Select Committee on Health Minutes of Evidence

Memorandum by GeneWatch UK (PI 18)


  1.  GeneWatch UK is a not-for-profit policy research group concerned with the science, ethics, policy and regulation of genetic technologies. Our aim is to ensure that genetics is used in the public interest. Our submission relates to the role of the pharmaceutical industry in the promotion of the concept of "genetic predisposition" or "genetic susceptibility" to common diseases.


  3.  "Seven month-old Tiffany could one day benefit from Roche's visionary approach to individualised healthcare . . . Roche is committed to integrating resources in the field of genetics and genomics to find new individualised solutions that address pre-dispositions long before an ailment even starts." [Emphasis added]. Roche "Predisposition" Movie. Available on:

  4.  Historically, the practice of medicine has involved the diagnosis and treatment of disease, whilst public health measures have attempted to reduce the incidence of disease in a population. Increasingly, medication is now prescribed to reduce risk of future illness. Selling medication to treat risk factors rather than diseases is immensely profitable for the pharmaceutical industry: for example, statins (to lower cholesterol levels) are now the biggest selling prescription drugs in the world.[24]

  5.  The definition of the "at risk" population to be treated has a major influence on the relative benefits and risks of preventive medication, its costs to the Treasury and the industry's profits. Until now, the medical profession has played a major role in deciding who is offered preventive medication via doctors' interactions with individual patients and via professional bodies which have established international guidelines for tests such as those for blood pressure and cholesterol levels. However, the role of the pharmaceutical industry in influencing guidelines for lowering cholesterol has recently sparked controversy.[25] The involvement of the medical profession in determining "at risk" populations for treatment is also changing with, for example, the approval of over-the-counter sales for statins.[26]

  6.  Genetic "predisposition" or "susceptibility" is a new means to identify "at risk" populations. As genetic testing becomes more widespread, it is important to consider how the "genetically susceptible" will be defined and who will be given preventive medication.


  7.  Common diseases are complex and most cases are influenced by multiple genetic factors; a significant environmental/lifestyle component; and interactions between different environmental, genetic and other biological factors.[27] Social and economic factors also influence risk. Much genetic research effort is now largely directed at common "polymorphisms" rather than rare mutations. Polymorphisms are common genetic variations, each of which can occur in between 1% to 50% of the population. It is unlikely that there is a simple relationship between common genetic variations and the risk of common disease.[28] However this complexity is rarely reflected in reports of genetic discoveries.[29]

  8.  Some important considerations in using genetic test information to define "at risk" populations include are listed below.

  9.  The large number of genetic variations that exist. A Single Nucleotide Polymorphism (SNP) is one type of polymorphism which occurs when only a single nucleotide (chemical letter) in the DNA sequence varies. There are 100,000 to 300,000 SNPs in the coding parts of the human genome.[30] Tests which identify polymorphisms have potentially staggering implications for the number of people who might be advised to take preventive medication. For example, suppose a panel of 22 genetic tests each identified 5% of the population as "at risk". If the whole population took this panel of 22 tests, statistical analysis shows that 2/3 of the population would have at least one "at risk" test result.[31] If the predictive value of the tests is low, most of these people would not benefit, and might be harmed, by taking preventive medication.

  10.  The poor predictive value of genetic polymorphisms. Tests for "genetic susceptibility" to common diseases typically have limited predictive value: many people with the "high risk" genetic variation do not get the disease and many people without it do. This results in large "numbers needed to treat" to prevent one case of disease.[32], [33]

  11.  There is poor reproducibility of associations between genes and common diseases. One recent study found that only six of 600 published associations between genetic variations and common diseases had been shown to be robust.[34] Another paper could confirm only nine out of the 55 most studied associations.[35] Strong associations between genes and diseases found in small, early studies were typically not confirmed by larger, later ones, which found either a weak association or none at all. Most genetic researchers do not validate their findings using independent data.[36]

  12.  That inherited genetic risk factors are not amenable to intervention. The aim of preventive medication until now has normally been to reduce the identified risk factor (eg lowering blood pressure or LDL cholesterol). The effect of the medication on the risk factor is normally assessed in clinical trials, limiting reliance on epidemiological studies. Inherited genetic risk factors cannot be changed. This means patients remain at "high genetic risk" for life. Assessing the utility of the intervention and/or the appropriate time-frame for medication then becomes considerably more difficult. Dealing with statistical confounders in epidemiological studies becomes a major problem.[37]

  13.  That genetic tests are easily marketed but complex to interpret. Most tests can be performed on DNA collected with a simple mouth swab and posted to a laboratory without the involvement of medical professionals. Genetic test kits are now being developed that might provide an instant read-out in a doctor's surgery, a pharmacy or in a person's home. For complex diseases, which depend on the interaction of many complex factors, a test result is likely to be misleading in the absence of other clinical information (such as family history) and professional interpretation.


