Consultation Response to Human Genetics Commission Consultation on  Marketing Genetic Tests

Submission by Dr. David King  - Human Genetics Alert

9th October 2002




HGA's primary concern about the direct marketing of genetic tests is the harm that may be caused to both individuals and society if market forces are allowed to control the availability of genetic tests.  In the USA, where genetic tests are currently not regulated we have already seen:


  • Testing without requirements for counselling or consent
  • The marketing of tests whose predictive value and medical utility is uncertain.
  • Manipulative advertising
  • Testing that abuses children's rights
  • Widespread availability of unethical tests, such as prenatal sex selection

Genetic testing has many consequences for both individusl and society and its regulation must not be treated simply as a narrow consumer protection issue in isolation from the broader concerns raised by genetics.  In addition to the well-known individual harms that may arise from unregulated genetic testing there are a range of social harms that may also occur, including the encouragement of a free-market eugenics, harm to public health and the market ingof genetic tests for cosmetic and 'enhancement' purposes.  We would argue that there are intrinsic features of genetic information which make it especially sensitive both for individuals and society. 


We reject the idea that there is any absolute right to discover genetic information about oneself.  Because of the many consequences of genetic testing for both individuals and society, individuals' wishes to discover information must be balanced against other values and interests, including that of society at large.


We believe that it is highly premature to conclude that there are any genetic tests that do not require counselling.  Genetic testing should take place in the context of medical practice and should always be accompanied by counselling.


HGA therefore calls for a ban on over-the-counter genetic testing, backed by legislation. Genetic testing in the NHS and private medical practice should be regulated by an authority with legal powers. Any less strict options are, in our view, inadequate.  Such regulation must consider the social and ethical impact of each test, not just aspects such as clinical validity and utility.


1. Introduction


Human Genetics Alert (HGA) is an independent watchdog on human genetic issues. Our aim is to prevent harm to individuals and society arising from inappropriate genetic research and its application. We seek to encourage informed critical public debate.


2. Why regulate genetic testing?


HGA's primary concern about the direct marketing of genetic tests is the harm that may be caused to both individuals and society if market forces are allowed to control the availability of genetic tests.  We would emphasise that this is not merely speculation.  In the USA, where genetic tests are currently not regulated we have already seen:


  • Testing without requirements for counselling or consent[i],[ii].
  • The marketing of tests whose predictive value and medical utility is uncertain[iii],[iv].
  • Manipulative advertising[v]
  • Testing that abuses children's rights[vi]
  • Widespread availability of unethical tests, such as prenatal sex selection[vii]

HGA therefore believes that it is imperative to regulate genetic testing, which should always be done in the context of medical practice.  It is crucial that regulation encompasses genetic testing as a practice, not merely genetic tests. Genetic tests may be offered in different contexts. The consequences that flow from them, both for individuals and for society, will depend on the context. A test that has relatively few consequences in one context may be full of serious consequences in another context. An obvious example is prenatal and pre-implantation genetic testing, which is why the direct marketing of tests in the context former is prohibited by the existing code, and in the latter case is regulated by the HFEA.


It is a mistake to deal with genetic testing and regulation in isolation from the broad scientific and social processes of which it is part, and from the consequences of those processes. Although research and the application of genetics has much potential for good it may also lead to significant harms to individuals and society. Thus there is need for a general process of democratic supervision of genetic research and its applications are rolled out. Therefore, the regulation of genetic testing must not be treated as a narrow matter of consumer protection, and in isolation from the broader concerns raised by genetics.


In considering the scenario of marketing genetic tests by commercial companies, it is possible to identify the following harms:


Individual harms


1. Individuals may spend considerable sums of money on inappropriate and/or irrelevant tests, due to misleading marketing. Given the low level of public understanding of genetics and the prevailing climate of hype surrounding the subject, this seems very likely.


2. In the absence of counselling from trained genetic counsellors, individuals may be misled about their genetic constitution. This may lead to their taking sometimes-irreversible bad decisions which may have profound effects on their lives and those of their families. This may include reproductive decisions (see 'social harms' section).


3. Even when trained consulting is available, individuals may suffer psychological harm.


4. A potential consequence of taking genetic tests is discrimination by insurers, employers and others.


5. Genetic testing opens up the possibility of a variety of family problems. People may be stigmatised within their families and feel guilt for "creating" a problem for the whole family where none was perceived before. These and other possibilities may exacerbate existing rifts within families.


