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Clinical governance and genetic medicine. Specialist genetic centres and the Confidential Enquiry into Counselling for Genetic Disorders by non-geneticists (CEGEN)
  1. Genetic Enquiry Centre (Web site geneticenquiry/homepage.htm), St Mary’s Hospital, Manchester M13 0JH, UK

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    The concept of clinical governance1 followed the search in most countries for accessible, effective, and economically efficient health services. In England, the NHS Executive’s definition2 of clinical governance includes the rapid detection of adverse events, which are openly investigated, and from which lessons are learned. Confidential enquiries are a way of studying adverse events, for example maternal deaths and perioperative deaths. These enquiries are an established part of British health care because they are a potential tool for improvement and are to be included within the remit of the newly established National Institute of Clinical Excellence (NICE). Their acceptance has depended on their being entirely non-censorious and governed by strict confidentiality. Their effectiveness is being tested3 and is presumably enhanced by regular reports which are covered by the national media. Starting in 1991, the UK Confidential Enquiry into Counselling for Genetic Disorders has shown that the study of adverse events can be applied to the bulk of counselling which is part of the routine work of many specialities.


    The speciality of medical genetics has been extensively documented in the UK.4-11 (“Medical genetics” is here used synonymously with “clinical genetics” to distinguish the speciality; the term “genetic medicine” is used to describe counselling and genetic technologies in many specialities.) In addition, an up to date overview of the strengths, weaknesses, opportunities, and threats to genetic services in 31 nations in Europe12 showed remarkable international agreement about most important issues concerning clinical, technical, educational, research, and ethi-cal matters. In contrast, there is much variation of access, many deficiencies, and poor coordination of services and resources for patients and families with genetic problems. In the 31 nations (population 675 million), there was an average distribution per million of 2.7 physicians with (very varied) training in medical genetics.13 Clinical geneticists are greatly constrained by limitations of resources, trained personnel, and organisation.


    Four factors can be cited as contributing to difficulty when setting out to assess and improve the quality of genetic services. However, none of these is unique, being rather typical of the early implementation of a new technology.

    (1) The speciality is in a state of rapid evolution thanks to the human genome programme compounded by the rapid unravelling of the genetics of common diseases.

    (2) There is a common perception that there are major (even prohibitive) ethical issues involved, notably those concerning human reproduction, genetic screening, confidentiality, individual autonomy, potential victimisation and stigmatisation, the right to know and the right not to know. However, it can be argued that these are not unique ethical issues, only differences of emphasis.

    (3) The outcome measures available for clinical audit of genetics are “soft” ones concentrating on the provision of informed choice without coercion (known as “non-directive genetic counselling”). This is a particular problem for audit because objective quantitative measures of prevention or avoidance by abortion are deemed unacceptable. However, it is perfectly possible to use “adverse events” as a measure if they are defined only in terms of poor quality of counselling which limits the ability of patients to make informed and unconstrained decisions. Eventually, quantifiable measures may become easier for common diseases where the offer and uptake of screening procedures occur.

    (4) There is no clear definition of responsibility between the speciality of medical genetics and most other specialities. Genetic counselling is an integral component of the work of all specialities which are also increasingly using genetic “tools”. This is in fact a powerful argument for clinical governance in genetic medicine.


    When there were no effective interventions it did not much matter if medical practitioners ignored the genetic risk of disease. The situation has changed dramatically. Prenatal diagnosis, selective termination, large scale pregnancy screening, and molecular genetics have all arrived within a single medical generation. The study of 31 nations referred to earlier showed that there are in practice few trained medical geneticists and consequently primary care and other non-geneticist specialists have great responsibility for the management of patients with genetic problems. Health care workers have to cope with new strategies of considerable scientific, ethical, and legal complexity without, in most cases, significant undergraduate or postgraduate training.


    How well are non-geneticist clinicians able to provide genetic counselling and ensure that patients were given informed choices? This question was addressed by CEGEN which audited genetic counselling as part of the day to day work of all clinicians and of primary care. The enquiry assessed the quality of service provision by non-geneticist clinicians by reviewing clinical records for patients who had experienced avoidable genetic problems even though they were known in advance to be at markedly increased risks because of maternal age, pregnancy, screening, or family history. These included women of 38 or more with a conceptus with Down syndrome, fetuses with neural tube defects, fetuses with thalassaemia, a second sib with cystic fibrosis, and patients with multiple endocrine neoplasia. To avoid selection bias, virtually all such cases within the defined time periods were ascertained. The quality of management was assessed by the clinicians themselves, reviewing their clinical records for written documentation of “genetic counselling”, more specifically for notes of explanations and information, genetic tests, and interventions. For validation a randomly selected set of the same case records was scrutinised by the enquiry team: in the thalassaemia study the enquiry team reviewed all notes.


    The findings provide data for a systematic approach to clinical governance of genetics as practised by all specialities. The main findings14-18 were that clinical audit was frustrated by poor quality hospital records which often lacked clear evidence that patients had made informed choices. Non-geneticist clinicians appeared to concentrate on the management of disease to the extent of overlooking the need for counselling and recording data, which patients will later need to make decisions about reproduction or disease prevention. Counselling, screening, and prenatal diagnosis were sometimes impossible because of late booking in pregnancy or because of delayed diagnosis of an earlier affected child. It was striking that fewer than half had been referred to medical geneticists and their management was then entirely by non-geneticists. The proportion of cases that are not referred to medical geneticists will increase as the genetic component of the causation of diabetes mellitus, coronary heart disease, schizophrenia, Alzheimer’s disease, and others affects clinical management. Even though the events studied in this enquiry largely occurred between 1991 and 1995, there is little reason to believe that clinicians in general have become markedly better trained in medical genetics.


    CEGEN has recommended general principles19 to guide improvements in many specialities in their management of clinical genetic problems. Commissioners of clinical services should require that details of genetic management of individual patients should be documented in health records at least as well as surgical operations, drug records, and informed consent. Improvements in undergraduate medical and nursing education should include basic genetics management, raising interest and awareness of the importance of family history, and of a range of common genetic disorders and the prevention of disease. However, a system of continuing audit of genetic management is essential to monitor improvements in all specialities. CEGEN provides such an audit, as it is simple to implement and guarantees confidentiality to clinicians and patients. It avoids eugenic overtones by enquiring into adverse events, which are strictly defined as the failure to provide documented records of appropriate counselling, testing, and support without coercion. However, clinical audit of genetics must be continuing and comprehensive ensuring complete ascertainment of all defined cases. The CEGEN Steering Committee is currently identifying a rotating series of adverse events for continuing audit, which will involve multidisciplinary, primary, secondary, and social care and lead to a common adverse event reporting system including appropriate disease registers.

    Will genetic confidential enquiries be adopted outside the UK where enquiries into the management of maternal deaths and perioperative deaths are routine? In this connection it is likely that the convergence of health care systems in Europe will encourage the more general adoption of innovations that are successful in individual Member States.



    • * CEGEN steering committee set up in 1992 (with later co-opted members): Eva Alberman, Martin Bobrow, Ian Lister Cheese, John Dodge, Gareth Evans, Mike Gill, Alastair Kent, Hilary Harris, Rodney Harris (chairman), Anthony Hopkins, June Lloyd, Bernadette Modell, John Northover, Bruce Ponder, Charles Rodeck, Jill Clayton Smith, Tony Taylor, Nicholas Wald, Paula Williamson.