  14.  Genetic tests can be marketed over the internet; in High Street stores, pharmacies or other retail outlets, such as sports centres; via alternative healthcare providers, private GPs or private hospitals; or via the NHS. There is no regulatory oversight or requirement for counselling.

  15.  Genetic tests which claim to identify genetic susceptibility or predisposition to disease are already being sold via the internet, often accompanied by advice to buy associated products (usually nutritional supplements).[38] Most of these tests are marketed in the US but some are available via a few private GPs and alternative healthcare providers in Britain. Professional bodies such as the American College of Medical Genetics (ACMG) oppose direct-to-consumer sales of genetic tests on the grounds that they are potentially harmful.[39] The ACMG states: "Potential harms include inappropriate test utilisation, misinterpretation of test results, lack of necessary follow-up and other adverse consequences".

  16.  One UK company (Sciona) was forced to withdraw genetic tests combined with dietary advice from the Body Shop in 2001, following criticism from leading scientists.[40], [41], [42], [43] One US company continues to sell tests for genetic susceptibility to heart disease, osteoporosis, immune disorders and some cancers in the UK via individual complementary health practitioners, together with recommendations for supplements and medicines.[44], [45], [46], [47], [48] Two health supplements companies (Health Interlink[49] and Nutri Ltd[50]) have marketed these tests in the UK but no longer feature them on their websites. In the US, other companies sell genetic tests which claim to identify susceptibility to obesity and addiction[51], [52] and several companies use genetic tests to market supplements and skin creams.[53], [54]

  17.  Genetic tests, reaching the market far earlier than new treatments, can provide a means of generating "near term revenue" from patented gene sequences.[55], [56], [57] Most patents claiming DNA sequences are for research tools or "diagnostics" (genetic tests).[58] Patent claims are always based on early studies (prior to publication), so most of the genetic associations in patent claims will not be robust.

  18.  So far, relatively small companies have been marketing genetic tests "direct-to-consumer". However, this will soon change with the involvement of the pharmaceutical industry, which may market tests with or without medical involvement. Companies such as GlaxoSmithKline have recognised the potential to expand the pharmaceutical market to healthy people identified as "predisposed" to future illness.[59]

  19.  The multinational pharmaceutical company, Roche is the world leader in the diagnostics (medical tests) market.[60] Roche aims to market genetic tests for "predisposition" to common diseases along with lifestyle advice or medication.[61], [62] Roche has a licensing agreement with the Icelandic biotech company DeCODE to discover and commercialise these genetic tests. They plan to market a genetic test for risk of heart attack within two to three years.[63], [64] However, their published evidence for this test has been criticised as weak by other scientists.[65]

  20.  In some cases, genetic tests may be valid and useful for some people, but inappropriate for widespread use. Mutations in the BRCA1 and BRCA2 genes are associated with a significantly increased risk of breast and ovarian cancer and are helpful to some women who have an unusually strong family history of breast cancer. Widespread testing is not recommended because mutations are rare; the risk associated with them is uncertain in the absence of a strong family history; and the options to reduce risk are limited (the main one is to have a prophylactic double mastectomy). The company Myriad which holds the US patents on these tests has been strongly criticised for running a misleading advertising campaign in the US which implies that the tests are suitable for every woman.[66], [67], [68], [69], [70], [71], [72], [73], [74], [75]


  21.  "Beyond the rare Mendelian subsets, genetic influences in common diseases are likely to be conditional on the environment. Testing for these low penetrance susceptibility genes is likely to be of limited clinical utility". European Society of Human Genetics, 2003.[76]

