The Embryo Health Study: Prospective Longitudinal Analysis of Preimplantation Genetic Testing for Polygenic Disorders

What this Trial Is About

This research aims to understand how patients undergoing in vitro fertilization (IVF) perceive and are motivated to receive additional genetic information about their embryos, specifically concerning risks for polygenic disorders. It focuses on patients who are already having their embryos tested for chromosomal abnormalities (aneuploidies) and explores their interest in learning about other inherited disease risks through genetic counseling. The study involves patients planning IVF with preimplantation genetic testing for aneuploidies (PGT-A) and evaluates their choices and responses to receiving polygenic risk information (PGT-P). Patients who meet the criteria will be offered participation by their IVF doctor before starting ovarian stimulation. After consenting and genetic counseling, they can choose to receive PGT-A results first and then decide about PGT-P results, or get a combined comprehensive report covering both. The PGT-P report may include risk predictions for diseases such as Type 1 and Type 2 Diabetes, heart conditions, several cancers, and other hereditary diseases. Each patient will also provide saliva samples for genetic ancestry testing to better understand the accuracy and applicability of polygenic risk predictions based on ethnic background. Participants will be followed for up to two years, during which their interest in polygenic testing will be measured. Genetic counseling will address the benefits and limits of each test, and the study will gather data on patient choices and motivations. Information from embryo biopsies and saliva samples will be collected and analyzed. The study is observational and does not affect the standard IVF treatment. Overall, the study seeks to inform future use of genetic testing in embryo selection and patient decision-making.

Embryo Health Study