An expanded targeted preconception screening panel in Israel – findings and insights

We present the results of an Israeli expanded carrier screening panel (IL-ECSP) in a cohort of 10,115 Israeli participants. The IL-ECSP is a curated variant-based targeted preconception screening test, tailored to the diverse Israeli population, including its minorities. Utilizing this panel, we identified 2.6% at-risk couples, almost twice higher than those that would have been diagnosed using publicly funded tests. This test provides a more comprehensive decision-making tool for reproductive couples. In view of our findings, we recommend the Israeli National Health Care System to adopt a unified national Israeli preconception genetic test for the entire population. (By Hagit Baris Feldman, M.D., https://jmg.bmj.com/content/early/2024/05/05/jmg-2023-109629 )

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