Direct-to-consumer genetic testing - a regulatory nightmare? Will the current framework protect consumers effectively?

The age of personalised medicine has seen the rapid emergence of a direct-to-consumer (DTC) genetic testing industry. While various forms of DTC testing have been available for many years, the emergence of DTC genetic testing is raising new concerns relating to the accuracy of predictions, and potential harms to consumers given there is typically no individualised genetic counselling. DTC testing also has the capacity to increase pressure on an already overstretched health care system if confused consumers seek assistance from health practitioners in interpreting test results.

In Australia, a number of companies advertise genetic testing directly to consumers. While some require that a health professional orders the tests and communicates results to the consumer, others offer unmediated services. Internationally, private companies are entering the DTC genetic testing market in increasing numbers. More likely than not, Australian consumers are responding to online advertising by these companies and sending their tissue samples for analysis overseas.

There is a growing body of academic commentary internationally calling for more stringent regulation of the industry. In many countries, genetic tests are already included within regimens regulating therapeutic goods, in the form of in-vitro diagnostic medical devices (IVDs). However, there is ongoing debate as to whether such regimens adequately regulate DTC testing, and a lack of consistency in regulatory approaches between countries, even within Europe. In 2003, the Australian Law Reform Commission and Australian Health Ethics Committee concluded in Essentially yours, the report of their inquiry into the protection of genetic information, that there are “strong arguments for regulating the supply, directly to the public, of products used in some forms of genetic testing”. Essentially yours also canvassed the difficulties associated with regulating foreign companies offering DTC genetic testing through the internet.

The Australian Therapeutic Goods Act 1989 (Cwlth) (the Act) applies to all therapeutic goods imported into, supplied in and exported from Australia. In 2002 a new regulatory framework was established for medical devices through the Therapeutic Goods (Medical Devices) Regulations 2002 (Cwlth) (the Regulations). Amendments to the Regulations in 2010 introduced an IVD regimen for genetic tests.

In this article we provide a brief overview of how this new regimen regulates IVDs, and some thoughts on its likely effect on DTC genetic testing. It is not our intention to add to the extensive debate surrounding the ethical and legal implications of DTC testing, or to take a position on the appropriate regulatory response.