Scriver C R
Birth Defects Orig Artic Ser. 1992;28(3):2-16.
Genetic variation (chromosomal, single gene, multifactorial) is a significant cause of morbidity and mortality in human populations. It increases in relative importance along with improvement in socioeconomic and environmental conditions and in association with prudent lifestyle. It affects longevity, development, reproductive capability, schooling, work and appearance of individuals. Its evidence is ubiquitous in the health care disciplines. Health care systems in general do not provide resources to meet the demand for genetics. Prevention of mutations, avoidance of their effects by reproductive counseling and treatment to offset mutant phenotypes are increasingly relevant scientific initiatives with broad social implications.
基因变异（染色体、单基因、多因素）是人类群体发病和死亡的一个重要原因。随着社会经济和环境条件的改善以及与审慎生活方式的关联，其相对重要性不断增加。它影响个体的寿命、发育、生殖能力、学业、工作和外貌。其证据在医疗保健学科中无处不在。一般来说，医疗保健系统没有提供资源来满足遗传学方面的需求。预防突变、通过生殖咨询避免其影响以及治疗以抵消突变表型，这些都是具有广泛社会影响且日益重要的科学举措。
