• With regard to setting out the clinical significance of the pathogenic
variants, reference will be made to the four-tier classification of
somatic mutations put forward by the American Society of Clinical
Oncology (ASCO), the College of American Pathologists (CAP), and
the Association for Molecular Pathology (AMP), and to the germline
mutation pathogenicity classification guidelines of the American
College of Medical Genetics and Genomics (ACMG) and the AMP.
Reflection of these classifications in reports will be examined.
• Database information (ClinVar database provided by the National
Center for Biotechnology Information [NCBI], Catalogue Of Somatic
Mutations In Cancer [COSMIC], etc.) should also be provided with
ease of use by the expert panel in mind.
Furthermore, after the report is prepared, it should be divided into
different levels for stepwise return to patients, such as: (1) the level of
existing gene panel tests; (2) the level of whole exome analysis; and (3)
the level of structural aberrations and research analysis beyond the
known range.

5) Expert Panel discussions and return of results to patients at medical
institutions
Cancer
Starting in FY2022, the analysis results of whole genome analysis will be
returned to patients, mainly by the designated core hospitals for cancer
genomic medicine and designated hospitals for cancer genomic medicine
that have in place the main requirements for medical institutions that return
results to patients (see (4) (a)).
o Expert panel
Since reports on the results of whole genome analyses are expected to
contain more content relating to secondary findings than reports on
cancer genome panel tests, medical institutions that return whole
genome analysis results to patients need to have systems in place that
can judge such content appropriately.
Therefore, for the functions of expert panels in cancer genomic
medicine, in addition to the requirements indicated in the “Requirements
for Implementation of Expert Panels” (Notice by the Director of Cancer
and Disease Control Division, Health Service Bureau, MHLW), expert
panels at medical institutions that return the results of whole genome
analysis to patients are also required to have the participation of experts
who can judge the scientific validity, interpretation, and significance of
the results of whole genome analysis.10
o Confirmation tests

10 For example, this assumes full-time staff, etc. who have taken introductory- and advanced-level

courses of the MHLW Project for Development of Human Resources Relating to Whole Genome
Analysis of Cancer and have received certification as experts in bioinformatics, or full-time
physicians who have authored peer-reviewed papers in English related to whole genome analysis.

44