National Confidential Enquiry into counselling for genetic disorders by non-geneticists: general recommendations and specific standards for improvingcare

Objectives To assess genetic counselling by non-geneticists and to improve clinical practice. Design National retrospective review of casenotes. Setting Antenatal, paediatric, medical, and surgical units. Sample 1293 genetic events were identified, involving potentially avoidable cases of Down's syndrome, neural tube defect, cystic fibrosis, beta thalas saemia major and late onset medullary carcinoma of the thyroid (multiple en docrine neoplasia). Notes were available for review in 888 (69%) of these c ases. Outcomes Documented counselling, offers of relevant genetic screening and p renatal diagnosis. Results Clinical audit was frustrated by poor quality hospital records lack ing evidence of counselling. Non-geneticist clinicians concentrate on the m anagement of disease, and may overlook the need for counselling and recordi ng data which patients will later need for decisions about reproduction or disease prevention. Counselling, screening and prenatal diagnosis were some times impossible because of late booking in pregnancy, or because of delaye d diagnosis of an earlier affected child with cystic fibrosis. There are ma rked regional inequalities of access to genetic services, particularly for minority ethnic groups with increased risks of thalassaemia. Although patie nts were selected for this enquiry because they had known high risks of gen etic disorders, on average less than half were referred to medical genetici sts. General recommendations relevant for improvement of care for patients and families with medical genetic needs and those specific for each disorde r are given. Conclusions Assessment of the quality of genetic care becomes increasingly important as genetic counselling spreads beyond the narrow confines of spec ialist genetic services. Even though the events studied in this enquiry lar gely occurred between 1991 and 1995, there is little reason to believe that clinicians in general have become markedly better trained in medical genet ics. The General Medical Council and Medical Royal Colleges should urgently consider the need for a national policy for improving undergraduate and po stgraduate medical, nursing and midwifery education in genetics. Commission ers of clinical services should require that genetic management be at least as well-documented as surgical operations, drug records and informed conse nt, perhaps by using a nationally agreed pro-forma for prenatal diagnosis. Regular audit of counselling provided by non-geneticists is necessary to co nfirm that clinical improvements are occurring and standards are being met. The Confidential Enquiry provides data for a systematic approach to clinic al governance of genetics in all specialities. This sets the scene for mult i-speciality NHS genetic services capable of giving patients greater consis tency both in access and in quality.