6. Genetic test results may also raise the explosive issue of non-paternity.


Survey evidence[viii],[ix] indicates that people are, when the possibility is presented in a theoretical way, very interested in genetic testing. However, the actual uptake of genetic testing is currently low, which suggests that when people start to look into the question in detail and inform themselves about the possible risks, they become much less enthusiastic. This reinforces the need for pre-test genetic counselling.


It is useful to compare drug prescription with genetic testing.  Many drugs are only available on prescription for two main reasons: medical expertise is needed to advise on choice and dosage of drug; and the drugs are capable of harming the patient.  Clearly, there is just as great need for trained medical advice in choosing and interpreting genetic test results as in choosing drugs.  Although drugs can cause physical harm to patients, this is generally minor and short term: the patient feels ill, stops taking the drug and reports the problem to the doctor.  With genetic test results, the consequences, whilst not physical may be more severe, since the misinterpretation and the consequent decisions may have effects that last the lifetime of the patient and her family, and even reach down the generations.


Social Harms


1. Free-Market Eugenics


The most important social harm likely to result from non-regulation of genetic testing is the facilitation and encouragement of a free-market eugenics, driven by aggressive marketing and a variety of social trends. This free-market eugenics is seen by many commentators as the major concern raised by the genetics revolution. There is a tendency to assume that the genetic testing of adults outside of the direct reproductive context does not have implications for reproductive choices. This is the reason that the existing code permits carrier testing of adults for autosomal recessive conditions. However the assumption is clearly false - in fact, adult testing may be a major driver of eugenic social trends in a number of different ways.


Firstly, one way in which adult genetic testing is almost certain to connect with eugenic forces is in sperm and egg donation. A free-market eugenics already exists in this field, with sperm banks and internet sites offering gametes from 'superior' individuals at high prices[x]. It is very likely that, in the near future, competition will drive such gamete providers to demand genetic tests from donors in order to provide clients with gametes with a 'clean bill of genetic health'.


More importantly, as demonstrated most obviously and clearly by cystic fibrosis carrier testing, such tests with no medical consequences for the individual are taken precisely for the purposes of reproductive decision-making. In the future, if genetic susceptibility tests for a variety of rare and common conditions are marketed, it is likely that these will be taken into account in reproductive decisions. In fact, it is extremely implausible that they will be seen as purely relevant to the individual's own future health and not to their reproduction. This is the nature of genetics, and is one feature that distinguishes genetic tests from, for example, PSA tests.  It is possible, and is indeed often confidently predicted by scientists, that we will see the development of chips designed to test multiple diseases, giving consumers an overall 'genetic health check'.


Thus, it is quite possible that a climate will develop in which it is seen as irresponsible for people of reproductive age not to have genetic tests. Indeed, existing experience with programmes of adult testing for single-gene disorder carrier status suggests that social policies can be highly coercive. In both the thalassemia testing programme in Cyprus and the Tay Sachs program in ultra-orthodox Jewish communities, testing is essentially mandatory. Although it seems unlikely that such strong coercion would become the norm, aggressive test marketing could produce significant eugenic pressure. It should be remembered that when tests are taken in the reproductive context there is a significant restraining factor: the idea of reproductive autonomy and the woman's right to choose.  When tests are taken outside of the reproductive context, in early adulthood, this factor is not present and ideas about a person's 'duty to the welfare of their child' and to the community as a whole have correspondingly greater effect.


We may see campaigns for adult carrier testing to 'eliminate genetic disorders from the genepool' even for less serious or adult-onset disorders.  With complex diseases, elimination is impossible, yet if important suscepitibility genes are identified, similar pressures are likely to operate, in the name of social and family responsibility.


Such adult tests could also affect people's marriageability. For example, a man carrying a genetic variant likely to lead to heart disease in his 40s might find it increasingly difficult to find a partner.


2. Harm to public health


Promotion of over the counter testing may damage public health and the NHS in a number of ways. Firstly it may create a large number of 'worried well' people, who may unnecessarily increase demands upon limited NHS resources. These people may become vulnerable to aggressive marketing of 'preventative medicine', which may create dependency on drugs, and prove impossibly expensive for the NHS[xi].  Such drugs may themselves have serious side-effects. The use of advertising to increase drug markets is not merely speculation but an established strategy employed by the pharmaceutical industry[xii],[xiii],[xiv].


