“Multiple patients, all of whom were of African or unspecified ancestry, received positive reports, with variants misclassified as pathogenic on the basis of the understanding at the time of testing. Subsequently, all reported variants were recategorized as benign. The mutations that were most common in the general population were significantly more common among black Americans than among white Americans (P<0.001). Simulations showed that the inclusion of even small numbers of black Americans in control cohorts probably would have prevented these misclassifications. “
https://pubmed.ncbi.nlm.nih.gov/27532831/
The post Genetic Misdiagnoses and the Potential for Health Disparities appeared first on Center for Genomic Interpretation.
“Multiple patients, all of whom were of African or unspecified ancestry, received positive reports, with variants misclassified as pathogenic on the basis of the understanding at the time of testing. Subsequently, all reported variants were recategorized as benign. The mutations that were most common in the general population were significantly more common among black Americans than among white Americans (P
The post Genetic Misdiagnoses and the Potential for Health Disparities appeared first on Center for Genomic Interpretation.