De klinische genetica in Nederland. I. Organisatie, activiteiten en laboratoriumdiagnostiek

– There are seven centres for clinical genetics in the Netherlands. In 1996, some 63,000 persons (patients and possible carriers of hereditary diseases) were tested.

– In centres for clinical genetics chromosomal studies, biochemical diagnostics of hereditary metabolic diseases and DNA diagnostics are integrated with genetic counseling and prenatal diagnosis.

– The borders between the three different forms of laboratory testing for congenital anomalies and hereditary diseases gradually diminish.

– The variations of the numbers of laboratory examinations, genetic advices and prenatal diagnoses over the last ten years show that there is no correlation between these activities and the method of funding.

– Owing to the low prevalence of the diseases involved, the total number of DNA diagnoses for monogenic diseases will not increase significantly. However, once genetic risk factors of diseases such as cancer, cardiovascular diseases, diabetes, asthma, rheumatism, some psychiatric disorders and Alzheimer dementia will have been mapped, DNA diagnostics will greatly expand and will have implications in a broad area of medicine.