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Genetic medicine is accelerating in Japan
Saori Hayashi1,2, Makoto Kubo3,4, Kazuhisa Kaneshiro1
1Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi Higashi-ku, Fukuoka, 812-8582, Japan.
Breast Cancer (Tokyo, Japan)
|February 22, 2022
Summary
In Japan, expanded insurance coverage for BRCA1/2 genetic testing identified 43% of patients as eligible, highlighting the need for improved systems for hereditary breast and ovarian cancer management.
Area of Science:
- Oncology
- Genetics
- Health Services Research
Background:
- Japan introduced insurance coverage for BRCA1/2 genetic testing in 2020, expanding access for hereditary breast and ovarian cancer syndrome.
- This coverage aims to support medical management, including prophylactic surgery and surveillance for mutation carriers.
Purpose of the Study:
- To determine the number of patients eligible for new insurance coverage for BRCA1/2 genetic testing in Japan.
- To assess the impact of expanded genetic testing eligibility on patient outcomes.
Main Methods:
- Analysis of 868 patients from 938 surgeries between January 2014 and September 2020.
- Evaluation of eligibility for new insurance coverage based on established criteria.
Main Results:
- 43% of analyzed patients (372/868) were eligible for new insurance coverage.
- Family history of breast or ovarian cancer within third-degree relatives was the most common eligibility category.
- Triple-negative breast cancer patients aged 60 or younger showed significantly lower progression-free survival.
Conclusions:
- BRCA1/2 germline mutation-targeted genetic medicine for primary breast cancer is rapidly advancing in Japan.
- Urgent establishment of a comprehensive system for genetic medicine is necessary to support this acceleration.