Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

Maggie WestemeyerJennifer SaucierJody WallaceSarah A PrinsAparna ShettyMeenakshi MalhotraZachary P DemkoChristine M EngLouis WecksteinRobert BoostanfarMatthew RabinowitzPeter BennDianne Keen-KimPaul R Billings

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Compared with standard screening, NGS-based CS provides additional information that may impact reproductive choices. Pan-ethnic CS leads to substantially increased identification of at-risk couples. These data support offering NGS-based CS to all reproductive-aged women.

Keyphrases

polycystic ovary syndrome
healthcare
big data
health information
type diabetes
pregnant women
metabolic syndrome
intimate partner violence
pregnancy outcomes
skeletal muscle
social media
breast cancer risk
bioinformatics analysis