Verheij J B, Edens M, Cornel M C, Groothoff J W, ten Kate L P
Vakgroep Medische Genetica, Rijksuniversiteit, Groningen.
Ned Tijdschr Geneeskd. 1994 Jan 8;138(2):71-7.
To analyse if data now available on frequencies of genetic disorders are sufficient to be used in future as indicators when an evaluation of new developments is desired for policy-making purposes.
Literature study.
The Netherlands.
Using automated literature search systems, papers published before October 1991 were surveyed and an inventory of incidence and prevalence of genetic disorders in the Netherlands was made.
Depending on the pattern of heredity differences in available data and their validity were found. Valid data on most of the II congenital anomalies investigated were available from the EUROCAT registration in the northern Netherlands. This method of data collecting is also suitable for the evaluation of prevalence development. On the 29 multifactorial diseases occurring later in life that were investigated many data were available, although the varying sources made comparison difficult. These data were often out of date and had a highly varying validity. Of 3 chromosomal abnormalities the prevalence at birth was known. Of only 22 out of 650 monogenic disorders, described in the Netherlands up to 1991, the prevalence at birth and(or) in the population was known.
Data on frequency of genetic disorders can be collected but the information now available is insufficient to serve as an indicator for government policy. Frequencies should also be considered in relation to the impact of the disease on the individual, his environment and society.
分析目前有关遗传性疾病发病率的数据是否足以在未来用于政策制定目的的新进展评估指标。
文献研究。
荷兰。
利用自动文献检索系统，对1991年10月以前发表的论文进行调查，并对荷兰遗传性疾病的发病率和患病率进行清点。
根据遗传模式，发现现有数据存在差异及其有效性问题。在荷兰北部，大多数调查的II类先天性异常的有效数据可从EUROCAT登记处获得。这种数据收集方法也适用于患病率发展的评估。对于所调查的29种后期发生的多因素疾病，有许多数据可用，尽管不同来源的数据难以比较。这些数据往往过时，有效性差异很大。在3种染色体异常中，已知其出生时的患病率。在1991年以前荷兰描述的650种单基因疾病中，只有22种已知其出生时和（或）人群中的患病率。
可以收集遗传性疾病发病率的数据，但现有的信息不足以作为政府政策的指标。还应考虑发病率与疾病对个人、其环境和社会的影响之间的关系。
