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: http://www.roche.com/home/divisions/div_dms/div_dms_pred.htm
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.
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.
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.
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.
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.
However this complexity is rarely reflected in reports of genetic
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.
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.
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
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.
Another paper could confirm only nine out of the 55 most studied
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.
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.
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).
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.
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.,
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.,
Two health supplements companies (Health Interlink
and Nutri Ltd)
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,
and several companies use genetic tests to market supplements
and skin creams.,
17. Genetic tests, reaching the market far
earlier than new treatments, can provide a means of generating
"near term revenue" from patented gene sequences.,
Most patents claiming DNA sequences are for research tools or
"diagnostics" (genetic tests).
Patent claims are always based on early studies (prior to publication),
so most of the genetic associations in patent claims will not
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.
19. The multinational pharmaceutical company,
Roche is the world leader in the diagnostics (medical tests) market.
Roche aims to market genetic tests for "predisposition"
to common diseases along with lifestyle advice or medication.,
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.,
However, their published evidence for this test has been criticised
as weak by other scientists.
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.,
US REGULATION: THE
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.
22. In the US, the Secretary's Advisory
Committee on Genetic Testing (SACGT) reported in 2000
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
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
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.
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.
Roche has made an alternative proposal, which would involve weakening
existing FDA oversight of genetic tests.,
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".
UK POLICY AND
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
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
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,
and will soon require all UK labs providing tests for the NHS
to be accredited.
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.
31. The National Institute for Clinical
Excellence (NICE) recently published its guideline on "Familial
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.,
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
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
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.,
Population-based preventive measures (such as banning tobacco
advertising, increasing tobacco taxes or tackling smuggling) are
generally more effective than individually targeted measures.
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.,
This is why the tobacco industry has been heavily involved in
funding academic research into "genetic susceptibility"
to lung cancer,
despite the fact that twin studies show there is no significant
Similarly, the current rise in obesity is not caused by an increase
in genes for obesity, but by over-eating and lack of exercise.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.103,
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.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.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
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, 2004.108
41. "The dearth of [public health]
evidence is not unrelated to the lack of funding of public
health intervention researchwith funding from research
organisations and the private sector heavily directed towards
clinical, pharmaceutical, biological and genetic researchand
the lack of a clear and coherent set of Government priorities
for the public health research which does exist". Derek
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.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.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.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.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
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
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
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
Redress the funding bias against
public health research by recommending increased public and democratic
involvement in setting medical research priorities.
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