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[Human germline genetic tests].

作者信息

Kosugi Shinji

机构信息

Department of Laboratory Medicine, Department of Clinical Genetics, Kyoto University Hospital, Kyoto 606-8507.

出版信息

Rinsho Byori. 2003 Oct;51(10):1036-40.

Abstract

A guideline for genetic testing by 10 scientific societies was published recently. This can be summarized as follows. 1) Generalized medical care for genetic medicine is necessary when genetic testing is considered. 2) Analytical validity, clinical validity and clinical usefulness must be proven when genetic testing is applied to clinical medicine. 3) Informed consent must be given by the client before genetic testing is performed. 4) Information on an individual's genetic test must be protected tightly and should not be disclosed to others without permission from the client. 5) Genetic counseling must be performed before genetic testing is performed. 6) The purposes of genetic test performed to prepositus ((i) for definite diagnosis of the patient and (ii) for obtaining information by predictive tests for family members) should be clearly distinguished. 7) Genetic tests for detection of carrier status of specific genetic conditions should be carefully performed, because they do not affect the health condition themselves, but can be a cause of discrimination. 8) Predictive genetic tests must be performed very carefully, especially when no procedures of treatment/prevention are available. 9) In general, genetic testing of children should be considered when such tests provide clinical benefits to the children themselves.

摘要

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