At the National Society of Genetic Counselors annual meeting, a number of clinicians said they conduct their own investigations of variants in clinical lab reports.
A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.
The development is a positive for plaintiff Amy Williams, who has said she hopes her lawsuit will spur greater accountability and transparency among genetic testing labs.
Investigators reported on efforts to help labs better implement guidelines and measure disease associations, and to create shared languages for variants across different databases.
Franklin, an AI-driven variant classification tool, is helping Sanford Imagenetics reduce variants of unknown significance in its new ACMG-59 genotyping test.
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.