  22.  In the US, the Secretary's Advisory Committee on Genetic Testing (SACGT) reported in 2000[77] and recommended that four criteria should be used to assess the benefits and risks of genetic tests: analytical validity; clinical validity; clinical utility and social consequences. Analytical validity is how well the test measures the correct sequence of DNA, which depends on laboratory methods and quality assurance. Clinical validity refers to the accuracy of the test in diagnosing or predicting risk for a health condition, which depends on its sensitivity, specificity and predictive value. Clinical utility depends on how useful the test is for deciding who should be offered a particular health intervention. Even if a test is valid it is unlikely to be useful if there are better ways to decide who should be given a particular medicine (eg a different type of test or means of diagnosis), or if health advice (such as advice to stop smoking or eat healthily) should be the same for people with both positive and negative results. The SACGT recommended that the US Federal Drugs Agency (FDA) should be responsible for the review, approval, and labelling of all new genetic tests that have moved beyond the research phase.

  23.  Current practice in the US is that tests that are packaged and sold as kits to multiple laboratories require pre-market approval or clearance by the FDA. This means that the FDA will in some cases make an assessment of the clinical validity of the test (but not its clinical utility). A major loophole exists because tests that are not supplied as kits but provided as "clinical laboratory services" receive no such assessment. The FDA has the authority to regulate these so-called "home brew" tests but chooses not to do so.

  24.  Most genetic susceptibility tests currently sold in the US are "home brew" tests. One genetic test kit, marketed by Roche, has been approved by the FDA, to assess inherited risk of developing blood clots in the veins (venous thrombosis).[78] The link between Factor V Leiden mutations and venous thrombosis (its clinical validity) is relatively well established and this is now one of the most commonly performed genetic tests in US labs.[79] However, the test is controversial because its clinical utility is poor. It is not clear that patients with mutations should be treated any differently than other patients.[80]

  25.  The FDA is still considering the SACGT's recommendations. However, the SACGT has been disbanded and replaced by a new committee which includes a representative from Roche.[81] Roche has made an alternative proposal, which would involve weakening existing FDA oversight of genetic tests.[82], [83] The Roche proposal would limit FDA assessment of genetic test kits to the analytical validity of the genetic test: no clinical data would then be required. Roche argues that its proposed approach: ". . . would be ideally suited for emerging markers, such as those likely to be used for personalised medicine, in which solid claims for predictive ability might take years to develop".


  26.  In Europe, there is no regulatory assessment of any clinical data relating to genetic tests. Legislation covers only analytical validity, not clinical validity or clinical utility. The relevant European legislation is the Medical Diagnostic Devices Directive (93/42/EEC, as amended) and the In Vitro Diagnostic Devices Directive (98/79/EC). The latter is implemented in the UK via the Medical Devices Regulations 2002 SI2002/618.

  27.  The Regulations deal principally with the award of a "CE" mark to "relevant" devices which meet the required standards as assessed by one of the "Notified Bodies" approved by the Medicines and Healthcare Products Regulatory Agency (MHRA). The Regulations apply to genetic test kits sold for use by clinical laboratories and as self-test kits, but there is some uncertainty about their application to commercial testing laboratories, and also about whether "lifestyle" genetic tests (which give health advice but may not refer specifically to diagnosis or prevention of disease) fall within their scope. The main limitation is that, at best, they cover only analytical validity (ie whether or not the correct DNA sequence is identified) and require no clinical data to be supplied regarding the predictive value or utility of any test.

  28.  The Human Genetics Commission (HGC) has considered the issue of the sale of genetic tests direct to the public. It published its report Genes Direct in April 2003.[84] The report covers only direct-to-consumer sales, not sales via private medical practice or the NHS. The HGC concluded that "most genetic tests that provide predictive health information should not be offered as direct genetic tests" and that companies wishing to sell genetic tests should have to "convince a regulator that the test is suitable". However it provided no credible mechanism for this process to take place. The HGC recommended that the MHRA should oversee the wider issues such as clinical validity, clinical utility and the advice given to customers. However, the HGC opposed giving the MHRA the necessary statutory powers to undertake this task. Because current assessments of analytical validity are undertaken by "Notified Bodies" the MHRA has neither the necessary structure, remit or resources to assess the clinical validity or utility of genetic tests.

