Genetic medicine is accelerating in Japan

Abstract

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.

BRCA testing and Japanese original testing criteria for hereditary breast and ovarian cancer covered by public health insurance

“…. A recent large single institution study byHayashi et al reported that 43% of 868 breast cancer patients were potentially eligible for BRCA testing under the new public insurance criteria, which is similar to the ndings of the present study(Hayashi et al 2022). Additionally, several studies reported an association between young onset age and BRCA pathogenicity(Okano M et al 2021;Momozawa Y et al 2018;Arai M et al 2018).…”

Significance of the Multi-gene Panel myRisk in Japan

“…Approximately 10 years after the emergence of MGPT, various commercial panels are being developed and others are widely used in clinical practice (15), especially in the United States. Regarding genetic medicine in Japan, BRACAnalysis was indicated for patients with breast and ovarian cancer who met certain criteria in 2020 (16). However, the cost of MGPT for patients is not covered by the Japanese national health insurance and remains expensive.…”

“…In addition, Li et al (20) reported that it was costeffective to assume that PVs are successfully identified using MGPT, based on which appropriate medical management can be selected (prophylactic resection, surveillance with magnetic resonance imaging). In 2020, BRACAnalysis began to be covered by the national health insurance for patients who have already developed primary breast or ovarian cancer, and meet certain criteria for HBOC (16). Therefore, BRACAnalysis is currently more accessible than MGPT for HBOC-suspected cancer patients.…”

The Effects of National Insurance Coverage Expansion and Genetic Counseling’s Role on BRCA1/2 Mutation Tests in Breast Cancer Patients

“…Therefore, the strength of gene mutation test recommendations remains low, and BRCA1/2 mutation tests are not recommended to all patients meeting the NCCN criteria but only to those who can afford them financially. An absence of NIC is also observed in Vietnam and Singapore, where patients may face similar financial challenges [14]. Conversely, Japan, akin to Korea, provides NIC for BRCA1/2 mutation tests.…”