Understanding the Implications of Expanded Carrier Screening for Genetic Conditions

Determining risk for passing on heritable conditions is an important component of preconception and prenatal care, and testing has traditionally targeted populations at risk for specific genetic conditions (e.g., hemoglobinopathies). However, the advent of technologies for expanded carrier screening (simultaneous screening for many diseases in large numbers of samples) has brought the temptation to screen for non–high-risk conditions, including those with unclear burdens of disease. Several professional societies have collaborated to issue a joint statement informing and guiding clinicians and laboratories.

• All carrier screening is optional and should be conducted based on patients' informed preference.

• Screening ideally should occur before c…