Community Genetics Services in Europe: Report on a Survey (WHO Regional Publications European Series)

A comprehensive account of genetic diseases in Europe, and the technologies and services now available for treatment and prevention. Adopting a critical approach, the book uses the results of a European-wide survey to assess the strengths and weaknesses of existing genetics services and map out precise strategies for improvement. Details range from estimated numbers of Europeans suffering from specific genetic diseases to the average annual costs, per patient, of treatment, from advice on the safety and reliability of screening tests to a point-by-point account of deficiencies in most existing services. The book's analysis, which is supported by over 100 references, is presented in four parts. The first summarizes and interprets current medical knowledge about the causes, mode of inheritance, prevalence, management, and possibilities for prevention of congenital malformations, chromosomal disorders, and Mendelian (single-gene) disorders. The second part evaluates the quality of Europe's existing community genetics services, focusing on the extent to which current tools for primary prevention are being effectively used. The third part discusses the infrastructure and organization of community genetics services needed to reach the goals of relieving anxiety, increasing the proportion of healthy children born, and allowing families to live normal lives. Detailed advice on cost-benefit analysis is also provided. The final part issues 11 precise recommendations for improvements that could, if adequately implemented, reduce the annual number of births of European children with serious congenital disorders by tens of thousands.Modell, B. is the author of 'Community Genetics Services in Europe: Report on a Survey (WHO Regional Publications European Series)' with ISBN 9789289013017 and ISBN 928901301X.