Though the South Carolina Supreme Court said Quest was a healthcare provider, Williams can try to keep her case alive by arguing she's alleging ordinary negligence.
In a publication last week, researchers described efforts to improve in silico methods for investigating the pathogenicity of missense BRCA1/2 variants of unknown significance.
A study of more than 5,000 breast cancer patients found that multi-gene sequencing has rapidly replaced BRCA1/2-only tests, resulting in better pathogenic variant detection but also higher VUS rates.
Detection of pathogenic or likely pathogenic variants implicated in cardiomyopathy declines in individuals with self-reported ancestry from under-studied populations.
A Baylor study compared 25 algorithms in terms of their ability to characterize missense variants and found significant disagreement in their predictions.
Attendees at the recent AMP meeting grappled with issues brought to light in a lawsuit regarding the alleged negligent misclassification of a patient's genetic variant.
