ACMG publishes carrier screening guidance for pregnancy, preconception
The American College of Medical Genetics and Genomics has published a practice resource in Genetics in Medicine on carrier screening for autosomal recessive and X-linked conditions during pregnancy and preconception. Carrier screening began 50 years ago with programs targeted at specific ethnic groups, including Tay-Sachs disease in the Ashkenazi Jewish population and sickle cell disease in Black individuals. Cystic fibrosis became the first condition offered panethnic screening, followed by spinal muscular atrophy. Next-generation sequencing has since made it possible to identify variants across many genes at once, cheaply and at scale. ACMG's resource sets out a consistent, equitable approach for offering carrier screening to all individuals, with the goal of helping patients understand their reproductive risks and make informed decisions.
Standardized guidance could shape which genetic conditions patients are routinely offered screening for before or during pregnancy.
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].