It's been a fascinating day at the yearly conference of the Israeli Society of Medical Genetics. I'm now even further convinced that a shift from invasive methods towards cfDNA analysis as first-line pregnancy screening is imminent. I'm glad I have the chance to be among the leaders of this revolution with Identifai Genetics.
I was especially encouraged by the first session, led by Prof. Yuval Yaron and Dr. Amihood Zinger, dealing with the advantages of prenatal WES/WGS. On top of its utility for point mutations, it’s also replacing CMA; it has an astonishingly high yield in cases with suggestive sonographic findings, and even when the indication is less clear. The current frontier in the field is prenatal WES/WGS in normal pregnancies, while addressing the PPV, variant interpretation, and partial penetrance. The growing support for prenatal WES/WGS is paving the way for responsible and ethical implementation of its cfDNA version.
Later on, the brilliant Dr. Shay Tzur from Emedgene, an Illumina Company described their AI solution to automatically report only the 1-2 most probable mutations from a complete genome analysis. This addresses both the interpretation challenge and the burden of human-based analysis and counseling, further supporting the feasibility of cfDNA-based genome-wide fetal screening.
p.s.
As I commented in the conference, people often say things like "eventually the baby was healthy," hinting that we are often too hasty with pregnancy termination. While true, I think that stating someone is "healthy" should be done carefully, as it depends on the follow-up length. For instance, an offspring with hereditary epilepsy can be healthy in a 20-year follow-up, and then suffer a sudden death (SUDEP) in their first seizure. This can be avoided with genetics. I prefer talking about *all* actionable findings, rather than focusing on pregnancy termination.
