Clinical genetics in the Netherlands. I. Organization, activities and laboratory diagnosis

Galjaard, H.

Nederlands Tijdschrift Voor Geneeskunde 141(49): 2380-2385

1997


ISSN/ISBN: 0028-2162
PMID: 9554157
Document Number: 479331
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.

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