Israel's Health Ministry mistakenly excluded a genetic disease from the official list of conditions tested for in state-funded prenatal genetic testing, potentially affecting thousands of couples who may be unaware they are carriers, KAN News reported on Thursday.
Israel provides free genetic screening tests for couples planning to have children to see whether either partner carries genetic mutations that could endanger a fetus, according to the report.
Usually, the Health Ministry will provide a list of specific diseases that genetic institutes should test for before pregnancy. However, the ministry neglected to include a specific disease on this list, resulting in the omission of tests for the mutation, the report said.
The disease in question can cause impairments in speech, cognition, and concentration, KAN added.
Mistake recognized
The mistake reportedly affected genetic testing carried out between November 2024 and January 2025. It was identified by the Genetic Institute at Sheba Medical Center, which notified the Health Ministry, who corrected the mistake.
Following the discovery, the Health Ministry reportedly responded, "Out of the thousands of tests performed, 58 carriers were identified, but no couple was found in which both partners were carriers.”
The KAN report added that the Health Ministry also said it "immediately instructed genetic laboratories in hospitals and health funds to rectify the testing error. The mistake involved only one mutation in a specific variant of the disease included in the screening tests. Additionally, the ministry ordered all samples collected between November 2024 and January 2025 to undergo retroactive testing."