Why We Need to Rethink Ethnicity-Based Genetic Testing

A recent study noted racial bias in the genetic databases that are important to furthering research in precision medicine. The data is skewed toward a European Caucasian population, which makes it difficult to interpret genetic variants in minority groups. As the U.S. population increasingly diversifies, we need to challenge ourselves to do better. A good place to begin is pregnancy, when nearly every woman in the U.S. is offered genetic carrier screening.

Carrier screening is the practice of testing of both mom and dad for inherited conditions that may be passed along to their baby. A pregnant woman is typically offered screening – for one condition, a few conditions or a panel – based upon her self-reported ethnic category. As an example, black patients are offered screening for sickle cell disease, Southeast Asian patients for thalassemias and Ashkenazi Jewish patients for a panel that includes Canavan and Tay-Sachs disease, among others. This approach is based on a public health model that factors cost and the availability of a reliable test into the screening equation. In the past few...