Abstract
High‐throughput sequencing has greatly contributed to precision medicine.
On the other hand, comprehensive whole‐genome analysis has raised a new issue of disclosure of secondary findings, which is different from the original purpose of the analysis, and the response to this issue has been discussed. In Japan, guidelines for secondary findings have been developed, and the disclosure of germline genetic variants, such as cancer genome profiling, is already being performed in clinical practice. However, challenges remain in reporting secondary findings (SF) of germline pathogenic variants and managing the affected patients.
In this paper, we described the prospects and challenges of disclosing genetic information to patients, genetic counseling in Japan, and returning genomic research results to clinical practice, based on our experience in conducting clinical genomic research.
