Herasight Algorithm Enables Global Polygenic Embryo Testing Via Routine IVF Procedure

Herasight has announced a significant advancement in reproductive technology, making polygenic embryo testing for intelligence and various diseases accessible to parents globally through a routine in-vitro fertilization (IVF) test. The company's new ImputePGTA algorithm integrates with preimplantation genetic testing for aneuploidy (PGT-A), a procedure already utilized in approximately 60% of U.S. IVF cycles and widely available worldwide. "Today parents can, for the first time, access polygenic embryo testing for IQ and many diseases through a routine test (PGT-A) done worldwide and in 60% of US IVF cycles," stated Alex Strudwick Young, a key figure at Herasight, emphasizing the global reach of this innovation.

The ImputePGTA algorithm addresses a critical barrier to widespread polygenic screening by reconstructing an embryo's full genome using parental whole-genome sequencing combined with the sparse data from standard PGT-A tests. This method eliminates the need for specialized, expensive embryo sequencing labs, which were previously a major limitation for access to preimplantation genetic testing for polygenic conditions (PGT-P). Herasight's approach allows IVF clinics to integrate polygenic screening without additional operational burden, leveraging existing infrastructure.

Herasight validated ImputePGTA through extensive simulations, downsampled real data, and six real-world cases across four families, demonstrating high accuracy in genetic reconstruction. The algorithm achieved a dosage correlation of 0.96 for genetic variants and an average error of just 0.16 standard deviations for polygenic scores when compared to born children. This rigorous validation ensures that the reconstructed embryo genomes provide reliable data for predicting disease risks and traits.

The technology offers screening for 17 diseases and cognitive ability, aiming to provide parents with more comprehensive information to guide embryo selection. By making PGT-P more accessible, Herasight seeks to empower parents to make informed choices that could potentially reduce the risk of polygenic diseases in their future children. The company emphasizes that its genetic predictors are rigorously validated within families, which is crucial for embryo selection.

While the introduction of polygenic testing for traits like IQ has sparked ethical discussions, with some critics likening it to "eugenics 2.0," Herasight maintains a focus on scientific rigor and ethical considerations. The company provides extensive genetic counseling to help parents understand complex genetic insights within their unique family context. Herasight's mission is to make impactful genetic insights accessible, prioritizing research and validation to improve people's lives.