PPM - Carrier Screening (2024)-Description and References

Description and References

Pdf Summary

Carrier screening is a vital process for determining an individual's risk of being a carrier for inherited genetic conditions. This practice, endorsed by organizations such as the American College of Medical Genetics and Genomics (ACMG) and the American Congress of Obstetricians and Gynecologists (ACOG), has seen significant advancements and changes over time.<br /><br />Traditionally, carrier screening was based on ethnicity, but this approach faces challenges as many individuals have mixed or unknown ethnic backgrounds. With advancements in genomic technologies, expanded carrier screening is becoming increasingly common. ACMG advocates for using the term "carrier screening" and emphasizes a tiered, ethnic-neutral approach to ensure inclusivity.<br /><br />Carrier screening is typically categorized into three tiers, based on the prevalence and severity of conditions. Tier 1, recommended universally, includes screening for conditions like cystic fibrosis, spinal muscular atrophy, and thalassemia. Tier 2 encompasses conditions with a moderate to severe phenotype and a carrier frequency of 1 in 100 or greater, as recommended by ACOG. Tier 3 includes conditions with a frequency of at least 1 in 200. A consistent approach across practices, as recommended by ACOG, ensures these screenings' effectiveness.<br /><br />Overall, the evolution of carrier screening reflects a move toward more comprehensive and inclusive practices, leveraging advanced genomic technologies to benefit diverse populations. Adequate pre and post-test counseling remains crucial to support individuals undergoing screening. The guidelines and recommendations provided by ACMG and ACOG aim to streamline these processes, supporting healthcare professionals in offering appropriate and effective genetic counseling and testing.

Keywords

carrier screening

genetic conditions

ACMG

ACOG

genomic technologies

ethnic-neutral

cystic fibrosis

spinal muscular atrophy

thalassemia

genetic counseling