PROJECT NARRATIVE Recent progress in complex trait genetics, coupled with the technical ability to generate accurate genome-wide genotypes from single-cell input, has made it possible to genetically screen embryos for common polygenic traits and disease risk. However, little empirical work has been done to quantify the utility of polygenic embryo screening (PES), examine its ethical implications, and assess stakeholder perspectives. The proposed study is designed to provide the necessary empirical basis for informed ethical discussion.

PROJECT NARRATIVE Though any single rare disease is by definition uncommon, together these diseases affect nearly 30 million individuals in the United States, two-thirds of whom are children, and contribute significantly to morbidity, mortality, and healthcare costs. Exome and whole genome sequencing have the potential to provide a diagnosis to an estimated 25 to 50 percent of those patients struggling with undiagnosed rare diseases, but the downstream costs and benefits of this testing beyond diagnosis remain largely unknown.