Gene testing framework ignores privacy and security concerns

Newborn babies may soon be given genome-wide tests and the data placed on their e-health record. sean dreilinger

By making it possible to screen for gene variants linked to a higher risk of disease, gene testing has the potential to transform the way we manage health. It opens up the possibility of routine screening of newborns, either to plan early intervention for individuals or aid resource allocation and planning across the community. The Department of Health and Ageing’s soon-to-be-released framework for genomic testing shows the Commonwealth is thinking seriously about this potential.

Unfortunately, there’s also a down side to this type of genetic testing that doesn’t get much attention. Many genetic associations in genomic testing are weak, making them indicative rather than conclusive. Meaningful interpretation of the results requires specialised skill sets, beyond those held by most health practitioners. Given misunderstandings of risk and causation in the private and public sectors, there’s a real danger that information based on these genetic tests may be either misinterpreted or misused to discriminate against people.

A significant proportion of people at risk of developing disease later in life choose to exercise their right not to know about it. Genetic testing of newborns violates this right.

The suggestion that the results of tests performed against newborns should be attached to national e-health records is also troubling. Substantial questions about the effectiveness of privacy protection regarding the e-health record remain. Adding yet more sensitive information to the record, against the backdrop of an already-fragile genetic privacy regime, is asking for trouble.

It’s a worrying example of project creep in a big-ticket initiative that, like its ailing counterparts overseas, has not attracted meaningful support from medical practitioners (under 1% of practitioners?) and is in search of legitimacy amid criticisms from doctors, lawyers and consumers.

In establishing the framework for genomic testing, the Australian government is somewhat late in joining the party - the European Union and the United States have been grappling with the challenges presented by this type of technology for several years. Some of the problems have been highlighted by the US Food and Drug Administration’s intervention in the direct-to-consumer genetic testing market through a congressional inquiry in mid-2010.

Given recognition of potential abuses, the US has engaged with the issue of genetic discrimination by passing Genetic Information Non-Discrimination Act, which prohibits discrimination against a person on the basis of their genetics in health insurance and employment. The Act recognises that comprehensive genetic profiling is qualitatively different to traditional testing of babies such as the Guthrie test.

What about claims that respect for individual dignity is an unaffordable luxury and that the advancement of knowledge supersedes rights? Iceland has a cautionary tale to tell of this type of widespread population testing.

A database combining genetic and health records Icelanders has, until recently, been under the control of controversial commercial company, deCode. This company’s financial difficulties as a marketer of direct-to-consumer genetic testing have led to its sale to an international company based in the United States.

This collection is of enormous value as a research tool. It’s also a commercial commodity that’s now open to exploitation by entrepreneurs who are outside Icelandic law and beholden only to private equity.

What’s fascinating about the health and ageing department’s framework is that development hasn’t involved substantive community consultation. We need that consultation in order to get good policy, particularly policy that’s strongly informed by legal concerns and by the sorts of criticisms expressed by regulators in Europe. We also need it as the basis of greater community understanding of issues regarding genomics.

Policy development cannot be left to medical researchers and health officials. Not even the national privacy commissioner appears to have been a member of the Genetics Working Party, which is presumably developing the framework.

The time is ripe for the department to properly brief all Australians on a matter of national interest, and to take on board concerns regarding law, data security and other matters. Failure to do so will raise questions about its credibility and about Australia’s governance of genetic information.

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