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. 



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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