Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kristjan E KaseniitImran S HaqueJames D GoldbergLee P ShulmanDale Muzzey

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

Substantial and disproportionate risk for recessive disease is not detected when carrier screening is based on ethnicity, leading to inequitable reproductive care.

Keyphrases

healthcare
palliative care
intellectual disability
quality improvement
clinical practice
gene expression
affordable care act
genome wide association study
data analysis