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PRENATAL DIAGNOSIS AND GENETIC SCREENING The report of the Royal College of Physicians1 on prenatal diagnosis and genetic screening, and their community and service implications, is visionary but contains a great deal of good sense. In the introduction it points out that 1-2% of all newborn have a major congenital or genetically determined disorder, important because of their lifelong implications and the burden they place on the individuals, their families, and on society as a whole. Few can be treated satisfactorily, management when possible is burdensome, expensive and unsatisfactory. Because of this, prenatal diagnosis and selective abortion are options that should be available to couples at risk. Yet most such disorders are sporadic, occurring in infants who are born to healthy young women with no identifiable risk factor; they cannot be prevented, for neither diagnosis nor intervention is possible before pregnancy is established, so the only means of detecting these is by population screening during pregnancy. By contrast, 2-3% of all couples are at high and recurrent risk of having a child with a disorder that is inherited; it is becoming increasingly possible to detect these couples, by biochemical or DNA tests and such screening should he offered before pregnancy. Prenatal diagnostic services therefore must operate at two levels. First there are the specialist clinical genetics and fetal medicine services; in support of these at the second level are genetic services in the community, involving population screening through the primary health care system and obstetric and other hospital services. Such services require to be integrated into all levels of the maternal and child health system. The report discusses the scope of prenatal diagnosis, future developments in it, the special problems of ethnic minorities, genetic counselling and education, the audit of prenatal diagnosis, the organisation of services, and ethical issues in prenatal diagnosis. The list of clinical genetic centres in existence in 1988, given in Appendix 1, shows how far the National Health Service has advanced in recent years towards the goals that this report sets. The sixty-seven pages of the report are full of interesting and useful information and opinion, with ample diagrams and tables. In its conclusions the report points out that while everyone is at risk for having offspring with a congenital or genetically determined disorder, almost all couples have the potential to bear healthy children. The object of prenatal diagnosis is to provide reassurance when the fetus is unaffected, and information, prognosis and choice, when a severe abnormality is present. All available evidence shows that prenatal diagnosis is wanted by the majority of couples. But political as well as professional will is required to implement the recommended services. So far, since the necessary decisions have not been made there is a lack of accepted policy, guidelines for service planning and delivery, resource allocation and training. The development of powerful new laboratory and obstetric techniques, which is rapidly expanding the scope of genetic screening and prenatal diagnosis, makes it urgent to rectify the shortcomings. The recommendations are sensible and fair. Genetic screening and prenatal diagnosis should be equally available to the whole community. They should be recognised as an intrinsic component of maternal and child health services. A policy advisory structure should be set up to facilitate future decision-making. On account of the seriousness of the ethical issues involved, a professional code of practice governing genetic screening should be developed and widely publicised to reassure the public that prenatal diagnosis will not be used for directed reproductive policies and that prevention programmes will not detract from the appreciation of and provision for people with disabilities. Resources should be made available to ensure the equitable delivery of existing services and to support the development and application of new ones. Professional training in medical genetics and the principles of genetic counselling should be provided for all maternal and child health workers, but also genetic information and counselling must be provided at the community level. For this, specially trained health visitors and midwives, who are already the principal point of contact with mother and child, would be ideal. This suggestion is consistent with current proposals to train nurse specialists. Genetic specialists should be attached to each obstetric unit practising prenatal diagnosis, and for them it is urgent to define a career structure. Policy formulation needs to be at national, regional, and district levels. Because of their multidisciplinary nature, prenatal diagnosis services should be under the overall supervision of designated district and regional co-ordinators, usually clinical geneticists. Monitoring should be organised on a regional basis, but a national monitoring centre is also needed to co-ordinate information nationally and stimulate equal service delivery throughout the country. This thought-provoking report goes a long way beyond the recommendations of earlier working parties, for example that of the Clinical Genetics Society on the provision of services for the prenatal diagnosis of fetal abnormality2. Indeed, comparison of the two reports shows just how great has been the advance in the intervening ten years, not only in the provision of services but also in attitudes to them. The comprehensive nature of the service recommended is logical, but will be expensive though in the longer term well worth the investment; with present attitudes to NHS funding it will not be easy to finance. But certainly, until there is a formal structure for formulation of policies and their implementation, it is difficult to see how expansion of the current services can be on anything other than an ad hoc basis, dependent on the recognition of their importance by regional and district administrators. 1 Prenatal diagnosis and genetic screening and their community and service implications. Royal College of Physicians of London, September 1989.2 Supplement to the Bulletin of the Eugenics Society 1978. | ||||||