Genetic medicine is accelerating in Japan

Saori Hayashi,Masaya Kai,Masafumi Nakamura,Mai Yamada,Yuka Takao,Makoto Kubo,Takafumi Morisaki,Kazuhisa Kaneshiro,Akiko Shimazaki,Sawako Shikada

doi:10.1007/s12282-022-01342-4

Abstract

BackgroundIn 2018, BRACAnalysis® was covered by medical insurance in Japan as a companion diagnostic test for the poly ADP-ribose polymerase inhibitor olaparib. In April 2020, eligibility for BRCA1/2 genetic testing was expanded to the diagnosis of hereditary breast and ovarian cancer syndrome, and medical management including prophylactic surgery and surveillance were covered by public insurance for BRCA1/2 mutation carriers who developed breast or ovarian cancer. The amount of BRCA1/2 genetic testing has been increasing recently, but the number of subjects and the impact of testing for patients’ outcomes remain unclear.Patients and methodsThis study explored the potential number of patients who will be eligible for new insurance coverage for BRCA1/2 genetic testing. We analyzed 868 patients from 938 surgeries between January 2014 and September 2020 from our database.ResultsOverall, 372 patients (43%) were eligible for new insurance coverage for BRCA1/2 genetic testing. The most common category was family history of breast or ovarian cancer within third-degree relatives. We found that 202 patients (23%) had family history of breast or ovarian cancer. In addition, the progression-free survival was significantly lower in triple-negative breast cancer patients aged 60 years or younger compared with the other patients (P = 0.0005).ConclusionThe genetic medicine for primary breast cancer patients with BRCA1/2 germline mutation is accelerating rapidly in Japan. Therefore, establishing a system for the genetic medicine would be urgent.

Highlights

5–10% of all breast cancers were reported to be inherited [1,2,3]
A previous study reported no significant differences in OS or distant disease-free survival between breast cancer patients with or without BRCA1/2 mutations [8, 9]
Sex, family history of cancer within third-degree relatives, history of cancer, menopausal status, preoperative treatment, TNM stage classification, hormone receptor (HR) status, HER2 status, and postoperative treatment were recorded in the database

Summary

Introduction

5–10% of all breast cancers were reported to be inherited [1,2,3]. Since the identification of BRCA1 in 1994 [4] and BRCA2 in 1995 [5], various studies of hereditary breast and ovarian cancer (HBOC) have progressed rapidly. A previous study reported no significant differences in OS or distant disease-free survival between breast cancer patients with or without BRCA1/2 mutations [8, 9]. In April 2020, eligibility for BRCA1/2 genetic testing was expanded to the diagnosis of hereditary breast and ovarian cancer syndrome, and medical management including prophylactic surgery and surveillance were covered by public insurance for BRCA1/2 mutation carriers who developed breast or ovarian cancer. Patients and methods This study explored the potential number of patients who will be eligible for new insurance coverage for BRCA1/2 genetic testing. Results Overall, 372 patients (43%) were eligible for new insurance coverage for BRCA1/2 genetic testing. Conclusion The genetic medicine for primary breast cancer patients with BRCA1/2 germline mutation is accelerating rapidly in Japan. Establishing a system for the genetic medicine would be urgent

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