A further problem with the direct marketing of susceptibility tests is that those 'given the all clear' by genetic testing may feel they can ignore general healthy living advice, creating greater health problems later.


3. Cosmetic/'enhancement' tests


The marketing of genetic tests to predict non-pathological and/or cosmetic characteristics may have social and personal consequences which are just as severe as those created by tests for serious disease. One way in which this might happen is the genetic testing of children for example to determine their likely future height, or for girls, breast size. This may lead to surgical or hormonal interventions, such as the use of growth hormone, the over promotion of which to short children is already a problem. It is also possible that genetic tests will be used to target preventative behavioural and pharmaceutical interventions, for example to prevent anti-social behaviour[xv].  Such approaches risk stigmatising large numbers of boys and precipitating the very problems they intend to solve. While such interventions on children are obviously unethical, in the absence of regulation, this may not stop competitive parents.


For adults, the marketing of genetic tests for example to promote longevity and how a person may age (baldness, cellulite, wrinkles) is also likely to be encouraged by the cosmetics and cosmetic surgery industry as a means of increasing their markets. This is not merely distasteful but highly damaging to individuals who may undergo unnecessary surgery and suffer psychological harm.  In HGA's view such cosmetic uses of genetic testing would be extremely harmful to society and should not be permitted.


A recent example of the potentially socially damaging effects of the marketing of non-medical genetic tests is the launch, by a US company of an unvalidated 'recreational' test which claims to measure the degree of racial mixture in a person's ancestry[xvi].  The company says the results may also be used to 'validate your eligibility for race based college admissions or government entitlements.'  Apart from the damage that may be done to families by unexpected but unverifiable revelations, the marketing perpetuates ideas of race based on genetics.


What is clear is the falsity of the assumption in the consultation paper, that it is only genetic tests for serious diseases that are a potential problem, requiring counselling and regulation. This assumption would tend to leave many socially damaging tests entirely unregulated.  In fact, there is in general greater public concern about the use of genetic technologies for cosmetic and 'enhancement' purposes than for medical purposes. This is part of the reason that the Council of Europe Convention on Human Rights and Biomedicine stipulates that genetic testing shall only be performed for medical purposes.


4. Encouragement of genetic determinism


The proliferation of genetic tests is likely to encourage the public perception that genes determine our health, behaviour and prospects in life.  There is a need to counter such simplistic views of genetics through public education.  However, there is a limit to what can be achieved by education if many different genetic tests of dubious value are being marketed.


In summary, these social harms must be treated very seriously.  Failing to regulate genetic testing is likely to lead to rampant commercialism, intended to create new and unreal  'needs'.  In the USA, the outcome of non-regulation is already apparent in the widespread availability of prenatal sex selection and other abuses.  The consequences of genetic testing go far beyond the immediate consequences of the test itself for that individual.  The regulation of genetic testing is a crucial element in the overall social management of the introduction of genetic medicine, and to abandon its use would be to essentially abandon any attempt to moderate the many harmful individual and social consequences that would arise from commercially driven genetic testing.  The remit of the HGC is to take a broad and holistic overview of issues raised by human genetics and to make connections between those issues.  We hope that the HGC will not view the regulation of genetic testing as a narrow issue of consumer protection.


In HGA's view there is no case for allowing the direct marketing of genetic tests to consumers. We therefore advocate a ban on this practice. Given the potential social and individual harms that may be caused by genetic testing, there is a need for regulation of genetic testing which is carried out within the NHS or private medical practice.

Such regulation must consider the social and ethical impact of each test, not just aspects such as clinical validity and utility. The need for social and ethical factors to be taken into account has been emphasised by many commentators, including the US Secretary's Advisory Group on Genetic Testing (ref 4) and a recent consensus statement from US experts[xvii].


3. Answers to specific questions


Q1.  What role, if any, do you envisage for professional bodies in the regulation of genetic testing services supplied direct to the public?


As noted above HGA opposes the direct marketing of genetic tests to consumers. If genetic tests are approved by a statutory regulator there will be a need for guidelines for the use of each test, specifying in which populations and under which circumstances such tests should be offered. The professional bodies will no doubt be involved in drafting such guidelines.


