In July 2004 the Human Genetics Commission (HGC) launched a public consultation paper “Choosing the Future: genetics and reproductive decision-making” , receiving 196 written responses. People Science and Policy Ltd. (PSP) was commissioned by the HGC to conduct a qualitative analysis of the responses.
Attitudes to prenatal screening programs
Respondents support prenatal genetic screening programs where there may be resultant health benefits to mother and/or child, benefits to society from scientific advancement and/or where they allow individuals to take “responsibility” for their reproductive decisions. However, support for the expansion of screening programs tends to depend on the severity of the condition, its known heritability and whether there is treatment available or not.
There are concerns that the existence of routine prenatal screening programs puts pressure on individuals to take part, and that prenatal diagnostic testing (which follows screening) pressurizes parents to terminate after a positive result. Termination is felt by some to undermine the value of human life and encourage the stigmatization of those who live with genetic disorders.
Current provision of prenatal screening and diagnostic services
Prenatal screening and diagnostic services are thought to vary between regional health services and between different types of health professional in the UK. The need for national standards and the systematic evaluation of services is highlighted.
Counseling in diagnostic services is generally considered to be a high standard. However, the screening setting is viewed as highly pressurized with too much emphasis on “routine”. Whilst there is agreement that genetic counseling should be non-directive, there is felt to be a conflict of need where patients expect or want to be given advice. At the same time, the direction is seen to be implicit in the way that the current system is set up and to be affected by extraneous social and other pressures.
It is felt that the majority of information in the screening context is too heavily concentrated on the booking stage, where it must compete for time and attention with other issues. It is felt that the sheer volume and complexity of information can be too much for patients under such time pressure. The need to cater for different languages, formats, and educational abilities is stressed. Some feel that current processes provide insufficient information on the realities of living with a genetic disorder.
The relationship between prenatal diagnosis (PND) and termination
Termination is felt to be more likely the more severe the disorder, where there is a family history or previous experience, or if the counseling is poor. However, it is also felt that a number of women undergo PND for the purposes of information and to enable them to prepare for the birth of an affected baby.
Many respondents believe that decisions to terminate are influenced by the societal pursuit of perfection, widespread ignorance about disability, and by a lack of support for the parents of disabled children. However, others argue that the decision to terminate a pregnancy is an individual decision and will reflect a number of different factors. The desire to prevent future suffering is not necessarily believed to be inconsistent with support for those who live with disabilities by these respondents.
Attitudes towards pre-implantation genetic diagnosis (PGD)
PGD is seen as morally preferable to PND by some respondents because it avoids the need for later termination of an affected fetus, or the potential for miscarriages due to abnormality. In particular, PND may be preferable for such areas as tissue-typing or carrier testing. For others, PGD is less acceptable because it involves the destruction of a larger number of human embryos. Some respondents do not support either PGD or PND because they do not see an ethical or technical distinction between an early-stage embryo and a fetus.
PGD is seen as technically more complex and highly invasive. Conception rates are lower than for regular IVF. These factors lead to the view that PGD is more expensive. Respondents feel that testing should be restricted on a case-by-case basis according to the severity of the disorder, the risk of the pregnancy being affected and the cost and efficacy of the test. It is felt that additional regulation of PGD may be necessary, and there is support for the HFEA continuing to regulate this area.
Attitudes towards the selection of sperm, egg and embryo donors
Many respondents fear the social and health impacts that donor selection may have on society. Child welfare is an argument that is used both for and against donor selection. However, many supporters of donor selection argue that parents should be able to replicate how individuals in society select partners. The selection criteria that are permitted in the current system of adoption, which includes race and to some extent the physical characteristics of parents, are suggested as a model. Selecting for impairment (e.g. deafness) or enhancement (e.g. IQ) is not well supported.
In general, the current regulation of donation in approved clinics is considered to be appropriate. However, there are concerns about matching services, particularly those operating outside the UK, and the difficulty of monitoring individual contracts. Changes to rules about donor anonymity are highlighted as a particular area of concern.
Attitudes towards future developments in genetics and reproductive technologies
Areas of hope include the further identification of disease-causing genes, gene chip technology and non-invasive techniques that could also allow earlier stage screening. A number of respondents also express hopes about the development of treatments for genetic disorders, which may be applicable prenatally. There is a reference, in particular, to the potential of gene therapy and fetal surgery. There are conflicting views about the promise of embryo and stem cell research, particularly in relation to cloning, and about the use of DNA chips prenatally.
Changes to the current framework and organisation of services
There is felt to be a need for more genetics professionals and training of existing health professionals. There is also a call for tighter integration of genetic services with other areas of medicine. Accessibility of services and the need for further funding is stressed. The need for effective monitoring of the private sector is highlighted.
The HFEA is viewed as having a vital role in overseeing the development of reproductive genetic services, in collaboration with the HGC. However, parliamentary involvement in decision-making, particularly in the areas of PGD for tissue-typing is suggested by some, whilst others defend the autonomy of clinics to make individual decisions. Continued public involvement in policy decision-making is also highlighted.
The Human Genetics Commission Report
The full text of PSP’s report to the HGC is available on the HGC website http://www.hgc.gov.uk The Commission’s final report on genetics and reproductive decision-making is due to be published in summer 2005.