further application to personalized medical care, such as selection of
treatment methods and prediction of recurrence.
Table 1. Cancer: Areas and specific examples of types of cancer (domains) where
results may be expected
Areas where results may be expected
Area

i

Cancer types with
many structural
abnormalities that
are difficult to
detect by
conventional gene
panel analysis or
whole exome
analysis

ii

Cancer types for
which stratification
by genomic
profiling, including
germline genomic
variation, can lead
to treatment

Expected results

In addition to structural abnormalities
and abnormalities in non-coding
regions such as transcriptional
regulatory regions, which are difficult to
detect by conventional whole exome
analysis and gene panel analysis,
additional analyses such as multiomics
analysis including DNA methylation and
other epigenetic irregularities will lead
to identification of candidate therapeutic
targets.
Integration of cancer genome profiling
based on whole genome analysis and
wholescale refinement of existing
subtype classifications will lead to
further application to personalized
medicine, such as selection of
treatment methods and prediction of
recurrence.

Specific examples of
types of cancer
(domains)
o Hematological tumors
o Bone and soft tissue
tumors
o Brain tumors
o Some respiratory
organ tumors*1
o Some digestive organ
tumors*2

o Pediatric, AYA
cancers
o Hereditary cancers
o Some gynecological
and breast cancers*3

*1 Includes driver gene-negative lung cancer, etc.
*2 Includes esophageal cancer, stomach cancer (scirrhous stomach cancer), colorectal cancer
(unresectable metastasis), pancreatic cancer, etc.
*3 Includes triple-negative breast cancer, etc.

Rare/Intractable diseases
Rare/Intractable diseases are classified into monogenic diseases, multifactorial
diseases, and diseases that are difficult to diagnose. For each of these, cases will
be targeted for which results can readily be expected in accordance with the
characteristics of the disease.
• Monogenic diseases: Diseases that have been diagnosed as genetic
diseases, but for which no known causative gene can be found by whole
exome analysis.
• Multifactorial diseases: Diseases, including those that do not require genetic
analysis for diagnosis, for which the development of therapies that use whole
genome information can be expected and for which a certain number of
cases can be secured.
• Diseases that are difficult to diagnose: Cases that are difficult to diagnose
even with existing genetic analysis, etc.

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