Q2: What aspects of the existing controls on advertising would you wish to draw to our attention in conducting this review? In what way, if any, should adverts for direct genetic testing services be treated differently?


HGA believes that, like prescription medicines, genetic tests should not be advertised direct to consumers. There is already evidence that the advertising of such drugs in the USA has distorted the market and led to an increase in spending (refs 12-14). There is also evidence that companies marketing genetic tests both market in an exploitative fashion and provide misleading statements to consumers about the conditions being tested for. In one instance (ref 4; the advert is attached to this submission) a company advertised BRCA1 and BRCA2 testing in the programme for a play dealing with a woman dying of ovarian cancer. This was no doubt intended to exploit the emotional vulnerability of the audience. The advertisement invited women to contact the company directly rather than via physicians and contained incorrect and incomplete information. The current direct-to-consumer advertising campaign launched by Myriad Genetics has also been criticised for playing on women's fears[xviii].


Research has also shown that advertising can be misleading in more subtle ways.  Brochures produced by companies marketing cystic fibrosis tests differed from hospital or university pamphlets in that they 'minimise positive descriptions of CF'[xix] or did not contain adequate information[xx].


These examples from what is currently a small market foreshadow what is likely to occur if advertising of genetic tests is permitted. HGA favours the extension of the current ban on pharmaceutical advertising to advertising of genetic tests.


Q3: What other national controls or international instruments should we be considering during this review?


Q4: Do you have any comments or suggestions about the possible control on genetic testing services accessed via the internet?


The possibility that people will be able to access inappropriate genetic testing services via the internet is a major concern. Clearly, an international approach is needed to deal with this problem. From the point of view of the UK, it seems clear that the major threat comes from the companies/laboratories in Europe and possibly the USA. It seems unlikely that people will trust the scientific competence of companies outside those countries and there will be very little possibility for redress if something goes wrong (eg: misdiagnosis, breach of privacy). HGA has called for new EU legislation to regulate genetic testing in order to prevent inconsistency between different EU countries. The UK should promote this idea at EU level. We accept that it might not be possible to completely control access to genetic tests via the internet. However, this must not be seen as an excuse for failing to regulate in the UK and the EU.


Q5: Should any controls or regulations be confined to tests carried out on the genetic material itself, or should they encompass tests on other aspects of body chemistry that might be directly determined by information stored in the genetic material?


When considering tests that are not DNA tests for 100% penetrance disorders there are two key and independent dimensions (i) how directly does the DNA variation influence the parameter measured and (ii) to what extent is the disease/disorder being tested for under genetic control.


When the penetrance is 100%, tests on protein sequences and enzyme activity are simply reflections of the DNA sequence, and should be seen as genetic tests.


If the disease is complex, eg: heart disease; DNA, protein sequences and enzyme activity designed to determine the genetic variation are genetic tests.


For 100% penetrance disorders, it is unlikely that tests which measure the level of body substances will give good predictions of the variations at the DNA level, Rather, these tests are most likely to act as preliminary steps which may alert the person of the need to visit their doctor, who will then confirm the test results and refer the person for a DNA test. Such preliminary tests may be acceptable for sale over-the-counter, as long as they do not give clear predictions and firm evidence of a particular genetic test result. For example, if there were a body substance test that could predict whether a person will develop Huntington's Disease, this should not be sold over-the-counter, for the reasons outlined in section 2. In the case of preliminary body substance tests, the taking of such a test is part of a process leading to genetic testing and, as such, should be regulated. In some cases, the regulator may decide that no harm will come from the over-the-counter sale of such tests.


Q6: What are your views on which genetic testing services can be considered, now or in the future, to be defined as "direct to the public"?


HGA believes that all genetic testing should be subject to regulation, including that offered through the NHS and private medical practice.


Q7: What are the likely developments in the genetic knowledge and technology that might impact on the number and type of genetic tests offered direct to the public?


This question is incomplete: the number and type of genetic tests offered to the public will depend to a considerable degree on market forces and social trends.


It is difficult to predict the likely success of efforts to identify susceptibility genes for common diseases; there are conflicting views in the scientific community and much confusion on this point. At present, there are many conflicting scientific findings, and failures to replicate gene-disease associations. However, this is not surprising, for the following simple reason: the studies measure associations between genes and diseases such as diabetes which are, in fact, a composite of many different sub-types of disease which share similar symptoms. The promise of genomics, proteomics, and other molecular biological research is to dissect the different sub-types and elucidate the molecular pathways which lead to symptoms. Within each sub-type there will probably be only a few different key proteins, genetic variations which affect disease susceptibility, and it is very possible that genetic testing that will be able to provide good predictions of disease susceptibility.


Some companies are already marketing genetic susceptibility tests and there is very substantial investment taking place. Without regulation, tests of dubious scientific and medical value will no doubt continue to be offered.


While there are scientific problems concerned with the validity and utility of genetic test results, it is unlikely that technological barriers to the offering of cheap tests, involving multiple genes, will remain in place for long. A company has recently announced, for example, the development of a prototype 'black box' for 30 minute testing in pharmacies[xxi].


Q8: What distinction, if any, should be made between genetic tests and other medical or health-related tests which might be offered direct to the public?


Q9: If testing for non-genetic conditions is available direct to the public with few restrictions, then is there a case for restricting the availability of testing for genetic conditions?


Q10: What distinction, if any, should be made between genetic tests intended for:

- predictive health purposes;

- diagnostic purposes;

- life-style or other purposes which have a limited impact on someone's life?


HGA disputes the committee's reasoning in paragraph 42 and its conclusion that there is nothing special about genetic information that distinguishes it from other medical information. This was not, in fact, the conclusion of the Inside Information consultation. We would argue that there are intrinsic features of genetic information which make it especially sensitive both for individuals and society. Although some of these features are shared to a small degree by some other examples of medical information, it is a fallacy to assume therefore that genetic information has no special significance. It is the combination of these features, like the combination of qualities of any object or idea that distinguishes it from other objects or ideas.


As we noted in our response to the Inside Information consultation the features of genetic information which distinguish it from other medical information are:


1.  Notwithstanding the incorrectness of popular overblown accounts of genetics, it is impossible to deny that the molecular genetics revolution of the last 20 years has given us access to a whole new level of biology. Although genes are not the 'blueprint' of an individual, there is an important sense in which genetic information is more intimate and fundamental information about a person than what their parents died of, or their cholesterol level. Genetic information defines something more enduring and constitutive about a person than whether they have high blood pressure or have contracted cancer. Whereas the latter may fluctuate during a person's life, and are seen as semi-random events that may or may not occur to a person, a person's genes are fixed at conception and remain constant. To whatever extent genes determine the person's characteristics, they are enduring and constitutive facts about that person. Amongst the characteristics where the influence of genes is strong are many of the external facets that a person presents to the world, and through which we recognise them throughout their life: sex, facial features, body shape, skin and hair colouring. It is not simply ignorant genetic determinism that leads people to view genetic facts about a person in a different light to whether they have had the bad luck to have had a heart attack.


Because of these features of genetic information, it is likely to have a greater role in defining the results of medical tests and is likely to have a greater role in defining their self-identity than a cholesterol-level test. The former is far more likely to make a person feel like there is something intrinsically wrong with them, that they can do nothing about, than the results of medical tests. Thus genetic test results may have much more psychologically damaging consequences than other medical test results.


2. Genetic information is hereditary information, unlike almost any other medical information. Thus information about a person's genes will often immediately raise very sensitive issues about reproductive choices. Issues of equal sensitivity arise about the person's own parentage.  Genetic information is also about families much more strongly than most other medical information, and thereby raises issues which are not raised by most other medical information.


3. Most importantly, the social meaning of genetic information is very different to that of most medical information. Primarily because genes define crucial and enduring aspects of a person, and because they are passed on to offspring, perceived and real genetic differences continue to attract discrimination and oppression. A fully-fledged theory of social development (eugenics) is based on the importance of genetic differences. It is ridiculous to imagine anything comparable based on cholesterol test results.


The greater intrinsic personal and social sensitivity of genetic information means that there is a strong case for regulating access to genetic tests.  As we have discussed in section 2 this point applies to all tests, not merely tests to detect serious disease.


Q11: If people are interested in finding out personal information about themselves, then should they be entitled to obtain such information in whatever way they wish?


