Regulating Human Genetic Tests:
Ten Key Questions
GeneWatch UK, April 2003
In April, the Human Genetics Commission (HGC) will publish its advice to Government on
the regulation of health-related genetic tests.
Human genetic testing has serious implications for consumers and for society
as a whole. Currently, there is:
? no independent regulator to check the information or advice that people are
given about genetic test results and the possible implications for their health;
? no legislation to prevent genetic tests from being sold or advertised directly
to the public.
The HGC indicated at its February meeting that, in the light of public concern, it would
reverse its earlier view that there should be industry ‘self-regulation’ of genetic tests and
propose that they should be regulated by the new Medicines and Healthcare Products
Regulatory Agency (MHRA). The MHRA is a new agency that is being created, from April
2003, by merging the existing Medicines Control Agency and Medical Devices Agency.
This is a welcome response to public concern about genetic testing, but its effectiveness
will depend on how and when this regulation is implemented and whether or not new
legislation is introduced.
If the HGC’s proposal is published and accepted, the MHRA would be required to assess
how valid and useful each genetic test is at predicting a disease, which medicine to use,
or other health advice to follow. However, without new legislation, the MHRA will not be
able to enforce any decisions that it makes - so it could not stop misleading tests from
Which genetic tests are currently available?
Most genetic tests are currently only available through specialist genetic testing services
in the NHS, where they are mainly used to diagnose genetic disorders or identify people
whose children might inherit such disorders. However, a number of companies are
already looking at ways of expanding the market for genetic tests:
? A US company, Great Smokies Diagnostics Laboratory, sells genetic tests claiming
to predict genetic risk of heart disease, osteoporosis, asthma and some cancers. In
Britain, they are being marketed mainly via alternative healthcare providers. The
controversial tests come with recommendations for supplements and medicines that 1,2the company claims will help prevent disease. ? The UK company Sciona is giving advice on what to eat and drink which it claims is 3tailored to an individual’s genetic make-up. The company’s genetic tests were
withdrawn from sale in the Body Shop last year after criticism by leading scientists. In
future, Sciona is planning to launch a series of genetic screens covering heart 4disease, skin care, drug metabolism, weight management and sports.
? In the US, Myriad Genetics is advertising genetic tests that claim to predict a 5woman’s risk of breast cancer. These predictions are unreliable if women do not
also have a strong history of breast cancer in their family. Another company is using 6genetic test results to market vitamin supplements.
Effective future regulation should mean that these misleading tests are not sold in Britain.
Q1. What are the key concerns that the Human Genetics Commission (HGC) must
recognise in its report?
? Companies may have a vested interest in exaggerating the value of a genetic test in
predicting a disease, or convincing customers that they should buy supplements or
medicines if they have a particular genetic make-up.
? The misleading marketing of genetic tests could be very damaging to public health. If
people become convinced that they should be given medicines they do not need, this
could lead to major burdens on the NHS and harmful side-effects. Other people could
be falsely reassured that their genetic make-up means they do not need to change
? Medicines are regulated to ensure that people are not misled and their health is not
damaged. For similar reasons, genetic tests also need strict regulation.
Q2. Will the Medicines and Healthcare Products Regulatory Agency (MHRA) be
able to stop misleading or unethical genetic tests and ‘genetically-tailored’
advice and products from being sold or advertised?
Current legislation covers the safety and technical performance of genetic tests but does
not cover the medical value of the test result – a major loophole in the law. This means
the MHRA will have no legal basis for assessing whether a genetic test is valid or useful,
so it will not be able to stop misleading tests from being sold or advertised. The HGC has
so far indicated that it will leave the MHRA to decide whether or not it needs new
legislation – unfortunately, this could mean that the necessary controls are abandoned or
delayed. The HGC should say that new laws are needed – otherwise, the regulator
will have no ‘teeth’.
Q3. Will the HGC’s proposals mean that people will get proper medical advice
(‘genetic counselling’) before and after they take a genetic test?
The full implications of taking a genetic test should be explained to people in advance
and the results must be properly interpreted. Tests for ‘genetic susceptibility’ to common diseases are particularly uncertain and disputed and can have implications for more than
one disease. Their predictive value may also be strongly affected by other factors, such
as family history. The HGC should recommend that genetic tests are offered only via
properly trained health professionals, not sold in shops or via other healthcare
Q4. Will the MHRA make an independent assessment of each genetic test and
associated advice or products?
Without regulation, doctors will be totally dependent on the information given to them by
genetic testing companies. Most claims to have discovered links between genes and
common diseases later turn out to be wrong or exaggerated. Even when a gene has
been confirmed to be a factor in a disease, this will not necessarily help to decide who is
at ‘high risk’ or whether taking medicines will do more harm than good. Lifestyle advice
linked with genetic tests also needs strict regulation to stop people being misled. Medical
tests are currently not scrutinised by the MHRA but by ‘notified bodies’ such as private
laboratories. If the HGC’s proposal is to work, the MHRA will need to set up a new
body to assess each claim. This body must be independent - commercial ‘conflicts
of interest’ must be avoided.
