[Human germline genetic tests].

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.