[Genetic counseling in child neurology]
1Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo. saito@img.twmu.ac.jp
Abstract:
Advances in molecular genetics have made great contributions to the development of genetic medicine. Chromosomal and genetic-biochemical analyses as well as DNA-based testing have been performed clinically as laboratory tests. Because we can now obtain more accurate molecular diagnoses, we can predict the prognosis of a patient or diagnose a patient prenatally or presymptomatically. As genetic testing conveys important genetic information that remains unchanged throughout an individual's lifetime, there are some important issues for discussion. These include informed consent before testing, protection of an individual's genetic information, handling of specimens used in testing, and genetic counseling before and after testing. In this review, we discuss two examples of genetic counseling for Duchenne muscular dystrophy and myotonic dystrophy, as well as the system of providing genetic counseling.
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