Q5. Will the MHRA be able to include broader ethical issues in its assessment and
make informed judgements about when tests should be available?
Deciding under what conditions genetic ‘prediction and prevention’ should be available
will involve many different factors and science alone will not provide a simple yes or no.
Opinions will differ on when some preventive measures should be used – how serious is
the predicted illness and how likely is it that the person will actually develop it? Without
careful controls, many people could end up taking medicines for illnesses they never get
(‘pills for the healthy ill’) and the underlying causes of our health problems (such as the
rise in obesity in children) might be ignored. The new body will need a wide remit, broad membership and new ways of working to consider properly all the issues
and alternative approaches.
Q6. Will the MHRA’s assessments be open, transparent and accountable?
Public consultation and involvement mechanisms will be needed to reach robust
decisions on controversial issues. There must be mechanisms to check that regulation is
effective and to deal with new evidence and complaints. Decisions on medicine safety
have sometimes been controversial because data has been kept ‘commercially
confidential’. The MHRA will need to be much more open and transparent in its
assessments of genetic tests and make its data and its reasoning publicly available.
Q7. Will there be public education about the limitations of genetic tests?
Genes are poor predictors of most common illnesses in the majority of people - factors
such as smoking, diets, exercise, pollution and infections are usually much more
important. The HGC should recommend a public education programme on the
limitations of genetic tests.
Q8. Will the broader issues (such as privacy and discrimination) also be
Concerns about genetic discrimination by insurers or employers, or the misuse of genetic
databases, apply to all genetic samples and genetic test results. New laws are also
needed to ban genetic discrimination and ensure genetic privacy.
Q9. Will the Government accept the need for regulation?
Last year, the HGC stated that ministers would view legislation on genetic testing as a
‘last resort’. It is critical that ministers accept the need to regulate genetic testing,
including the need to develop legislation to give the MHRA the necessary powers.
Q10. What are the implications of not addressing these concerns?
The current lack of controls on the marketing of genetic tests risks a serious loss of public
trust. This could be damaging to the biotech industry, investors and the NHS as well as to
public health. Without regulation, the health benefits of appropriate genetic testing
could be jeopardised by the misleading claims of some commercial companies.
What are genetic tests?
Genetic testing services require customers to provide a sample of their DNA (usually
using a simple mouth swab) which is then sent to a laboratory. The laboratory will look for
rare mutations or common variations in the person’s genetic make-up. Customers may then receive any or all of the following:
? predictions about their, or their children’s, risk of future illness; ? health advice about their lifestyle or which vitamin supplements or medicines to take;
? products that are claimed to be tailored to their individual genetic make-up.
What might happen in the future?
The former head of GlaxoSmithKline, Sir Richard Sykes, has predicted that within 20
years most people in developed countries will receive ‘pre-symptomatic treatment’ while they are still healthy, massively expanding the market for genetic testing and ‘preventive’ 7medication. In the UK, Sykes advocates the increasing sale of medicines outside the
NHS. The main concern is that most genetic health predictions will be poor, so people
could easily be misled about their health. Many people might take unnecessary
medication (‘pills for the healthy ill’) or be falsely reassured that measures are not needed 8to tackle unhealthy lifestyles or environments.
There are also many other issues that need to be addressed, including:
? the possibility of genetic discrimination leading to a ‘genetic underclass’ – people
excluded from insurance or employment or perhaps from being born at all;
? the possible use of DNA samples and genetic information for research that people
may disagree with, or the patenting of people’s genes without their knowledge; ? future access to genetic samples and test results by the police or Government;
? the ease with which it is possible to test someone without their knowledge or consent
by stealing a sample of their DNA. The HGC has rightly recommended that this is
made a criminal offence, but ministers have so far not responded to the HGC’s
1 Vines, G (2002) I See a Long Life and a Healthy One… New Scientist, 23 November, 2002. 2 Barnett, A (2003) New Gene ‘Horoscope’ Predicts Our Life and Death. The Observer, 19 January, 2003.
3 Meek, J (2002) Public ‘Misled by Gene Test Hype’. The Guardian, 12 March, 2002. 4 Cookson, C (2002) Company to Stop Direct Selling of Genetic Tests. The Financial Times, 9 July, 2002.
5 Marketing of Cancer Test Exploits Fears, Critics Say. Denver Post, 30 August 2002. 6 Pearson, H (2002) At-Home DNA Tests Are Here, But Doctors Aren’t Celebrating. The Wall Street Journal, 25 June, 2002.
7 Sykes, R (2000) New Medicines, the Practice of Medicine and Public Policy. A Nuffield Trust
Publication, The Stationery Office, London.
8 Baird, P (2001) The Human Genome Project, Genetics and Health. Community Genetics, 4, 77-80.