I am proud to share a research publication I contributed to: Expanded targeted preconception screening panel in Israel: findings and insights, published in the Journal of Medical Genetics.
The core idea is simple and important: family planning decisions are better when couples have access to accurate, population-relevant genetic information before pregnancy.
Traditionally, carrier screening has often relied on ethnicity-based recommendations. That approach can help, but it also depends on self-reported background and may miss risk in diverse or mixed populations. In this study, an expanded targeted Israeli carrier screening panel was evaluated across more than 10,000 samples. The panel covered 1,487 variants across 357 autosomal recessive and X-linked genes.
The finding that stayed with me most: among the at-risk couples identified, nearly half would not have been detected by the existing ethnicity-based screening paths described in the paper.
That matters because more complete detection can give more families informed reproductive choices. It is also a reminder that good technology is not only about building systems; it is about building systems that make knowledge useful at the right moment.
For me, this work sits exactly at the intersection I care about: science, data, software, and human impact. I hope we continue to collect better population data and make data-based screening approaches relevant to couples worldwide.
Publication links: