Memorandum by the ESRC Centre for Economic
and Social aspects of Genomics (CESAGEN) Cardiff and Lancaster
Universities
1. INTRODUCTION
Cesagen's "Biomedicine, identity and behaviour"
theme has produced a large body of detailed, ethnographic work
examining on biomedical knowledge, genetic medical conditions,
kinship, personal identity and the communication of genetic risk
information within families (cf Featherstone et al, 2005,
2006; Arribas-Ayllon et al, 2008a, 2008b). Its research
agenda (2007-12) is now turning to identification of "susceptibility
genes" for complex multifactoral conditions in the field
of psychiatry. This prior and ongoing work informs this response.
Our submission is focused on the following questions
presented in the call for evidence under the heading "Use
of genomic information in a healthcare setting":
What impact will genomic information have on the
classification of disease? How will it affect disease aetiology
and diagnostic labels? How useful will genomic information be
as part of individualised medical advice? What provisions are
there for ensuring that the individual will be able to understand
and manage genomic information, uncertainty and risk?
2. WHAT IMPACT
WILL GENOMIC
INFORMATION HAVE
ON THE
CLASSIFICATION OF
DISEASE? HOW
WILL IT
AFFECT DISEASE
AETIOLOGY AND
DIAGNOSTIC LABELS?
Neuropsychiatric disorders represent a rapidly
changing field where genetic medicine is emerging as an important
diagnostic, treatment and risk assessment tool. The identification
of "susceptibility genes" for psychiatric conditions
(including schizophrenia and bipolar disorder), has the potential
to transform the classificatory basis of psychiatric diagnosis
and treatment, and to challenge the epistemological basis of at
least some psychiatric practice.
Within the field of psychiatry, there has been
a long history of contested classifications, particularly for
psychosis and bipolar affective disorders. At present, these disorders
are treated as distinct entities with separate underlying disease
processes and treatments. However, many individuals with severe
psychiatric illness ("psychosis") have both prominent
mood and psychotic symptoms "raising the possibility, indeed
the likelihood, that there is not a neat biological distinction
between schizophrenia and bipolar affective disorder" (Craddock
and Owen, 2005: 364). Recent evidence suggests that the current
criteria used for the classification of these conditions does
not map neatly onto patient experiences and symptoms. Genetic
epidemiology has already proved influential in shaping the nosography
of psychiatry and recent developments in molecular genetics are
beginning to provide evidence to challenge these traditional classifications.
This makes it increasingly difficult for psychiatrists to unambiguously
assign patients to distinct categories of major psychosis.
In addition, although the identification of
susceptibility genes is at an early stage they are already having
an impact on family understandings of risk and transmission (Meiser
et al, 2005), and "will have a major impact on our
understanding of disease pathophysiology and will lead to changes
in classification and the clinical practice of psychiatry"
(Craddock, et al, 2005: 193). It is therefore timely and
important to examine the personal and professional responses to
these new challenges, the role of stigma and the personal consequences
of the practices of medical classification and the assessment
of risk.
3. HOW USEFUL
WILL GENOMIC
INFORMATION BE
AS PART
OF INDIVIDUALISED
MEDICAL ADVICE?
WHAT PROVISIONS
ARE THERE
FOR ENSURING
THAT THE
INDIVIDUAL WILL
BE ABLE
TO UNDERSTAND
AND MANAGE
GENOMIC INFORMATION,
UNCERTAINTY AND
RISK?
Genetic testing for psychiatric disorders is
becoming commercially available with venture capitalists and scientists
seeking to establish niche markets by selling "direct-to-consumer"
testing. Psynomics (www.psynomics.com)
have developed a test that helps diagnose people with bipolar
disorder (Couzin, 2008). Companies such as SureGene (www.suregene.net/home.aspx),
are developing tests for other psychiatric disorders while NeuroMark
(www.neuromark.com)
are marketing a test for pharmacogenetic responses to anti-depressant
treatment. The success of the business model in driving these
developments is likely to encourage further biotech companies
to circumvent existing psychiatric healthcare models in favour
of personalised medicine. In the UK, recent media coverage (Observer,
3 February 2008; The Daily Telegraph, 4 February 2008;
The Express, 5 February 2008; The Times, 10 March
2008) has raised public awareness and expectations of these scientific
developments as well as fears and concern about the commercial
availability of predictive and diagnostic testing. Psychiatrists
and doctors have warned that the proliferation of such direct-to-consumer
testing will mislead and confuse consumers (Observer, 3
February 2008; BBC News, 11 March 2008). Providing individuals
with the likely risk of developing psychiatric disorders is not
straightforward, and may not account for the complex interaction
of genetic and environmental factors.
While susceptibility testing within psychiatric
practice is only a theoretical possibility at present, the identification
of susceptibility genes has significant implications for individual
patients and their family-members.
New exploratory research is needed in order
to assess the likely consequences of these developments for individuals
and family members, for psychiatrists, genetic specialists and
mental health professionals, and the potential demands on healthcare
services. The ongoing collaboration between Cesagen, Psychological
Medicine, Medical Genetics, Social Sciences, and the Wales Gene
Park at Cardiff University, will provide an evidence based assessment
of the likely personal and professional consequences of new genetically-based
diagnostic criteria and risk information. It will also inform
the ethical debate concerning the consequences of risk evaluation
for psychiatric conditions.
References
Arribas-Ayllon et al (2008a) Managing self-responsibility
through other-oriented blame: Family accounts of genetic testing
Social Science & Medicine 66 (7) 1521-1532.
Arribas-Ayllon et al (2008b) The micropolitics
of responsibility vis-á-vis autonomy: Parental accounts
of childhood genetic testing and (non) disclosure Sociology of
Health and Illness Mar; 30 (2): 255-71.
Craddock, N & Owen, MJ (2005) The beginning of
the end for the Kraepelinian dichotomy British Journal of Psychiatry
186, 364-366.
Craddock, N et al (2005) The genetics of schizophrenia
and bipolar disorder: dissecting psychosis Journal of Medical
Genetics 42: 193-204.
Featherstone et al (2005) Dysmorphology and
the spectacle of the clinic Sociology of Health and Illness 27
(5): 551-574.
Featherstone et al (2006) Risky relations:
Family and kinship in the era of new genetics Oxford: Berg.
Meiser et al (2005) Implications of genetic
risk information in families with a high density of bipolar disorder:
an exploratory study Social Science and Medicine 60: 109-118.
Observer, 3 February 2008.
The Daily Telegraph, 4 February 2008.
The Express, 5 February 2008.
The Times, 10 March 2008.
BBC News, 11 March 2008.
www.psynomics.com
www.suregene.net/home.aspx
www.neuromark.com
April 2008
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