In HGA's view the suggestion that there might be some 'right' to personal genetic information is biased and misleading. A 'right' is the strongest type of claim, one which other considerations cannot outweigh. To establish a 'right' therefore requires extremely strong, clear-cut argument and strong social consensus. In our view, while there are some arguments in favour of allowing people to find out genetic information about themselves these are in no way sufficiently strong, nor do they command anything like the social consensus necessary to attain the status of a 'right'.


The notion that there exists a right to discover genetic information about oneself appears to rely on an elevation of one ethical value - autonomy - above all others. However, there are other ethical values which healthcare providers and the state must take into account: doing good, doing no harm, justice and the interest of others. In considering whether an action is ethical we must consider the consequences that are likely to flow from it. As we have discussed in section 2, genetic testing has the possibility to (a) do no good (b) do harm (c) result in injustice, and (d) harm the interests of others and of society at large. In our view it would be irresponsible and unethical in the extreme to ignore these possibilities by elevating the value of autonomy to the status of a right. Rather, these competing values must be negotiated on a case-by-case basis, depending on the genetic test concerned, who is to be tested and in what context.  If we do decide that there is a 'right' to have access to all genetic tests, we are deciding to abandon the possibility of regulation, and leaving the development of genetic testing to market forces. The consequences of such a position are, as has been noted, already extremely negative: marketing of unethical tests (eg: pre-natal sex selection), without counselling, through exploitative and misleading advertising, and the abuse of children's rights.


The idea that there might be a 'right' to find out personal genetic information seems to stem from a confusion created by the use of the word 'access'. It is agreed that where medical or genetic tests have been taken, the person has a right of access to their medical records to discover this information. This is very different from some putative 'right' to discover personal genetic information where that information does not already exist. The act of discovering such information has multiple personal and social consequences, as outlined in section 2, which make the discovery of personal genetic information a matter of social policy.


Q12: Should direct genetic testing services be limited to adults capable of making informed consent?


Genetic testing should not be marketed directly to either adults or children. The regulation of genetic testing, in the context of the NHS or private medical practice, must include measures to prevent the testing being offered to children where it may cause them harm and offer them little medical benefit. As the Clinical Genetics Society guidelines stipulate, genetic tests should only be given to children where they have some clinical utility, ie: where some treatment or preventive measures are available. We are particularly concerned that by reports that some private adoption agencies in the US are requiring children to be tested because of demands from adoptive parents (ref 4). In our view, this form of market-driven genetic discrimination is a completely unacceptable abuse of children's rights and cannot be permitted.


Q15: Do you consider that there should be some independent process to review the accuracy and reliability of some or all types of genetic tests that are available direct to the public? If so, how might this be achieved?


It is, of course, necessary that tests of any type satisfy the necessary standards of accuracy and reliability, as should the laboratories performing them. It is standard practice for this to be achieved by independent external scrutiny.


We are extremely surprised, especially in the light of its recent experience with Sciona Ltd, where this was the main issue, that nowhere in the consultation document is there any mention of the need to regulate tests according to their clinical validity  (ie: whether the test has any power to predict or diagnose clinically important outcomes) or clinical utility (whether the test results leads to any clinically useful intervention). These elements, plus the social and ethical impact of the test, were agreed to be vital elements in the assessment of any genetic test by the recent US experts' consensus statement (ref 17).


Q16: Should the value of any pharmaceutical or life-style intervention that is linked to a genetic test be considered as part of any accreditation process? How would this relate to established mechanisms for professional self-regulation?


As part of the assessment of the public health impact of genetic testing, it is of course vital to consider the possible impact on individuals and the NHS of intervention following on from genetic testing.   


Q17 For which type of tests should access to appropriate pre and post test counselling be a requirement? Who should undertake this?


Counselling should be offered both before and after all types of tests, which should take place in a clinical context. As we have demonstrated in section 2, it is far more than tests for serious diseases which may affect the patient in their lifetime that call for counselling. In fact, this assumption is counter-productive if it permits testing for cosmetic or other non-pathological characteristics.

