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.
Elisha Cooke-Moore, from a small town in Oregon, claims her doctors never showed her the test report or offered her genetic counseling to explain the results.
Despite years of experience of returning genetic test results, clinicians and researchers are still faced with many questions, such as what to do about VUS and secondary findings.
