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遗传学研究成果为精神病学带来的机遇。

Opportunities for psychiatry from genetic findings.

作者信息

Rutter M, Plomin R

机构信息

MRC Child Psychiatry Unit, Institute of Psychiatry, London.

出版信息

Br J Psychiatry. 1997 Sep;171:209-19. doi: 10.1192/bjp.171.3.209.

Abstract

BACKGROUND

The opportunities for psychiatry deriving from available or likely genetic advances are reviewed.

METHOD

Clinical implications are considered in the context of both the misconceptions and benefits associated with relevant genetic findings.

RESULTS

Misconceptions include that: heritability estimates have a 'true' fixed value; a high heritability means that environmental interventions will be ineffective; a high heritability within groups means that differences between groups will also be due to genes; genetic effects are determinative; 'genetic' means single abnormal genes; genes associated with disease must be bad and justify eugenic measures; gene therapy will be widely applicable; and genetic screening of the general population will be useful. The benefits include demonstrations that: both genes and environment have an ubiquitous influence; some prevailing diagnostic assumptions are mistaken; genes influence development; the effects of nature and nurture are not separate; and environmental effects tend to be person-specific. The potential value of molecular genetics lies in elucidation of causal processes as they apply to both brain systems and nature-nurture interplay; improving diagnosis and genetic counselling; and the development of improved pharmacological interventions.

CONCLUSION

Advances in genetics will make a major impact on clinical psychiatry, and should bring practical benefits for both prevention and treatment.

摘要

背景

对精神病学从现有或可能的基因进展中获得的机会进行综述。

方法

在与相关基因发现相关的误解和益处的背景下考虑临床意义。

结果

误解包括:遗传度估计有一个“真实”的固定值;高遗传度意味着环境干预将无效;群体内的高遗传度意味着群体间的差异也将归因于基因;基因效应是决定性的;“基因”意味着单一异常基因;与疾病相关的基因一定是有害的且可为优生措施提供正当理由;基因治疗将广泛适用;对普通人群进行基因筛查将有用。益处包括证明:基因和环境都有普遍影响;一些流行的诊断假设是错误的;基因影响发育;先天与后天的影响并非相互独立;环境影响往往因人而异。分子遗传学的潜在价值在于阐明适用于脑系统和先天与后天相互作用的因果过程;改善诊断和遗传咨询;以及开发改进的药物干预措施。

结论

遗传学进展将对临床精神病学产生重大影响,并应为预防和治疗带来实际益处。

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