Carrier screening tests are used to determine if a person carries a gene variant known to cause a genetic condition, and allows them to determine the risk of passing the condition to their children. The aim of reproductive carrier screening is to help people make informed reproductive decisions.

We looked at carrier screening programs for four genetic health conditions: cystic fibrosis (CF), fragile X syndrome (FXS), hemoglobinopathies and thalassemia, and spinal muscular atrophy (SMA). CF is a progressive condition that affects the production of mucus, sweat, and digestive enzymes and damages a person’s lungs, digestive system, and other organs. FXS causes intellectual and developmental disability. Hemoglobinopathies and thalassemia affect the structure or production of hemoglobin found in red blood cells, and includes conditions such as sickle-cell anemia. SMA causes muscles to become weak and waste away.

This health technology assessment looked at how safe, effective, and cost-effective carrier screening programs for CF, FXS, hemoglobinopathies and thalassemia, and SMA are for people who are considering a near-future pregnancy (preconception) or who are pregnant (prenatal). It also looked at the budget impact of publicly funding carrier screening programs and at the experiences, preferences, and values of people for carrier screening.