Memorandum by the ESRC Centre for Social
and Economic aspects of Genomics (CESAGEN), Cardiff and Lancaster
This evidence is submitted on behalf of the
ESRC Centre for Economic and Social Aspects of Genomics (Cesagen),
a collaboration between Cardiff and Lancaster Universities. It
is part of the ESRC-funded UK Genomics Network which was established
to provide significant research capacity to examine developments
in genetic technologies and their social implications. Cesagen
was established in 2002 and has completed a substantial programme
of research on biomedical genetics. Staff are drawn from a number
of disciplines and work in interdisciplinary teams, which allows
all aspects of social and scientific issues to be examined in
a collaborative manner. The views represented here are based on
our shared research expertise, but do not represent the views
of the Economic and Social Research Council.
Our submission is addressed primarily to the
Committee's interest in the use of genomic information in a healthcare
We summarise two key, closely related issues
concerning the development of genetic testing and its implications
for primary and secondary health care. We identify the emergence
of the "genetic iceberg" of anxious patients who have
moderate risk but limited access to counselling or other healthcare
resources. We also note the spread of genetic medicine into clinical
specialties that have not hitherto been concerned primarily with
genetic testing and its management. We note that separately and
in conjunction, these two trends are likely to create a burden
of need for genetically-based counselling, monitoring and support
that will outstrip current provision. The submission is based
on fundamental and strategic research carried out by ourselves
and others in the UK research community.
3. CURRENT TRENDS
The following trends form the background to
(i) The identification of risk and susceptibility
genes for an ever widening range of conditions.
(ii) The transformation of disease categories
and classifications, based on genetic evidence.
(iii) The likely expansion of genetic testing,
including population screening, for major disorders; cancers,
haemochromatosis, sickle-cell, thalassaemia.
(iv) The translation of genetic research into
major clinical specialtiescardiology, neurology, haematology,
(v) The emergence of genetically-based methods
of diagnosis and risk assessment beyond the conditions, and beyond
the clinics, hitherto the preserve of specialists in genetic medicine,
including genetic counsellors.
4. THE RESEARCH
Our observations are based on the following
robust research findings that have been replicated across a number
4.1 Risk and anxiety
The identification of "risk"especially
for a medical condition that is life-threatening, or that may
lead to significant impairmentcan lead to expressed anxiety
on the part of those at risk. Anxiety per se is not correlated
with the level of risk in a simple fashion. Anxiety is most likely
to be expressed by individuals identified as having a "moderate"
risk. Those with a low risk and those with high risk do not express
the same anxieties (for different reasons). (Bharadwaj, 2006)
While those with a low risk may feel that that
is sufficient cause for reassurance, those with high risk have
greater access to genetic counselling, medical or surgical intervention
(eg prophylactic surgery for breast cancer), regular screening
(eg for colorectal cancer) and clinical treatment (eg haemochromatosis).
In other words, anxiety is high when scarce resources of healthcare
and counselling are not available to those with "moderate"
There is, therefore, the clear likelihood of
creating a widening pool of anxious pre-patients who are at risk,
but who do not qualifyon grounds of level of riskfor
specialist intervention. Existing specialist services in genetic
medicine and genetic counselling do not currently have the capacity
to take up this potential burden of monitoring, advice and healthcare
4.2 Translation of genetic medicine
The translation of genetically-based medicine
into clinical specialisms beyond Genetic Medicine itself, raises
serious implications for the conduct of clinical medicine and
intervention into family relations.
Within the specialty of medical genetics, there
are highly developed professional procedures for the management
and disclosure of genetic information. The translation of genetically-based
diagnosis and prediction into other specialties, with practitioners
not trained in genetic counselling or supported by specialised
counsellors or genetic nurses, may lead to interventions that
do not abide by such standards of practice. There is, for instance,
as yet unpublished evidence of clinics contacting family members
directly and/or engaging in much more directive interventions
than has been the norm in medical genetics (where the practice
has been based on non-directive counselling and the avoidance
of direct family contact, except through and with the express
consent of probands). (Marks, D, 2002)
4.3 Genetic information
All of the available social research indicates
that the transmission of genetic information to probands, and
from them to family members, is variable and contingent (Gaff,
C, 2007). Information imparted in the genetics clinic is often
remembered and interpreted in ways that do not reflect the intentions
of the professional practitioners providing such information.
Genetic information (such as risk values and patterns of inheritance)
is interpreted by family members in accordance with lay theories
of inheritance, lay understandings of risk values, and the dynamics
of family communication (Featherstone, K, 2006, Arribas-Ayllon,
M, 2008 a,b). The transfer of genetic information between family
members is heavily dependent upon mutual perceptions of who is
able to "cope" with that information, and who needs
that information. Such lay assessments and understandings cannot
be assumed to be congruent with geneticists' and other professionals'
assessments nor with biological/medical models of inheritance
(Atkinson, P, 2003). There is, therefore, considerable scope for
misalignment between professionals and clients. There is evidence
that such problems of misalignment can be exacerbated when diagnoses
and risk assessments are being provided by specialists who are
not familiar with genetic conditions: our own family interviews
with worried parents of children with conditions such as haemophilia
(Gregory, M, 2007, Boddington, P, 2008). If genetic medicine is
to be used to inform individualised medical advice, it is clear
that detailed consideration needs to be given to the management
of genetic information, not only in specialist genetics clinics,
buteven more pressinglyin primary and secondary
healthcare settings where trained genetic specialists are not
5. TRAINING AND
As we have indicated, the expansion and translation
of genetically based medicine is predicted to create a considerable
burden on healthcare professionals and services. Unless substantial
resources are made available for the continuing professional education
of existing practitioners, and for the training of new genetic
counsellors, then the visions for genetic medicine (for instance
as outlined in the 2004 white Paper) (Department of Health, 2003)
cannot be realised. There is the danger that genetic informationpoorly
understood by lay clientswill not result in well-informed
publics, and will not result in appropriate health behaviour.
At present the only advanced training for genetic counsellors
in the UK is provided through Masters courses at Manchester and
Cardiff Universities (for links, see references). These two courses
currently produce c.25 graduates per annum (including overseas
students who do not intend to practise in the UK). It is clear
that such small numbers are insufficient to meet the needs of
There is equally clear need for codes of professional
conduct and protocols of practice to be agreed between specialists
in medical genetics and other specialists, given that the latter
will increasingly find themselves transmitting genetic information
in clinical settings. Translation of genetic medicine needs to
be accompanied by the translation of best practice into new fields
of specialist practice.
Arribas-Ayllon M, Sarangi S, Clarke A. (2008a) The
micropolitics of responsibility vis-ávis autonomy:
parental accounts of childhood genetic testing and (non)disclosure.
Sociology of Health and Illness. Mar; 30(2):255-71.
Arribas-Ayllon M, Sarangi S, Clarke A. (2008b) Managing
self-responsibility through other-oriented blame: Family accounts
of genetic testing. Social Science and Medicine. April ;66 (7):1521-32.
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Atkinson P, Bharadwaj A, Featherstone K. (2003) Inheritance
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AJ, (ed) New Technologies in Health Care: challenge, change and
innovation. Basingstoke and New York: Palgrave Macmillan, pp 11-24.
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Marks, D, Wonderling, D, Thorogood, M, Lambert, H
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