Genetic Testing of BRCA 1 & 2 Genes as Clinical Testing

Abstract

Genetic Testing of BRCA 1 & 2 genes are used in the U.S. for clinical risk assessment of hereditary breast and ovarian cancers. However, these tests are currently used almost solely for research purpose and not in clinical practice in Japan. We describe the current situation of these genetic tests in Japan from the perspective of a commercial reference laboratory that has been trying to put these tests to practical use in clinical medicine, as in the U.S., in correlation with the established Japanese ethical guidelines for clinical genetic testing.