Genetics and the
NHS
Expanded version of article in 'Health
Matters', 27 June 2002
David King
Nowadays,
whether it is cloning animals, or the latest gene linked to disease,
human genetics is always in the news. Genetics has become a
central strand in medical research, and huge international projects,
such as the Human Genome Project are said to promise a medical
revolution through which we will all live longer and healthier
lives. Governments and
industry have invested massively in genetic research, believing it
will be a key driver of economic growth in the future. But
what are the real implications of genetics for public health and for
the NHS?
Amongst the promised benefits of human genetics
research are:
- Better
understanding of disease, leading to better drugs: by
understanding which genes are involved in diseases, it may be
possible, for example, to distinguish between different mechanisms
which lead to the same disease symptoms. Identifying the key
molecules involved in disease may allow scientists to design drugs
that work better.
- Personalised
preventive medicine, based on prediction of our genetic
susceptibility to disease: it may be possible to build up a
'genetic profile' for each individual, detailing which diseases
they are most likely to get, so that they may take preventive
measures, such as lifestyle changes or drugs to avoid
them.
- Gene
therapy: in some cases it may be possible to directly 'fix' genes
that are responsible for disease, by introducing correctly
functioning versions of those genes directly into the relevant
organs.
- Pharmacogenetic
drug prescription tailored to our individual genetic profiles:
there are genetic differences between people that may determine
whether we respond well to certain drugs or if they will have
dangerous side-effects.
By testing these genes, doctors may be able to prescribe
the right drug for the patient first time and avoid side
effects.
Genetics
has already led to medical benefits, but it is very uncertain
whether it can live up to the hype which currently surrounds
it. For example, after
more than a decade of research into gene therapy, we are only now
beginning to see a few small successes. Research on working out the
molecular basis of disease, and on pharmacogenetics is still at a
very early stage, while new drugs arising from the Human Genome
Project are at least ten years away.
A
more fundamental problem is the complexity of disease. Although there are
relatively rare genetic diseases that are due to mutations in a
single gene, in most cases, our susceptibility to disease is due to
a complex mix of multiple genes interacting with the
environment.
Unfortunately, both scientists and the media often fall into
the 'genetic determinist' trap of simplistically over-emphasising
genetic causes. It is
very possible that the complexity of genetics and environmental
factors will frustrate attempts at accurate and reliable prediction
of whether someone will suffer from a particular disease. This
uncertainty may also mean that scenarios of genetic discrimination
and eugenics are exaggerated, since they may not be technically
feasible.
Not
only is genetic determinism bad science, but it may result in a
downgrading of research into social and environmental causes of
disease which, in most cases, play a larger role than genes. Traditional public health
approaches aim to improve environmental and social conditions for
everyone, but the approach of focusing on people with high genetic
susceptibility, whilst superficially attractive is full of
problems. People with
high susceptibility may be stigmatised, and, for example, be
excluded from certain work environments, on the pretext that this is
in their interests. A
better approach, which would benefit everyone, would be to set the
safety levels for environmental chemicals at a level that even the
most susceptible are safe, as is the rule for pesticide residues in
food. Focusing on
people with high susceptibility may also give the false impression
that others need not be concerned about their lifestyle and diet,
and that society need not worry, for example, about income
differences that are a major cause of ill health. An example of such
'technical fix' strategies is the possibility that people identified
to have high genetic susceptibility will be prescribed preventive
drugs for their whole life.
While this might benefit them, this would make healthy
people, many of whom would never have become ill, dependent on
drugs. The
strategy seems to be primarily designed to make money for drug
companies.
Strategies
for the NHS
At
present, genetics is a specialist service in the NHS, organised into
23 regional genetics centres, whose work focuses on the rare
'single-gene' disorders, such as cystic fibrosis. In most cases people are
aware of the presence of the disease in their family, because of an
existing case, such as an affected child. The centres employ genetic
counsellors, who give counselling on reproductive issues, and
late-onset disorders such as Huntington's disease. Many people are referred to
the regional genetics centres by their GPs, who on the whole are not
well informed about genetics.
In addition to the now-routine ultrasound scanning
programmes, most pregnant women are screened for Down's Syndrome,
and certain ethnic minority communities are screened for thalassemia
and sickle cell disease.
The DH
has been discussing the possibility of a national antenatal genetic
screening programme for cystic fibrosis for a number of
years.
Over
the last few years, the avalanche of genetic data has increased
expectations about clinical applications, and the Department of
Health has gradually been preparing strategies for the NHS. In April 2001, Alan Milburn
announced £30 million of new funding to strengthen the existing
structures, and to set up six new 'Genetics Knowledge Parks' to
improve the transfer of basic research into clinical practice. Mr
Milburn said there would be no 'Big Bang' in genetics, but rather a
gradual introduction of new tests and techniques. Later this year
the Department will publish a Green Paper on genetics and the
NHS.
Public
health genetics and eugenics
The
potential expansion of genetic screening raises important
concerns. Many disabled
people and others see these services as part of an ongoing policy of
eugenics. Although
genetic counselling is officially non-directive, there is
considerable evidence of persistent eugenic attitudes and practices
amongst doctors. Even
if this were not the case, the funding of screening programmes is
clearly designed to reduce the birth of disabled people, and the
reduction of financial burden for care of disabled people often
forms an explicit part of their justification. In existing prenatal screening
programmes women are often unaware that they are being tested for
foetal impairments, and so do not have an opportunity for informed
choice about whether they wish to go down this
route.
