Who is afraid of more informed patients? Public fear mongering by the Swiss Academy of Medical Sciences
11 February 2013
Dr Prainsack is a Reader at the Dept. of Social Science, Health & Medicine at King's College London; she co-chaired the ESF Forward Look on Personalised Medicine. Dr Daniela Steinberger is a Lecturer in human genetics at the Justus Liebig University Giessen, clinical geneticist at bio.logis Center for Human Genetics, Frankfurt, and founder of bio.logis GmBH, an IT company developing tools to provide access to genetic information for all actors in the healthcare system.Appeared in BioNews 692
In December 2012 the Swiss Academy of Medical Sciences (SAMW) published a position paper on the 'Potential and Limits of "Individualised Medicine"' (1). Instead of a critical discussion of the challenges and potential benefits of the current shift towards personalised medicine, as the position paper's title would suggest, it instead illustrates a concerning instance of public fear mongering based on factual mistakes and misinformation.
The paper states that some direct-to-consumer (DTC) genotyping services include prognostic information on fatal neurodegenerative diseases such as Huntington's disease. To the best of our knowledge, no provider of DTC genetic testing provides personalised genetic information on this disorder. Current high-throughput methods would not even be suitable for this purpose because of the specific type of mutation that causes Huntington's disease.
Another example for the kind of misinformation that characterises the position paper is the contention that family histories have a better predictive value for individual health and disease than genetic susceptibility testing. While we agree that family histories are an invaluable tool in clinical genetics, and for diagnosis more generally, the assertion that they are generally better predictors than genetic testing is problematic for at least two reasons.
Firstly, most carriers for recessively inherited diseases have no known family history of the disease. In such cases, a person's carrier status is not detectable on the basis of a family history; it would only become apparent once the affected person or biological relatives show clinical symptoms. Secondly, offering comprehensive family histories taken by a physician to every person is an unrealistic scenario, not least because of scarce resources.
The Academy's position paper also contains numerous unsubstantiated claims that seem to be geared towards spreading fear in the general public of developments challenging the clinical status quo. Warnings that, for example, medical professionals are not fully aware of their responsibilities towards the sensitive nature of data generated by personalised medicine, is prone to scare people off participating in data-rich medicine.
Of course we should not blindly buy into the claims of those who have stakes in the advancements of personalised medicine, most prominently, the claim that personalised medicine will save costs. Considering individual characteristics in prevention, diagnosis, treatment, and monitoring is likely to save costs in some cases, but increase costs in others. The same applies to the opportunities and limits of personalised medicine more generally. These cannot be assessed at a general level, but only in their specific institutional, technical, and practical configurations.
Two reports have recently taken on the challenge of mapping the conditions of the possibility, and the likely implications, of personalised medicine in a nuanced manner; one by the US National Academy of Sciences (2), and one by the European Science Foundation (3). It is noteworthy that the position paper of the Swiss Academy of Medical Sciences does not even mention these reports. Instead, it rehearses common prejudices and stereotypes related to the dangers of more informed patients. Scared patients, of course, are easier to govern.
The position paper does diagnose deficiencies in current knowledge of the science underpinning personalised medicine within the medical profession. This is indeed an important concern (4,5). The solution to this problem however cannot consist merely of the allocation of more resources to medical professionals within the healthcare system.
The translation of knowledge into health-improving practices in the clinic and beyond will require the distribution of knowledge using open access tools and web-based solutions wherever reasonably possible. Such a measure will provide a useful basis for fruitful collaborations between better informed patients and better prepared physicians.