Clarke Angus
J Med Ethics. 1993 Mar;19(1):47-9. doi: 10.1136/jme.19.1.47.
Clinical genetics encompasses a wider range of activities than discussion of reproductive risks and options. Hence, it is possible for a clinical geneticist to reduce suffering associated with genetic disease without aiming to reduce the birth incidence of such diseases. Simple cost-benefit analyses of genetic-screening programmes are unacceptable; more sophisticated analyses of this type have been devised but entail internal inconsistencies and do not seem to result in changed clinical practice. The secondary effects of screening programmes must be assessed before they can be properly evaluated, including the inadvertent diagnosis of unsought conditions, and the wider social effects of the programmes on those with mental handicap. This has implications for the range of prenatal tests that should be made available. While autonomy must be fully respected, it cannot itself constitute a goal of clinical genetics. The evaluation of these services requires interdepartmental comparisons of workload, and quality judgements of clients and peers.
临床遗传学所涵盖的活动范围比讨论生殖风险和选择更为广泛。因此,临床遗传学家有可能减少与遗传疾病相关的痛苦,而无需旨在降低此类疾病的出生发病率。对基因筛查项目进行简单的成本效益分析是不可接受的;已经设计出了更复杂的此类分析,但存在内在矛盾,而且似乎并未导致临床实践的改变。在对筛查项目进行恰当评估之前,必须评估其附带影响,包括意外诊断出未被寻求诊断的病症,以及这些项目对智力障碍者产生的更广泛社会影响。这对可供使用的产前检查范围具有启示意义。虽然必须充分尊重自主权,但自主权本身不能构成临床遗传学的目标。对这些服务的评估需要对工作量进行部门间比较,并由客户和同行做出质量判断。