Gene-related Examination in Health Evaluation and Promotion

This paper describes the present state and problems of genetic testing of monogenic and multifactorial disorders in genetic disorder. Hereditary breast and ovarian cancer syndrome (HBOC) is picked up as a sample of monogenic disorder. Persons affected by HBOC have mutations in BRCA1/BRCA2 gene, therefore, persons who have mutations in those genes must be taken care of occurrence of HBOC. Persons who have the plural number of family history about breast or ovarian cancers had better recommended to genetic testing of BRCA1/2 gene. Genome-wide association study (GWAS) and polygenic risk factor (PRS) study are developed rapidly but those studies about Japanese population are few for the present. Many genetic disorders are specific to populations. GWAS or PRS using Japanese population must increase from now on. genome-wide association study polygenic