TY - JOUR
T1 - Screening for autosomal recessive and X-linked conditions during pregnancy and preconception
T2 - a practice resource of the American College of Medical Genetics and Genomics (ACMG)
AU - ACMG Professional Practice and Guidelines Committee
AU - Gregg, Anthony R.
AU - Aarabi, Mahmoud
AU - Klugman, Susan
AU - Leach, Natalia T.
AU - Bashford, Michael T.
AU - Goldwaser, Tamar
AU - Chen, Emily
AU - Sparks, Teresa N.
AU - Reddi, Honey V.
AU - Rajkovic, Aleksandar
AU - Dungan, Jeffrey S.
N1 - Publisher Copyright:
© 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.
PY - 2021/10
Y1 - 2021/10
N2 - Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay–Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously. Since the phrase “expanded carrier screening” is nonspecific, there is a need to define carrier screening processes in a way that will allow equitable opportunity for patients to learn their reproductive risks using next-generation sequencing technology. An improved understanding of this risk allows patients to make informed reproductive decisions. Reproductive decision making is the established metric for clinical utility of population-based carrier screening. Furthermore, standardization of the screening approach will facilitate testing consistency. This practice resource reviews the current status of carrier screening, provides answers to some of the emerging questions, and recommends a consistent and equitable approach for offering carrier screening to all individuals during pregnancy or preconception.
AB - Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay–Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously. Since the phrase “expanded carrier screening” is nonspecific, there is a need to define carrier screening processes in a way that will allow equitable opportunity for patients to learn their reproductive risks using next-generation sequencing technology. An improved understanding of this risk allows patients to make informed reproductive decisions. Reproductive decision making is the established metric for clinical utility of population-based carrier screening. Furthermore, standardization of the screening approach will facilitate testing consistency. This practice resource reviews the current status of carrier screening, provides answers to some of the emerging questions, and recommends a consistent and equitable approach for offering carrier screening to all individuals during pregnancy or preconception.
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U2 - 10.1038/s41436-021-01203-z
DO - 10.1038/s41436-021-01203-z
M3 - Article
C2 - 34285390
AN - SCOPUS:85111689578
SN - 1098-3600
VL - 23
SP - 1793
EP - 1806
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 10
ER -