statement of best practice regarding DTC that can be reflected in national practice protocols and regulation. Development of such a statement and Australian protocols could be informed by the national Privacy Commissioner (see below). It is not appropriate for the NHMRC to adopt the stance that a bland warning is sufficient and trust than an overseas regulator such as the FDA will on behalf of Australia address problems with data quality, privacy and other matters.

Q4. Is more advice needed in the draft Statement on legal risks, risk rated insurance or privacy issues?: 

Yes. The draft Statement refers in passing to DTC data that may cover family members. There is now a very substantial body of peer-reviewed scholarly and official literature (including work by Bonython and Arnold in for example the Journal of Medical Ethics) highlighting concerns regarding engagement by an individual with DTC services in a way that precludes consent by family members in current and future generations. 

Those concerns are salient given the recent changes to the Australian privacy regime, with for example announcement by the national Government that the Office of the Australian Information Commissioner is to be abolished and its privacy functions spread across several bodies without additional resourcing. Publication has highlighted substantive concerns regarding the regulatory framework for genetic privacy. Those concerns remain. They are consistent with emerging international protocols (for example by the OECD working party on health information infrastructure and the formal ‘Consent’ Opinion by the Article 29 Working Party of the European Union).

We accordingly suggest that the NHMRC should strengthen the Statement and associated material. More importantly the NHMRC should regard the statement as a beginning rather than a destination. It should adopt a more engaged approach to questions about genetic privacy in relation to both disinterested research and commerce. It should also engage with questions about genetic discrimination (the ‘risk related insurance’ reference).

Q5. Is more advice needed in the draft Statement on the usefulness of DTC genetic testing?: 

This question appears to be predicated on an acceptance that a) DTC is ‘useful’ as a diagnostic/therapeutic mechanism but b) is not something that requires substantial attention by the NHMRC or other Australian government agencies as DTC is essentially an entertainment product for consumers who will either disregard the data or seek advice from a medical practitioner (albeit both the NHMRC and Australian Medical Association are concurrently noting concerns regarding time-poor GPs being pestered by the ‘worried well’).

We suggest that there is a greater need for more advice on usefulness in the ‘consumer’ resource. Medical practitioners can be assumed to have an informed understanding of the usefulness of DTC. That cannot be assumed for many consumers and it is clear from the published research that some consumers have grossly misinterpreted or inappropriately (and detrimentally) relied on DTC data. We note that consumers are likely to access information published by the NHMRC for medical practitioners and that accordingly the NHMRC should ensure that it is not seen to be tacitly endorsing DTC.

Q1. Is the draft Resource for Consumers presented and written in a manner that is easy to understand?: 

As per above.

Q2. Is the draft Resource for Consumers comprehensive and cover all of the key issues?: 

As per above.

It is particularly important to highlight privacy concerns and to note for example that proving genetic samples to an offshore DTC service potentially irrevocably gifts genetic information about the relatives of the individual. That gifting can affect current and future generations and is poorly restricted under current and future law. It is desirable that the NHMRC alert consumers (and policymakers, some of whom are not medical specialists) to potential consequences.

By extension, it is increasingly desirable that the NHMRC – whether independently or in partnership with bodies such as the TGA and Privacy Commissioner – actively foster greater community awareness and understanding of genetic testing (and in particular genetic privacy issues).

It is not appropriate to adopt the stance that DTC is merely ‘entertainment’ or is outside the charter of the NHMRC; the organisation should instead be looking forward.

Q3. Is there any further advice that should be included in the draft Resource for Consumers on the accuracy of DTC genetic testing?: 

As per above.

Q4. Is more advice needed in the draft Resource for Consumers on legal risks, risk rated insurance or privacy issues?: 

As per above.

Q5. Is more advice needed in the draft Resource for Consumers on the usefulness of DTC genetic testing?: 

As per above.

Page reviewed: 9 December, 2014