mechanisms and immune responses, as well as AI analysis and digital
medicine.
Rare/Intractable diseases
Whole genome analysis of rare/intractable diseases will be carried out to promote
better medical care for patients with rare/intractable diseases, such as early
diagnosis and development of novel therapies. Whole genome analysis will
facilitate early diagnosis of rare/intractable diseases, elucidation of the nature of
rare/intractable diseases, and development of effective treatment and diagnosis
methods.
(a) Early diagnosis of rare/intractable diseases
For patients with diseases that are difficult to diagnose through genetic tests
other than whole genome analysis, but that can probably be narrowed down
through whole genome analysis, a system will be put in place for a physician
with expertise in whole genome analysis in the field of rare/intractable
diseases to fully explain the significance and purpose of the test, as well as
the impact of the test results on the patients and their relatives, so that the
patients can undergo whole genome analysis after having understood the
implications.
For rare diseases with small numbers of patients in particular, a
framework for joint international collection of cases and data sharing will be
put in place to enable early diagnosis.
(b) Elucidation of the nature of rare/intractable diseases
In the field of rare/intractable diseases, genome information obtained through
whole genome analysis, as well as high-quality clinical information (including
disease-specific clinical findings, biomarkers, etc.) based on the
characteristics of each rare/intractable disease, will be managed in an
integrated fashion.
Carrying out whole genome analyses will allow the accumulation of
information such as introns, regulatory regions, and even genome structure
that cannot be obtained through gene panel tests or whole exome analysis. At
the same time, it will also further the elucidation of the true nature of
rare/intractable diseases and provide knowledge that will contribute to the
establishment and improvement of objective diagnostic criteria, leading to
early diagnosis of rare/intractable diseases.
© Facilitating the development of effective treatment and diagnostic methods
In addition to elucidating the nature of rare/intractable diseases, collecting and
analyzing high-quality clinical information and registries of rare/intractable
diseases, as well as genome information, will promote the development of
more effective therapeutic and diagnostic methods for patients with
rare/intractable diseases.

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