AI Article Synopsis
- The study looked at how well carrier screening for genetic diseases works when based on a person's ethnicity, which can sometimes be unclear or misunderstood.
- Researchers tested over 93,000 people and found that self-reported ethnicity didn’t always match their actual genetic ancestry, with 9% showing more than half of their ancestry from a different background.
- Because of this mismatch, many people who were at risk for genetic diseases were missed in the screening, which means not everyone gets fair access to reproductive health care.
Article Abstract
Purpose: Carrier status associates strongly with genetic ancestry, yet current carrier screening guidelines recommend testing for a limited set of conditions based on a patient's self-reported ethnicity. Ethnicity, which can reflect both genetic ancestry and cultural factors (e.g., religion), may be imperfectly known or communicated by patients. We sought to quantitatively assess the efficacy and equity with which ethnicity-based carrier screening captures recessive disease risk.
Methods: For 93,419 individuals undergoing a 96-gene expanded carrier screen (ECS), correspondence was assessed among carrier status, self-reported ethnicity, and a dual-component genetic ancestry (e.g., 75% African/25% European) calculated from sequencing data.
Results: Self-reported ethnicity was an imperfect indicator of genetic ancestry, with 9% of individuals having >50% genetic ancestry from a lineage inconsistent with self-reported ethnicity. Limitations of self-reported ethnicity led to missed carriers in at-risk populations: for 10 ECS conditions, patients with intermediate genetic ancestry backgrounds-who did not self-report the associated ethnicity-had significantly elevated carrier risk. Finally, for 7 of the 16 conditions included in current screening guidelines, most carriers were not from the population the guideline aimed to serve.
Conclusion: Substantial and disproportionate risk for recessive disease is not detected when carrier screening is based on ethnicity, leading to inequitable reproductive care.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521993 | PMC |
| http://dx.doi.org/10.1038/s41436-020-0869-3 | DOI Listing |
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