Expanded carrier screening may significantly increase the detection of carrier status for severe genetic conditions, compared to current screening guidelines, according to a study published in the Aug. 16 issue of the Journal of the American Medical Association. Additionally, universal expanded carrier screening can help narrow the discrepancy in detection rates among different ethnicities, the authors say. “Expanded carrier screening revealed that many non-European racial/ethnic categories have a risk of profound or severe genetic disease that may not be detected by the guidelines in place at this time of analysis,” write the authors led by Imran Haque, Ph.D., vice president of scientific affairs at molecular testing firm Counsyl (South San Francisco, Calif.). Currently, carrier status is screened for a limited number of single-gene conditions, partially based on the patient’s ethnicity. Experts say that for a disorder to be included in recommended population-based carrier screening guidelines the condition must be relatively frequent, associated with well-characterized, predictive mutations, and uniformly severe clinically. Even still, there is a lack of consistency in national organizations’ recommendations—the American Congress of Obstetricians and Gynecologists (ACOG) only recommends universal screening for cystic fibrosis, while the American College of Medical Genetics and Genomics (ACMG) recommends both cystic fibrosis […]