Genetic medicine is accelerating in Japan

• Published in: Breast cancer (Tokyo, Japan) Vol. 29; no. 4; pp. 659 - 665
• Main Authors: Hayashi, Saori, Kubo, Makoto, Kaneshiro, Kazuhisa, Kai, Masaya, Yamada, Mai, Morisaki, Takafumi, Takao, Yuka, Shimazaki, Akiko, Shikada, Sawako, Nakamura, Masafumi
• Format: Journal Article
• Language: English
• Published: Singapore Springer Nature Singapore 01.07.2022
• Subjects: Cancer Research; Medicine; Medicine & Public Health; Oncology; Original; Original Article; Surgery; Surgical Oncology; Hereditary breast and ovarian cancer syndrome; BRCA; Olaparib; Genetic testing; Genetic medicine
• ISSN: 1340-6868; 1880-4233
• DOI: 10.1007/s12282-022-01342-4

Background In 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 methods This 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. Results Overall, 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). Conclusion The 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.