Herasight provides an embryo‑screening platform that uses ultra‑low‑pass whole‑genome sequencing combined with imputed genotype data to deliver both monogenic carrier detection and ancestry‑aware polygenic risk scores for complex diseases. The system integrates parental medical history, calibrates scores across diverse ancestries, and presents results through a secure web dashboard with optional genetic‑counselor support for IVF patients and fertility clinics.
Funding
Funding not disclosed
Founders
Product
Problem
Prospective parents undergoing IVF lack reliable, ancestry‑aware genetic information about their embryos. Existing carrier screens often miss essential genes or do not incorporate family medical history, and polygenic risk scores are typically validated only on unrelated populations, leading to inaccurate disease‑risk predictions for embryos that are future siblings.
Solution
Herasight delivers a comprehensive embryo‑screening platform that combines ultra‑low‑pass whole‑genome sequencing (ImputePGTA) with rigorously validated polygenic risk scores. The pipeline generates high‑accuracy genotype calls and imputes genome‑wide variants, enabling both monogenic carrier detection and quantitative risk assessment for complex diseases. Scores are calibrated across diverse ancestries and verified through within‑family validation, ensuring that risk differences between sibling embryos are meaningful. Family medical history is incorporated into the predictive models to refine individual risk estimates. Results are presented through a secure web dashboard and accompanied by professional genetic counseling to help couples interpret and act on the information.
Target Audience
The primary customers are prospective parents undergoing IVF, fertility clinics, and reproductive‑health professionals (genetic counselors, reproductive endocrinologists) seeking clinically validated embryo genetic screening.
Features
- Ultra‑low‑pass sequencing (≈0.5× coverage) with proprietary imputation algorithms (ImputePGTA) achieving high‑precision embryo genotyping.
- Polygenic risk scoring pipeline validated on sibling cohorts, providing ancestry‑aware disease‑risk estimates for conditions such as Alzheimer’s, schizophrenia, type 2 diabetes, cancers, and autism.
- Integrated carrier‑screen panel aligned with ACOG and ACMG guidelines, including mandatory genes (e.g., CFTR, SMN1) and optional secondary findings (e.g., BRCA1/2).
- Family‑history integration module that adjusts polygenic scores based on parental disease history for more personalized risk projections.
- Cross‑ancestry calibration using advanced statistical techniques to maintain predictive performance for non‑European families.
- Secure, HIPAA‑compliant cloud infrastructure with encrypted data transfer and role‑based access controls.
- Interactive web tools (embryo risk simulator, IVF outcome calculator) and optional genetic‑counselor support for result interpretation.