The Royal Society of Edinburgh (RSE) is pleased to respond to the Human Genetics Commission consultation on Choosing the Future: genetics and reproductive decision making. This response has been compiled by the General Secretary, Professor Andrew Miller and the Policy Officer, Dr Marc Rands, with the assistance of a number of Fellows with considerable experience in this area.
On the whole this was a good piece of work, clearly written and informative. However, issues surrounding the ownership of genetic information and confidentiality, especially as that affects future developments, could have been further explored. For example, the potential development of a programme for the genetic profiling of the whole population has huge implications for confidentiality.
It should also be noted that most features of disease or preference on which reproductive decisions are taken can not be pinned on single genes but on a large number of genes which are not known. Advances in in utero imaging will therefore have a much greater impact in the short to medium term on reproductive decision making than genetic testing/screening.
The specific questions in the consultation paper are now addressed below:
Population screening in pregnancy
Various forms of prenatal screening have now become a routine part of medical practice in the UK today. An increasing number of genetic conditions may be included in screening programmes in the future. How do you feel about these developments?
If the screening is accurately predictive, and individuals can opt out if they wish, then there should be no reason not to do it and could be used to assist in the appropriate allocation of future health and other resources. The issues get more complex when the predictive value starts to drop below certainty and this will place a load on counselling services. For example, information on the increased risk of developing breast cancer may well damage a teenage girl psychologically, when the cancer may never happen, or if it does, for which there may well be adequate treatment in the future. In addition, health economics will be an important factor in deciding which tests are fundable and the National Institute for Clinical Excellence will have a part to play here.
There are also a number of implications about the outcomes of such tests, and safeguards will need to be put in place. For example, life insurance companies and employers may have an interest in the results. The genetic information which some family members have about themselves will also have implications for other family members, and could impost a burden on parents and affect how they nurture and view their child.
We are interested in the extent to which you have confidence in the current provision of prenatal screening and diagnostic services
Screening at this stage could have two functions. The first could simply be identifying the incidence of particular conditions in the (future) population. The second, and the common, function is to inform potential parents of the health status of their future child, with a view to informing their decision whether or not to continue with the pregnancy. Arguably, it is the second form that has predominated, leading to real fears that termination is the expected outcome.
Any extension of genetic screening programmes should ensure that the detection of specific conditions can lead to appropriate foetal or neonatal therapy, or it will increase the pressure on women to choose an unwanted termination, and reduce rather than enhance reproductive freedom and choice.
It has been claimed that prenatal screening and diagnosis presupposes that most women and couples will opt for termination if a genetic disorder is identified, some feel this reflects a wider negative assessment in society of the value of the lives of disabled people and/or people with genetic disorders. Do you agree or disagree with this view?
It should also be noted that there is no evidence that choosing not to carry to term an affected pregnancy actually disvalues those who currently live with the particular condition being screened for, although it is accepted that, particularly for the disability lobby, this is a real fear. However, the logic of this argument implies that it is better to have a child suffering from a particular condition which will cause some degree of suffering (physical or psychological), because that will make those who already exist feel less threatened. The services offered are about individual choices and individual potential life; not a statement about how society deals with the disabled. The remedy to the very real problems experienced by people with disabilities is not to ensure that more disabled people are born, but rather to deconstruct the social conditions which make physical or mental differences a ‘disability’.
There are a number of genetic disorders for which embryos and fetuses can be tested. Should the use of PGD to test and select an embryo be governed by the same principles as the use of prenatal genetic testing (PND)? And to what extent should people have the right to request the testing of an embryo or fetus for particular genetic conditions?
It is surely paradoxical that the law in relation to screening out established pregnancies on the grounds of identified genetic or chromosomal problems is more liberal than that which concerns making such choices before implantation. Admittedly, for many people in vitro fertilisation (IVF) is not an option, and therefore Preimplantation Genetic Diagnosis (PGD) is not available, but sheer weight of numbers does not provide an adequate ethical basis for legal or professional regulation. If it is accepted that the selection of an embryo pre-implantation is less ethically loaded than the termination of an affected pregnancy, then it can be concluded that these two forms of screening are not equivalent and that the former should not be constrained by the same restrictions which apply in the latter.
There are also implications for the future wellbeing of screened babies. For example, if the screening suggests that a female baby might (or might not) develop breast cancer, there needs to be consideration of whether the parents keep this to themselves, or tell the child at a certain age.
Whilst treatment using donor sperm, eggs and embryos is regulated in the UK, there exist companies outside the regulatory framework who can match potential donors with recipients. To what extent should people be able to choose the characteristics of a donor in the hope that they will conceive a child who inherits these characteristics?
In terms of what should be available, it could be argued that the justification for the state to intervene in the private choices of citizens is where it prevents harm to others. Thus, arguably, on this view, there would be no justification for restricting choices on donor characteristics, so long as the choice is conducted within the general principles of respect which have traditionally been said to apply to embryos. Therefore, it would be acceptable to decide which donor gametes to use for the purposes which are important to those making the choice and which cause no harm to others. On this view, there would be no reason to prevent sex selection for social/emotional/family balancing purposes.
Developments in genetics
What, if any, are the potential future developments in this field that give you hope and/or concern? How might your hopes or concerns be addressed most effectively?
In terms of future developments, there are potential societal changes that could result from a greater use of IVF allowing older women to have children. Improvements in the basic understanding of biological process could also lead to treatments for many genetic diseases, and many of these treatments may need to be used during development in utero, which will bring its own set of economic and personal choice challenges.
Genetics is a rapidly changing field, particularly in relation to reproduction. Are there any issues you would like to raise about the framework and organisation of services in light of potential developments over the next decade?
The provision of assisted reproductive technologies is arguably, when the simple intention is to establish a pregnancy, merely one other facet of the routine availability of health services. Although status issues of the human embryo are obviously important, it is time to reconsider whether or not the intrusive requirements of the Human Fertilisation and Embryology Act 1990 are now required. When the legislation was passed, there were possibly good reasons to be cautious. The outcome of these services was unknown; fears were expressed about the children who would be born as a result of the use of these services. Evidence now shows these fears, although legitimate at the time, to have been ill-founded. Arguably, therefore, the need for regulation of the current type is now less obvious.
In addition, this is a rapidly changing area both scientifically and in terms of public experience and perception of the issues and it would be a mistake to be too prescriptive in laying down guidelines. The individual’s free choice should be preserved as far as is compatible with the interests of the child.
In responding to this inquiry the Society would like to draw attention to the following Royal Society of Edinburgh responses which are of relevance to this subject: Consent and the Law (December 1997); Cloning Issues in Reproduction, Science and Medicine (April 1998); Review of the Common Law Provisions Relating to the Removal of Gametes and of the Consent Provisions in the Human Fertilisation and Embryology Act 1990 (April 1999); Chief Medical Officer’s Expert Group on Cloning (November 1999); Preimplantation Genetic Diagnosis (March 2000) and Human Reproductive Technologies and the Law (May 2004).
Copies of the above publications and further copies of this response are available from the Policy Officer, Dr Marc Rands