  29.  Last year's White Paper on genetics in the NHS[85] stated that the Government would consider the HGC's conclusions and "respond in due course". No Government response has yet been published.

  30.  Some mechanisms do exist to assess genetic tests within the NHS, however there are a number of significant limitations. The UK Genetic Testing Network (UKGTN) seeks to improve fair access and quality of testing for genetic disorders[86], [87] and will soon require all UK labs providing tests for the NHS to be accredited.[88] However, its remit does not cover the analytical validity or utility of "genetic susceptibility" tests. If UKGTN's remit were to be expanded to include common diseases, due consideration would need to be given for the need for transparency and for an open and inclusive process that can deal with the usually poor evidence base and limited predictive value of this type of test.[89]

  31.  The National Institute for Clinical Excellence (NICE) recently published its guideline on "Familial Breast Cancer".[90] GeneWatch welcomed the NICE guideline, which rightly recognises that BRCA1 and BRCA2 genetic testing is only appropriate for a small proportion of women who are from high-risk families. This responsible approach contrasts favourably with the US situation where these tests have been widely advertised on television and in magazines. However, it is unlikely that NICE will be required to make a detailed clinical assessment of the evidence base for all genetic tests in the future.

  32.  The National Screening Committee (NSC) has assessed the evidence for a number of proposed genetic screening programmes. For example, genetic screening has in the past been advocated for an inherited risk of blood clots (Factor V Leiden) and the blood condition haemochromatosis, but studies have now shown that genetic screening for these conditions is not useful because of the low predictive value of these tests.[91], [92] The NSC has rightly concluded in both cases that there is no evidence to support a screening programme, even in relatives of patients. However, this assessment applies only to screening programmes and does not amount to an assessment of the use of this or other tests in clinical practice in the NHS.

  33.  The role of the NSC may be undermined in future by the proposal in the Government's White Paper to consider the genetic screening of every baby at birth "to produce a comprehensive map of their key genetic markers, or even their entire genome". This "barcoding babies" proposal is highly controversial and extremely unlikely to be of any benefit to health.[93]

  34.  In addition to the lack of regulation, a number of broader policy issues need to be addressed. These include those listed below.

  35.  Cost-effectiveness of genetic "prediction and prevention". With the whole population potentially "at risk" and eligible for preventive medication, the cost implications of "genetic susceptibility" testing have been described as "staggering".[94]

  36.  Pros and cons of alternative prevention strategies. There is some evidence that many people dislike preventive medication and prefer alternatives, such as lifestyle changes.[95], [96] Population-based preventive measures (such as banning tobacco advertising, increasing tobacco taxes or tackling smuggling) are generally more effective than individually targeted measures.[97]

  37.  Impacts on public health. Genetic testing may wrongly imply that a only a minority of the population with "bad genes" need to stop smoking or eat a healthy diet. For example, testing smokers for "genetic susceptibility" to smoking-related diseases could mislead them about the risk of smoking and convince some people that they do not need to quit.[98], [99] This is why the tobacco industry has been heavily involved in funding academic research into "genetic susceptibility" to lung cancer,[100] despite the fact that twin studies show there is no significant inherited component.[101], [102]101 Similarly, the current rise in obesity is not caused by an increase in genes for obesity, but by over-eating and lack of exercise.[103]102 Although some rare genetic forms of extreme obesity are known, so far none of the dozens of genetic factors that have been linked to "normal" obesity have been confirmed.[104]103, [105]104

  38.  Impacts on health inequalities. Health inequalities continue to play a significant role in life expectancy in the UK and elsewhere. An over-emphasis on genetic risk factors can divert resources from addressing the major social and economic determinants of ill health.[106]105

  39.  Advertising. In the US, direct-to-consumer advertising of prescription-only drugs focuses on fears of death or disability to sell preventive medication.[107]106 Although such advertising is banned in Europe, there are no controls to prevent or restrict the advertising of genetic tests, which also provide a potential mechanism for the "marketing of fear".[108]107


  40.  "[Public health] problems are exacerbated by the concentration of funding on biomedical research and the failure to confront and work with vested interests, which promote and sustain unhealthy behaviour patterns". Robert Beaglehole, WHO, and co-authors, 2004.[109]108