It has yet to be demonstrated that there are any genetic tests which are sufficiently low-impact to responsibly dispense with counselling (with the exception of blood-group testing). In the Inside Information report the HDC's main candidates for reduced levels of counselling were carrier tests and pharmacogenetic tests. The former are clearly taken for reproductive purposes and may have large social and individual consequences. We believe the current code is incorrect in allowing their over-the-counter sale. As for pharmacogenetic tests, the HGC has noted that it has not yet adequately explored their ethical and social implications. Such tests may have strong individual consequences if the tests also predict disease susceptibility[xxii],[xxiii] or prognosis. HGA believes that it is highly premature to conclude that any genetic tests do not require counselling. We disagree that genetic tests will have fewer implications for the client than other tests or medical procedures for which counselling is not the norm. If this is the case then, clearly, greater levels of information should be given to patients in those cases in order to achieve informed consent. The government has acknowledged that the NHS practice in informed consent does not meet necessary standards. Standards must be raised for all procedures, not lowered for genetics. 


The provision of counselling


We agree with the committee's concern that if a large market for over-the-counter testing develops this may strain NHS resources. We are extremely concerned by the overall tendency evident in some bioethics literature, to argue that counselling is unnecessary. In our view, this argument may be driven by the relative lack of trained counsellors and pressure to introduce tests. In HGA's view, ethics should not be driven by economic pressures, nor scientific and medical enthusiasm. Since adequate counselling is a vital need, tests should not be introduced until there are adequate counselling resources to meet demand. If over-the-counter sale of genetic tests is permitted it is vital that face-to-face counselling is available. Such counselling must be independent of the company marketing tests, in order that there is no suspicion of conflict of interests leading to biased counselling, as it already leads to biased information in information leaflets. The obvious source of such counsellors is the NHS, but the NHS must be compensated for the full cost of providing such counselling by the companies concerned. The companies in turn will no doubt pass on such costs to the consumer, leading to a realistic price for testing. Companies should not be permitted to offer 'no-counselling' options.


Q18 What are your views on the need for more general consumer information or education about the issues raised by direct to the public genetic testing


It is vital that there is more public education about human genetics issues in general. Such education programmes should not, as has often been the case in the past, be designed to facilitate acceptance of new products and services but offer customers unbiased information and a fair sampling of arguments from different quarters, especially including disabled people. Public education programmes must explicitly aim to combat geneticisation, genetic determinism and eugenics.


Questions 19-25


HGA calls for a ban on over-the-counter genetic testing, backed by legislation. Genetic testing in the NHS and private medical practice should be regulated by an authority with legal powers. Any less strict options are, in our view, inadequate.



[i]  Giardiello, F.M. et al 1997 New England Journal of Medicine 336 823-827.

[ii]  McGovern, M. et al 1999 Journal of the American Medical Association 287 835-840.

[iii]  Relkin, N. et al 1996 Annals of the New York Academy of Sciences 802 149-171.

[iv] Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT 2000 Secretary's Advisory Committee on Genetic Testing.

[v] Chandros Hull S. and Prasad K. 2001 Hastings Centre Report 31 33-35.

[vi] Saltus R. 2000 Knight-Ridder/ Tribune Business and Market News March 27 2000

[vii] Sachs, S 2001 New York Times August 15th.

[viii] Andrylowski M.A 1997 Journal of Clinical Oncology 15 2139-2148.

[ix] Tamnor E. et al 1997 American Journal of Medical Genetics 68 43-49.

[x] Calvert, J. and O'Reilly, J. 2002 Sunday Times July 21st.

[xi] Melzer, D and Zimmern, R. 2002 British Medical Journal 324 863-864.

[xii] Hollon M.F. 1999 Journal of the American Medical Association 281 382-384.

[xiii] Petersen, M 2001 New York Times Nov 21

[xiv] Medawar C 2001 Health Matters Winter 200-2001

[xv]  Caspi, A. et al 2002 Science  297 851-854.

[xvi] Wade, N. 2002 New York Times October 1st.

[xvii] Burke, W. et al 2002 American Journal of Epidemiology 156 311-318.

[xviii]  Moreno, J. 2002 'Selling Genetic Tests' ABC 23/09/02

[xix] Loeben, G.L. et al 1998 American Journal of Human Genetics 63 1181-1189.

[xx] Cho, M.K. et al 1999 Appendix 4 in Promoting Safe and Effective Genetic Testing in the United States Baltimore, Johns Hopkins University Press.

[xxi]  Briggs H. 2002 BBC News Online Sept 13th

[xxii]  Nebert, D.W. 1997 American Journal of Human Genetics 60 265-271.

[xxiii] Clapper, M.L. 2000 Current Oncology Reports 2 251-256.

  About us | Join/Contact us | Publications | Issues | Press releases| Links | Home