[Developmental of a Support System for the Genetic Diagnosis and Counseling of Rare Disease]

There are difficulties in diagnosis and counseling after genetic testing, due to the increase in the rate of diagnostic results arising from the development of genetic testing techniques and the discovery of mutations with unclear pathogenicity derived from next-generation sequencing. By presenting examples of additional support provided for the interpretation of results after genetic testing and subsequent genetic counseling support, we attempted to present a system that seeks to resolve difficulties that may generally be experienced in the post-genetic testing process. Fifteen cases of interpretation support were provided through the post-genetic-testing result-interpretation support project under the support of the Korea Disease Control and Prevention Agency, and effective genetic counseling support was provided accordingly. Diagnostic support through the interpretation of results after genetic testing was aimed at resolving the diagnostic odyssey of rare genetic diseases. Moreover, support for appropriate diagnoses can reduce the social and economic burdens. We propose a national-level management system for medical genetics team services covering treatment, testing, and counseling.