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Japan woman seeks genetic testing for cancer risk
11 Aug
Summary
- Woman plans genetic testing application for hereditary cancer risk.
- Existing criteria allow testing for severe adult-onset diseases.
- HBOC affects 1 in 200-500 people, with 50% risk to offspring.
A 36-year-old woman from Osaka Prefecture, diagnosed with hereditary breast and ovarian cancer syndrome (HBOC), intends to apply for preimplantation genetic testing for monogenic disorders (PGT-M) in Japan as early as this fall. This procedure involves examining embryos created via in vitro fertilization for specific genetic mutations, aiming to prevent the transmission of severe inherited diseases to offspring.
The Japan Society of Obstetrics and Gynecology, which reviews such applications, had previously restricted PGT-M to conditions causing severe symptoms before adulthood. However, in 2022, they partially relaxed their criteria to include diseases that develop in adulthood, provided individual circumstances warrant it.
As of March this year, 148 applications have been received, with 133 approved under the broader interpretation, none of which were for HBOC. The woman, who developed breast cancer in 2022 and underwent PGT-M overseas in 2023, giving birth to her first child, hopes to expand options for those with HBOC in Japan.
HBOC, caused by mutations in BRCA1 or BRCA2 genes, affects an estimated 1 in 200 to 500 people in Japan and carries a 50% chance of inheritance by offspring. While increasing cancer risk, not all individuals with HBOC develop cancer. Public health insurance now covers risk-reducing surgeries in Japan.