The
Green Paper is a vital opportunity to improve existing programmes by
the provision of adequate funding, to allow counselling for real
informed choice about participation. New
genetic screening programmes must not be introduced without wide
public debate. Public education (including education of healthcare
workers) about genetics should have an explicit emphasis on the
rights and value of disabled people.It
should be noted that eugenics may be driven not only by reproductive
decisions but also by genetic susceptibility testing in general
medical practice. As
people discover their genetic weaknesses, they may come under social
pressure to avoid having children with certain partners, or at
all. This is in itself an important reason for restricting genetic
testing to cases where there is a clear clinical benefit.
Counselling
and confidentiality
It
is expected that the first application of genetics to make a major
impact will be an expansion of genetic testing, especially
pharmacogenetic tests.
Even
with the new funding, it is clear that regional genetics centres
will not be able to cope with a radical expansion of testing, and
many commentators expect testing to take place in the primary care
context. This is especially likely with pharmacogenetic tests
because these may apply to many drugs routinely prescribed by
GPs.
This
immediately raises two problems. Firstly, it is unclear where
the resources for the massive job of training GPs and practice
nurses in genetics are coming from. Secondly, even if there were
adequate trained personnel, counselling is an essential part of the
genetic testing process.
Counselling is time-consuming and therefore expensive. There is a worrying recent
tendency in the bioethics literature to minimise requirements for
counselling. It is
often suggested for example, that pharmacogenetic tests need minimal
counselling since they do not reveal sensitive information about
disease susceptibility.
This assumption is not necessarily true, and, furthermore,
information about probable drug efficacy may reveal important
information about prognosis.
It is vital that the government does not try to introduce
genetic testing 'on the cheap'. Healthcare staff must be
properly trained in non-directive genetic counselling before genetic
tests are introduced.
With
the expansion of genetic testing will come an increased amount of
personal genetic information held on medical records. For many good reasons,
including the possibility of genetic discrimination by insurers,
most people see such data as more sensitive than other medical
data. However, in its
recent regulations under Section 60 of the Health and Social Care
Act, which cover access to non-anonymised personal medical data by
researchers and others, the government has made no distinction
between genetic and other data. The regulations legalise
access to data for a very broad range of purposes, and have been
condemned by many patient and consumer groups as violating the basic
principle of informed consent.
If personal data becomes public, either through negligence or
on purpose, there is currently no redress for individuals, other
than litigation, which will be prohibitively expensive for most
people. The Human Genetics Commission, which advises the government
on broad policy issues related to genetics, recently recommended a
new offence of theft of genetic data. While this is to be welcomed, it
falls far short of the comprehensive genetic privacy legislation
which many commentators have argued for.
Industry
involvement in NHS research
There
is increasing interest in human genetics in having access to
thousands of samples, in order to compare genetic variations with
medical history and lifestyle information. By comparing the DNA of
patients with, say, diabetes, it may be possible to identify which
genes leads to predispositions to the disease. The Medical Research Council
and the Wellcome Trust have announced plans for a UK National
'Biobank', which will collect DNA samples and medical data from
500,000 middle-aged people. According to the MRC, access by drugs and biotechnology
companies to the Biobank will be crucial to its success.
Last
year, leaked papers from a committee advising the DH on the Green
Paper confirmed suspicions that the BioBank project, large as it is,
is just a pilot for a future scheme involving the entire electronic
medical records system of the NHS. A similar scheme has been
set up in Iceland and has proved extremely controversial, because of
concerns about consent, confidentiality and commercial
involvement. It should
be noted that the construction of a national electronic medical
records system, which has moved very slowly until now, partly
because of fears about breaches of confidentiality, would be
extremely expensive.
Thus, for the government, one
incentive for allowing industry access would be to recoup part of
the cost by charging industry fees for access.
One
of the leaked papers, by Crispin Kirkman, Director of the
BioIndustry Association, (which represents UK biotechnology
companies) praises the Icelandic scheme and envisages the large
scale sale of NHS patient data to industry. It also talks about
competition between countries to be the preferred site for such
research. The paper envisages a detailed
regime of relationships between drugs companies and the NHS, and
advocates training of NHS staff to manage the financial aspects of
such arrangements.
On
consent, it should be noted that if it becomes routine practice for
hospital patients to be involved in research, it is difficult to
believe they will be properly informed about the research they are
giving consent to, that their medical data will be sold to drugs
companies, who may even patent genes based on the research.
The
issues of compensation and patents are complex. However, genetics
diagnostics companies have already established a clear record of
attempting to charge high prices for the use of genetic tests based
on patented genes.
There is no reason why the NHS should honour gene patents,
since they are based on discoveries, rather than inventions. If the NHS does allow access
to patients' samples, compensation should be based on fees for
access, rather than arrangements which depend on the uncertain
commercial success of products derived from the research.
Conclusion
Although
the impact of genetics is still unclear, if the more optimistic
predictions of scientists are realised, the impact on the overall
paradigm of healthcare, and as a result, the structure of the NHS,
will be profound. The
geneticisation of medicine seems likely to accelerate existing
trends towards capital-intensive high-tech applications, and thereby
increase the influence of industry within the system. Whether this will be in the
interests of patients' health is debatable. It is certainly vital that
anyone who is concerned with the future of medicine and the NHS
starts to consider these issues now.
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