Human Genetics Alert Response to:'Working document on the application of genetics for health purposes of the CDBI Working Party on Human Genetics' (CDBI-CO-GT4)

1.Introduction

Human Genetics Alert is a UK-based Non-Governmental Organisation, funded by a leading British charity. HGA is a secular organisation which supports women's right to choose to terminate pregnancy under some circumstances. As far as we are aware, HGA is the only European NGO focused solely on human genetics issues. We would be grateful for the opportunity to meet the Working Party to discuss the draft protocol.

2.General comments on the working document

Whilst the working document has many useful provisions, we feel that it suffers from an overly narrow approach to the issues, based on conventional bio/medical ethics. This approach fails to take account of important social and public policy concerns. Amongst these concerns is the prospect of a resurgent eugenics and the impact this may have upon the rights of disabled people. In the European Year of Disabled People, and given the increasing number of statements by international and national representative organisations of disabled people, it is surprising that there is no reference to these concerns. Other international statements, such as the EU Charter of Fundamental Rights have made explicit reference to the prohibition of eugenic practices.

We will, in our comments referring to particular articles, illustrate ways in which an anti-eugenic perspective, which we are sure that the Working Party shares, may be incorporated into the draft protocol. At this stage we will make two points with reference to this. Firstly, article 4, non-discrimination, while useful, does not suffice to rule out eugenic practices. Such practices cannot always be described as specific acts of discrimination against particular people. An example is 'positive eugenics', the encouragement of the birth of so-called 'superior individuals'. While being extremely damaging to society, such practices do not discriminate directly against any individual. Secondly, the exclusion of applications relating to the human embryo and foetus from the scope of the protocol does not mean that the issue of eugenics is not still highly relevant to this protocol. In fact, several articles of the draft protocol make reference to the use of tests to inform procreative decision-making.  A general concern is that a climate may develop in which adults feel obliged to obtain a 'genetic health profile' and that this may be used to inform their and others' reproductive decisions. Adults may feel that they should not have children, since it is their responsibility to society not to pass on what are perceived as 'bad genes'. We propose that the draft protocol should incorporate the following draft text:

Article 4 paragraph 2

'Parties shall take all necessary measures to ensure that eugenic practices are prohibited.'

There are other important social policy concerns which do not find adequate expression in the document. Amongst these is the need to avoid inappropriate medicalisation and overemphasis on genetic causes of disease. In general, there is a need for independent assessment of genetic tests before they are introduced into clinical practice, which takes into account the technical validity of the test, its clinical validity and usefulness as well as ethical and social implications[i]^,[ii]

It is crucial that this is mentioned explicitly in the draft protocol. HGA favours statutory regulation of genetic testing in order to achieve such as assessment and to ensure that inappropriate genetic tests are not introduced.

It has been suggested that one task of this protocol was to clarify the provisions of the Convention with regard to the use of genetic tests in insurance and employment. However, there are no detailed provisions in the protocol on this subject, which is disappointing.  The inclusion of employment and insurance within the scope of the protocol suggests that the use of genetic tests for this purpose is acceptable, so long as it is done within the conditions laid down in the protocol.  In our view this is directly contrary to the meaning of the Convention, which restricts genetic testing to clinical and research purposes.  We suggest that the words 'as well as in the fields of employment and insurance' be deleted from the article 2.

3.Comments on specific articles

3.1 Article 3

HGA understands that Article 3 is a standard formulation designed to protect the human rights of research subjects and to prevent state-eugenic practices. We support these aims. However, there is a need to counter the possibility of a free market- or consumer-driven eugenics, which is a much more likely prospect in this historical period. The supporters of such a new eugenics often argue that individual autonomy must trump all other principles and interests, and they justify this by reference to articles in international conventions which mention 'the primacy of the human being'.

It is therefore time for a more sophisticated approach, which acknowledges the need for the state to act to restrain abuses that can result from the wholesale application of free market principles in human genetics. We therefore propose the following amendment to article 3:

'.sole interest of society or science, taking into account the interests of society to avoid eugenic practices.'

3.2 Article 6

(a)  In paragraph I it is important to emphasise that information shall be given by a person qualified in genetic counselling, or at least by a medically qualified person. There are two reasons for inserting this stipulation. Firstly, the interpretation of genetic information is complex and requires adequate training. Secondly, as noted in paragraph 3, this information should be given in a non-directive manner, according to the ethic of genetic counselling. This ethic is distinctly different from that of most medical consultations; it requires considerable training to be able to counsel patients in a truly non-directive manner.

