Page URL:

Who is afraid of more informed patients? Public fear mongering by the Swiss Academy of Medical Sciences

11 February 2013
By Dr Barbara Prainsack and Dr Daniela Steinberger
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.

1) Aktuell Porträt Publikationen Medien Ethik Forschung Projekte
Schweizerische Akademie der Medizinischen Wissenschaften |  12/12
2) Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease
National Research Council of the National Academies (pdf) |  2011
3) Personalised Medicine for the European Citizen – towards more precise medicine for the diagnosis, treatment and prevention of disease
European Science Foundation |  2012
4) Adoption of Pharmacogenomic Testing by US Physicians: Results of a Nationwide Survey
Nature Clinical Pharmacology & Therapeutics |  25 January 2012
5) Pharmacogenomic Testing: Knowing More, Doing Better
Nature Clinical Pharmacology & Therapeutics |  03/12
11 March 2013 - by Cristy Gelling 
In the decade since the human genome was first sequenced, the cost of reading a human genome has dropped from around US $100,000,000 to around US $6,000. In the past year the target has shifted from the '$1000 genome' to the '$0 genome'...
5 November 2012 - by Professor Donna Dickenson 
The soaring promises made by personalised medicine advocates are probably loftier than in any other medical or scientific realm today. Francis Collins, former co-director of the Human Genome Project, wrote: 'We are on the leading edge of a true revolution in medicine, one that promises to transform the traditional "one size fits all" approach into a much more powerful strategy'...
12 March 2012 - by Dr Rebecca Hill 
Genome sequencing for all, the abuse of stored genetic data and red tape halting research are just some of the issues the NHS will have to deal with this year, according to Sir John Burn, professor of clinical genetics at the University of Newcastle, chair of the British Society for Human Genetics (BSHG)...
8 August 2011 - by Dr Rebecca Hill 
'The age of personalised medicine: genes, privacy and discrimination?' was the last in BioCentre's 2010/2011 symposium series 'Revolution, Regulation and Responsibilities', and promised to 'appraise current developments and consider the current legal and regulatory position for their use before taking time to reflect and assess the future impact on society'...
23 May 2011 - by Nishat Hyder 
'Will pharmacogenetics lead to colour-coded medicine?' was the question posed at the Progress Educational Trust (PET)'s panel discussion on 10 May 2011. This event, which is part of a wider project, 'Genes, ancestry and racial identity: Does it matter where your genes come from?' was held at the Foresight Centre, University of Liverpool...
24 May 2010 - by Naomi Moskovic 
The author of this book was head of the Human Genome Project at the time when the pioneering work to sequence the human genome was carried out. Furthermore, the cover of the paperback carries an endorsement of his work from no less than Barack Obama. So this is an important book...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.