Assessment of quality of genetic counseling services by study of adverse events

Abstract

Quality assessment of genetic counseling is rare in the 31 European nations of the Concerted Action on Genetic Services (CAGSE). Quality is here defined as the documented provision of genetic counseling in individual patient's records and adverse events are here defined as the occurrence of preventable genetic disorders when records suggest poor quality counseling has denied patients informed and unconstrained decisions. A lack of quality assessment is a matter of particular concern when counseling is provided by physicians who are not trained in medical genetics. In the UK a national audit has been successfully completed of adverse events associated with easily recognisable high-risk situations. Non-geneticists provided genetic counseling because only a minority of such cases is referred to clinical geneticists. The adverse events included within a defined period all Down syndrome pregnancies in women of 38 or more, all live born infants with neural tube defect, cystic fibrosis in a second sibling, beta thalassaemia major pregnancies and late onset medullary carcinoma of the thyroid (multiple endocrine neoplasia, MEN2). The overall findings were that non-geneticist clinicians concentrate on the management of disease and may overlook the need for counseling and recording data which patients will later need for decisions about reproduction or disease prevention. Counseling, screening and prenatal diagnosis were sometimes impossible because of late booking in pregnancy or because of delayed diagnosis of an earlier affected child with CF. There are marked regional inequalities of access to genetic services particularly for minority ethnic groups with increased risks of thalassaemia. Ongoing audit of adverse genetic events, including all cases of early onset breast and bowel cancer, is being developed as part of a national clinical governance strategy to improve the understanding and use of genetic counseling services.