(b) In addition to the points listed, the person should be informed about arrangements for protecting the security and confidentiality of personal genetic information. They should also be informed about the possibility (depending on the precise state of legislation in the jurisdiction) that certain genetic tests may affect their ability to obtain insurance or employment. It is also important that the information about the condition should include information from people affected by the conditions, not just medical descriptions. Disabled people have often argued that doctors present biased and overly negative views of genetic conditions.

Where a sample taken in clinical practice may be used for research individuals should be informed about the future ownership of the sample and their rights, or lack thereof, to specify the uses to which the sample will be put.

3.3 Subsection B

There is a need for an article concerning the purposes of genetic services. The article should specify that the purpose of such services should not be aimed at eliminating or reducing the frequency of births of disabled people, and that programmes of testing and screening for particular diseases should not be justified by the calculations of the cost of treatment of future generations of disabled people versus the cost of screening.  Such aims conflict with the aim of non-directive counselling.

3.4 Article 9

In addition to the assessment of quality and validity of genetic tests, it is vital that there is an assessment of their ethical and social implications before such test are used in clinical practice. If this does not happen, there is little point in all the academic research and public debate about human genetics which is taking place and, as with genetically modified organisms, it is likely that there will be a public backlash caused by the inadequacy of the regulatory system to deal with public concerns.

3.5 Article 11 

Genetic counselling should be given by qualified personnel (see section 3.2 a) and should be non-directive (this is not currently specified in the text).

3.6 Article 13

There is need for elaboration of more detailed rules, concerning ownership or samples and access by commercial entities, and consent by the donor to such uses.  This is true whether the sample is collected during research or clinical practice.

3.7 Article 18

Human Genetics Alert would prefer option A, or at least option C. option B, non-regulation, is not acceptable and can lead to severe harm to individuals and society, and to the reputation of human genetics.

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:

Genetic testing has many consequences for both individuals 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 marketing of genetic tests for cosmetic and 'enhancement' purposes. 

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 public 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.

3.8 Article 21

Screening programmes are amongst the most ethically problematic applications of genetics[x].  It is therefore vital that, in addition to the standard medical criteria included, potential screening programmes are assessed for their ethical and social implications. This must include an analysis of the potential impact on the rights of disabled people, as well as the potential for medicalisation of healthy people and creation of anxiety. Public health measures targeted at ameliorating the environmental causes of the disease in question should also be considered as alternative uses of the available funds.

As noted by the European Society of Human Genetics[xi], screening programmes should not include multiple genetic tests, since this is likely to render informed consent impracticable, and violates individuals' right not to know.

A further criteria for screening programmes' establishment is that there are sufficient resources available for provision of adequate counselling in order to guarantee informed consent. This is a notorious problem with existing screening programmes, especially pre-natal screening.

3.8 Article 25

As noted above because of the many possible ethical and social implications of human genetics research, it is vital that it is subject to assessment of these implications, through transparent, democratic mechanisms. While the function of the protocol is to set certain ethical ground rules, it cannot attempt to deal with every case, or to take into account economic and social policy considerations which may drive or constrain particular aspects of genetic research in different jurisdictions. The test as it stands implies that all genetic research carried out according to the ground rules laid down by the protocol should be carried out 'freely' without any further democratic scrutiny. We therefore propose the following amendment:

'Genetic research linked to health purposes shall be carried out subject to the necessary democratic assessment, and to the provisions of this Protocol.'

There is a need for elaboration of detailed ethical rules concerning genetic testing in research, which differ from those concerning genetic testing in clinical practice (for example, with regard to feedback of results). The protocol articles 26-31 contain a set of such rules relating to one type of research (somatic gene therapy); it is not clear to us why the working party has neglected to supply draft text with a similar degree of detail for other types of genetic research.

3.9 Article 31

 HGA objects to the suggestion that the acceptability of risk should be proportionate to the benefit to the subject. This would imply that a greater risk is justified where a particular therapy is more effective. In conventional medical ethics, the acceptability of risk is proportionate to the clinical need, ie: how serious the patient's condition is. Where a patient is dying, greater risk may be more acceptable. However, if the patient's condition is not serious, a high risk is not necessarily acceptable even though the benefit may be large. Human Genetics Alert April 30^th 2003

[i] Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT 2000 Secretary's Advisory Committee on Genetic Testing.[ii] Burke, W. et al 2002 American Journal of Epidemiology 156 311-318.[iii]  Giardiello, F.M. et al 1997 New England Journal of Medicine 336 823-827.[iv]  McGovern, M. et al 1999 Journal of the American Medical Association 287 835-840.[v]  Relkin, N. et al 1996 Annals of the New York Academy of Sciences 802 149-171.

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

[vii] Chandros Hull S. and Prasad K. 2001 Hastings Centre Report 31 33-35.[viii] Saltus R. 2000 Knight-Ridder/ Tribune Business and Market News March 27 2000

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