Overview

Infant mortality is now so low in Europe that congenital disorders are a leading cause of infant death. Those affected infants who survive live longer than before, and the general aging of the population is leading to more late-onset genetic disorders. No longer is the geneticist limited to the passive role of prenatal diagnosis, prediction of recurrence risk and family counselling. As genetic knowledge and technology increase, so does the possibility of intervention. This greater role cannot be assumed by the geneticist alone, but must evolve through cooperation with obstetricians, neonatalogists, paediatricians, epidemiologists and lay community groups. A WHO survey was carried out in Europe into screening for Down's syndrome and the services for haemoglobin disorders, an excellent example of the large-scale prevention of inherited disease through population screening. Experience with such programmes shows that the best services have three essential parts: laboratory services, clinical services and services in the lay community. In practice, the community part is the most neglected, yet preventive services based on population screening must reach out to the entire affected community and gain their active participation. The survey also highlights the ethical issue of whose choice it should be to screen and which diseases should be screened for. The delicate issue of equity also arises when genetic diseases affect only certain areas or certain cultural or ethnic groups. This is a timely study of existing genetics services in Europe, that draws clear and cogent conclusions about the sort of community genetics services we should be aiming for.

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