Herasight launches NeuroRisk, an embryo test for rare damaging DNA variants
Herasight launches NeuroRisk, an embryo test for rare damaging DNA variants
The company offers to rank embryos during in vitro fertilization (IVF) by their aggregate burden of rare genetic changes. The approach is based on a study of children and adults that linked this burden to several diagnoses.
On October 8, Herasight chief scientist Tobias Wolfram announced the launch of NeuroRisk on X. The company describes it as an embryo test that identifies rare variants in genes that are particularly strongly conserved by natural selection.
A conventional polygenic score adds up the contributions of many common DNA variants. NeuroRisk measures a different signal: rare changes in genes that provide the instructions cells use to make proteins. Some variants cut those instructions short; others alter the protein’s structure. The less a particular gene tolerates damaging changes over evolutionary time, the more heavily such a change is weighted in the embryo’s overall score.
The critique of polygenic predictions for embryos addressed comparisons between genetically similar potential children based on many common variants. NeuroRisk proposes using a different input for the same procedure: rare damaging changes.
The calculation is based on a preprint by Herasight researchers and a coauthor at the University of California, Los Angeles. The study examined 3 523 children in the ABCD study of adolescent development and 302 421 adults in the US All of Us program. Among people carrying at least one rare protein-truncating variant in a gene particularly sensitive to damaging changes, the odds of a recorded diagnosis of intellectual disability, meaning persistent limitations in learning and independent daily functioning, were 3,09 times higher. The odds were 1,85 times higher for schizophrenia and 1,51 times higher for autism.
The authors also calculated that 79% of the weighted burden of these variants falls in genes outside existing catalogs of genes linked to developmental disorders and autism. In an analysis of 4 229 sibling pairs, the association with the combined outcome of autism, schizophrenia, or bipolar disorder persisted: the odds ratio was 1,83 within families and 1,27 across the full sample. This comparison tests whether the association holds among children who grew up in the same family.
The study measured these associations in children and adults. Herasight uses the burden calculated from population data to rank embryos before transfer.