THE RESOURCE IMPLICATIONS AND SERVICE OUTCOMES OF GENETIC SERVICES INTHE CONTEXT OF DNA TECHNOLOGY

The use of DNA technology has transformed genetic counselling services for single gene disorders. For conditions such as Duchenne muscular d ystrophy and cystic fibrosis, both of which cause severe morbidity and premature death, DNA tests mean that individuals can be told with gre ater certainty whether they are carriers of a genetic trait and of the likelihood of their having a child affected by the disorder. This pap er presents the findings of an evaluation of the resource implications and service outcomes of genetic services in the context of DNA techno logy (DNA services). Results are based on data collected over a 4-year period from three large genetics centres throughout the United Kingdo m. Our conclusions are that for the conditions for which they are comm only used, and as a regionally based service, DNA services are effecti ve and relatively inexpensive. For severe conditions, and for neurolog ical disorders, although tests will not alter family size plans the de mand for tests during pregnancy will be high and the results will have a significant impact on individuals' decisions regarding the continua tion of their pregnancies. For conditions of variable severity, those that start late in life or are amenable to treatment, the demand for t ests is likely to be low. In comparison with the general population we found a greater existence of psychological side effects amongst couns ellees. These effects were linked to individuals having a close relati ve, usually a child, already affected by a disorder rather than being a consequence of the genetic counselling process.