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参考資料9 Action plan for whole genome analysis 2022 (56 ページ)

公開元URL https://www.mhlw.go.jp/stf/newpage_31469.html
出典情報 厚生科学審議会 科学技術部会全ゲノム解析等の推進に関する専門委員会(第14回 3/9)《厚生労働省》
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Digital medicine
Software and hardware products that measure substances and make interventions
on a scientific basis to maintain human health and diagnose diseases.
Analysis and Data Center
A center that collects genomic and clinical data on patients from medical and
research institutions and compiles the data into a highly secure database for use in
medical treatment, research, and drug discovery at medical and research
institutions and companies in Japan and other countries. Collecting data on large
numbers of patients allows more detailed comparison and analysis of individual
differences or characteristics, so that the data can be used in a variety of research
and development activities.
Cancer genomic medicine
Medical treatment in which the genomes of cancers (patients) are studied and the
nature of an individual patient’s cancer is ascertained on the basis of genetic
changes, so that the most suitable treatment can be selected. For example, in
Japanese lung cancer patients, changes in a gene called EGFR are seen in 30–
50% of cases. It is known that EGFR protein inhibitors (molecular target drugs) are
highly effective in patients with such cancers, so when this genetic change is found
in a patient, treatment with an EGFR inhibitor first, rather than other anticancer
drugs, may be appropriate for that patient. This applies to medical treatment based
on the results of whole genome analysis of cancer or the results of cancer gene
panel tests.
Cancer gene panel test
A test that examines changes in dozens to hundreds of genes occurring in cancer
cells, to understand the characteristics of a cancer. It is partially covered by national
health insurance. Depending on the genetic changes, it is sometimes possible to
determine which drugs are most likely to be effective. The results of the test are
reviewed by a panel of specialists, called an “expert panel,” and the doctor in charge
recommends a treatment to the patient in line with the results of the discussions of
the expert panel.
Liquid biopsy
A method of analyzing DNA and RNA contained in bodily fluids such as blood, urine,
or saliva. Cancer gene panel tests covered by insurance are tests using cancer
tissue and liquid biopsy using blood.
Expert panel
A panel of experts from various professions who provide medical interpretations of
the results of genome analyses. Based on the analysis results, the panel examines
whether there are drugs that can be expected to be effective on the basis of the
pathogenic variants that were detected and whether there is a possibility of
hereditary diseases. In the case of cancer, the expert panel includes a full-time
physician specializing in cancer pharmacotherapy, a physician specializing in
genetic medicine, medical staff with genetic counseling skills, a physician
specializing in pathology, and experts in molecular genetics and cancer genomic
medicine.

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