News archive 2008
King’s commentary on genome testing06 Nov 2008, PR 235/08
A commentary in Nature today on the need to regulate direct-to-consumer genetic and genomic testing, which currently allows people to analyse how susceptible they are to certain diseases, has been written by a Senior Lecturer in the Centre for Biomedicine & Society (CBAS) at King’s.
Since the introduction of direct-to-consumer, whole-genome testing in 2007, a handful of newly-founded companies are now offering consumers disease susceptibility information based on the analysis of their genome.
In response to calls from academics, ethicists and scientists to regulate this newly emerging market, Dr Barbara Prainsack and her co-authors are urging regulators to refrain from endorsing regulatory models of the genetics era. For example, most regulatory regimes for ‘traditional’ medical genetic testing are based on the assumption that testing takes place in a clinical context, which does not apply to the personal genomics market.
To undertake genome testing, companies look at up to a million of the single-point genetic variations known as single nucleotide polymorphisms (SNPs) in the DNA of their customers. For fees ranging from £250 to £1,600, customers receive information on their personal genetic predisposition to various diseases, and to so-called ‘recreational’ traits such as bitter taste perception, eye colour, and ear wax consistency. Some companies also provide information on genetic ancestry.
This business model has raised fears in the research and public health communities. Reasons for this are that the clinical utility of test results is typically very low; doctors are often unable to interpret the information; and customers could feel unnecessarily frightened or erroneously relieved about their own disease risks. Others argue that privacy would be endangered in unprecedented ways.
In the commentary Dr Prainsack and her colleagues acknowledge a need for regulation of SNP-based whole-genome testing, but they also urge regulators not to overreact: ‘The extension of existing regulation of genetic testing for medical purposes to personal genomics could have unintended consequences. For example, if personal whole-genome scans are treated as medical tests, then this would call for the involvement of doctors or other health care professionals.’
Many doctors and genetic counsellors, however, do not want to be involved in the interpretation of whole-genome data because of its low clinical utility. In addition, libertarians have argued that involving doctors compromises the confidentiality of the data more than it helps the patient/customer, as most doctors have not been trained to interpret whole-genome scans.
The authors argue that there are several ways in which personal genomics challenges the categories and distinctions which regulatory mechanisms of the genetics era had been based upon: for example, the distinction between medical and non-medical; and the distinction between experts and lay people. A genome scan is not purely ‘medical’ as it also produces genealogical and recreational information. Furthermore, personal genomics blurs the boundary between the concept of the ‘donor’ in medical genetics research, and customers of genetic information: some companies recruit their paying customers for genetic research studies.
It is doubtful how long personal whole-genome testing will survive as a stand-along service, argues Dr Prainsack. ‘Personal genomics customers are already going through a process of disenchantment. It is increasingly clear how little power SNP-based readouts of a person’s ‘genotype’ offer for predicting future ailments in an individual.’ Reported frustrations of ‘early adopters’ with the kind of information they have received show that fascination may be fading.
Dr Prainsack’s team also predicts that insurance companies will find little to gain from SNP data alone. SNP data are meaningful when embedded in lifestyle data, medical records and family disease histories. For example, if a person is told that he/she has a 16 per cent life time risk to get Type 2 diabetes, this information is much more meaningful if it is combined with information on the person’s BMI, diet and exercise habits, and whether any of the genetic relatives are suffering from the same condition. Without that, the predictive power of SNP-based whole-genome information for any phenotype is typically very low.
Dr Prainsack concludes: ‘Before regulatory action is taken, research needs to also address the question of how people actually use such data. The only evidence we have so far is from above-average wealthy (and presumably also health) “early adopters” of the technology.’
The authors emphasize that neither the questionable predictive medical value of SNP-based testing, nor the enthusiastic rhetoric about empowering individuals, should lead to the conclusion that the field should remain entirely unregulated: ‘The close relationships between modes of producing knowledge and producing economic value are too obvious.’
Notes to editors
King's College London
King's College London is one of the top 25 universities in the world (Times Higher 2008) and the fourth oldest in England. A research-led university based in the heart of London, King's has 19,700 students from more than 150 countries, and 5,400 employees. King's has an outstanding reputation for providing world-class teaching and cutting-edge research. The College is in the top group of UK universities for research earnings and has an overall annual income of approximately £450 million. An investment £500 million has been made in the redevelopment of its estate.
King's has a particularly distinguished reputation in the humanities, law, social sciences, the health sciences, natural sciences and engineering, and has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA. It is the largest centre for the education of healthcare professionals in Europe and is home to five Medical Research Council Centres, a total unsurpassed by any other university.
The Centre for Biomedicine and Society (CBAS)
The CBAS is a leading international centre for social science research on biomedicine, translational research and the political forces driving the global bioeconomy. Since 2001 the group including; Professor Clare Williams, Professor Steven Wainwright, Professor Brian Salter and Dr Barbara Prainsack has been awarded over £5 million in research funding (with £1.3 million from the ESRC, £1.5 million from the Wellcome Trust, and €2.3 million from European sources) for their interdisciplinary research programme on new medical technologies, and has published over one hundred papers in leading international journals.
Kate Moore, Public Relations Officer (Health Schools)
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