Galjaard H
Academisch Ziekenhuis Rotterdam-Dijkzigt, afd. Klinische Genetica, Rotterdam.
Ned Tijdschr Geneeskd. 1997 Dec 6;141(49):2380-5.
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.
荷兰有七个临床遗传学中心。1996年，约6.3万人（遗传性疾病患者和可能的携带者）接受了检测。在临床遗传学中心，染色体研究、遗传性代谢疾病的生化诊断以及DNA诊断与遗传咨询和产前诊断相结合。针对先天性异常和遗传性疾病的三种不同实验室检测形式之间的界限正逐渐缩小。过去十年实验室检查、遗传咨询和产前诊断数量的变化表明，这些活动与资金筹集方式之间没有关联。由于相关疾病的患病率较低，单基因疾病的DNA诊断总数不会显著增加。然而，一旦癌症、心血管疾病、糖尿病、哮喘、风湿病、某些精神疾病和阿尔茨海默病等疾病的遗传风险因素被确定，DNA诊断将大幅扩展，并将在广泛的医学领域产生影响。