  41.  "The dearth of [public health] evidence is not unrelated to the lack of funding of public health intervention research—with funding from research organisations and the private sector heavily directed towards clinical, pharmaceutical, biological and genetic research—and the lack of a clear and coherent set of Government priorities for the public health research which does exist". Derek Wanless, 2004.[110]109

  42.  Public health research has been neglected despite its enormous importance in reducing the incidence of disease. The Health Development Agency found that not more than 0.4% of academic and research output is relevant to public health intervention research. During March 2000 and October 2000, no MRC-funded projects were relevant to public health topics.[111]110

  43.  Important gaps in health research reflect biases within the health research economy which mean that research that is unlikely to be profitable or is of little scientific interest tends to be neglected.[112]111 Health priorities and the pharmaceutical industry's priorities are not necessarily the same. Public research funds tend to follow the research investment strategies set by industry, rather than the needs of the health service or public health. The Government's new Science and Innovation Investment Framework makes a welcome commitment to ensuring that the publicly-funded research base responds to the needs of public services as well as the economy; and to improving public engagement in science and technology issues.[113]112 However, in contrast to meeting the needs of business, the Framework does not identify ways in which the needs of public services should be identified and addressed.

  44.  Derek Wanless has warned that a possible consequence of the low status of public health research is that "pharmacological solutions might become the focus of primary prevention with considerable financial implications". Wanless states: "Substantial investment, or reprioritisation, is necessary if this imbalance in research funding is to be addressed".


  45.  "Within the next 10 years I believe we will see: . . . Genetic testing, symptomatic and pre-symptomatic, for a variety of common diseases such as colon cancer and many mental illnesses. Within the next 20 years there will be in addition: Full integration of genetics, diagnostics and medicines in developed countries. Fully developed "predictive medicine". Pre-symptomatic treatment in developed countries . . .". Sir Richard Sykes, former Chairman, GlaxoSmithKline.[114]113

  46.  The pharmaceutical industry is gaining increasing influence over the definition of "at risk" groups who are eligible for preventive medication. The larger the "at risk" population, the bigger the potential profits. Preventive medication is clearly beneficial in some circumstances. However, there has been a remarkable lack of public debate about the trend towards treating increasing numbers of healthy ("pre-symptomatic") people (most of whom will never get the predicted illness) and the alternatives, such as more investment in public health.

  47.  The marketing of genetic tests for "predisposition" or "susceptibility" to common diseases is expected to expand significantly over the next few years. Many tests are likely to be accompanied by "individualised" advice to take medicines or supplements ("pills for the healthy ill"). There are currently no regulatory controls to prevent misleading marketing or advertising, either "direct to consumer" or via the medical profession. The sheer number of genetic variations and the large number of spurious published associations means that it is virtually impossible for most medical professionals to make their own assessments of the clinical validity or utility of genetic tests.

  48.  GeneWatch UK recommends that the Committee addresses the following questions in its cross-examination of potential witnesses:

    —  What are the proposed marketing strategies of the pharmaceutical companies for genetic tests and associated health advice and medication?

    —  What steps do the Department of Health and the MHRA plan to take to control and regulate genetic tests? Will an independent assessment will be made of the analytical validity, clinical validity, clinical utility and social consequences of each genetic test?

    —  Will clinical data be required and will assessments be transparent and involve public consultation mechanisms?

    —  Will the Department of Health or the MHRA restrict the marketing of genetic tests, including direct-to-consumer sales and advertising?

    —  What role will the Government and regulators play in preventing people from being misled about their future health?

  49.  GeneWatch UK also recommends that the Committee gives urgent consideration to the need to:

    —  Establish an independent body to regulate genetic tests or give the MHRA the statutory powers to fulfill this role, including the powers to withdraw misleading tests from sale.

    —  Require this body to assess the clinical validity, clinical utility and social consequences of each genetic test via an inclusive, open and transparent process.

    —  Ban direct-to-consumer sales and advertising of genetic tests because medical involvement is necessary to properly interpret genetic test results.

    —  Recommend that a thorough assessment of the existing evidence on predictive genetic testing is made to inform future policy decisions (including numbers needed to screen and treat to prevent one case of disease, and potential costs).

    —  Redress the funding bias against public health research by recommending increased public and democratic involvement in setting medical research priorities.

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