News

The August 2009 issue of Genetics in Medicine has a special focus on personalised medicine, and includes research papers examining the effect of risk updates on commercial services (see previous news), as well as investigating the awareness, characteristics and perceptions of users of direct-to-consumer (DTC) genetic risk profiling.

 

It also contains the latest addition to a growing body of literature offering expert recommendations for the evaluation and regulation of personal genomics services, from an expert multidisciplinary workshop co-hosted by the National Institutes of Health and the Centers for Disease Control and Prevention in the US [Khoury M et al. (2009) Genet Med 11(8):559-67]. The workshop was convened in late 2008 to discuss the scientific foundation for personal genomics in risk prediction and disease prevention, and highlighted the need for:

This review is published back-to-back with four commentaries, further adding to the ongoing debate over DTC genetic test services. The first discusses the current tension between “paternalism on the one hand and recklessness on the other” [Evans JP & Green RC (2009) Genet Med 11(8):568-9]. The authors attempt to find a middle ground between these two extremes by making three practical suggestions relating to the regulation of DTC genetic testing services: first, the need for transparency in the provision of accurate and transparent information to consumers; second, the requirement for formal laboratory certification to ensure that the assay result is accurate; and third, the importance of ensuring that tests are honestly labelled and explicitly state evidence (or lack of) for demonstrated utility.

 

The second commentary argues that variation between individuals (in terms of personal autonomy, family dynamics and awareness of disease risk) means that a more expansive view of utility than is usually employed in medicine is appropriate for evaluating personal genomic information [Foster MW et al (2009) Genet Med 11(8):570-4]. The authors suggest that the concept could be reframed to include not only ‘clinical utility’ relating to direct medical actions, but also ‘personal utility’ such as “indirect health-related and other nonmedical benefits”. This model argues for greater access to personal genomic data for those in whom there would be positive overall utility, and for developing strategies (such as transparency) for minimising the risk of negative consequences from testing (such as misinterpretation). This proposal fits with a liberal future in which patients are envisioned as “copractitioners in their own health promotion and care” and the state plays a somewhat reduced role.

 

The third commentary questions this approach, and emphasises the difficulty of adequately defining and measuring overall utility [Grosse SD et al (2009) Genet Med 11(8):575-6]. The authors helpfully define three discrete viewpoints, which may help to explain the different perspectives that underlie various alternative opinions relating to DTC genetic testing: “the public health approach, which emphasises improvements on a population level; the clinical perspective, which emphasises … diagnostic thinking and therapeutic choice; and the personal perspective, which may consider genomic information as having potential value per se regardless of its clinical use or health outcomes.” It is currently unclear which one of these philosophies will ultimately prevail with respect to regulation.

 

The fourth and final commentary focuses on the implications for technology assessment of new ‘disruptive’ technologies in healthcare, such as personalised medicine, and asks the question “what can policy makers do to promote innovation and allow new technologies to enter this regulated marketplace?” [Schulman KA et al (2009) Genet Med 11(8):577-81]. In short, how do we responsibly regulate the marketplace, and protect the unwary consumer from quackery and fraudulence, whilst encouraging and nurturing innovation? The authors suggest that one solution might be to open an Office of Personalised Medicine, charged with identifying and reviewing new technological applications in this area and expediting their regulatory approval. This approach is intended to offer a competitive advantage to those technologies that may truly be disruptive, such as genomic risk profiling, whilst maintaining a robust assessment process and stringent regulatory environment.

 

Comment: These articles highlight the breadth and depth of the current debate surrounding DTC genetic testing services, and explore the different ideologies and underlying motivations of the various stakeholders. The issues go to the very heart of a much wider debate on the future of public health in the coming decades, and the role of the state in the face of personalised medicine, consumer healthcare and an information-rich society. Exactly how each country will respond to this challenge will doubtless depend not only upon innovations in science and technology, but also upon its social values and cultural heritage.

 

More details about the PHG Foundation’s views on some of these issues can be found in our response to the recent consultation from the Nuffield Council on Bioethics on “Medical Profiling and online medicine: the ethics of ‘personalised' healthcare in a consumer age".