variants of unknown significance

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.

Been Reclassified

The New York Times reports on the shifting interpretations of what some genetic variants mean over time.

Investigators reported on efforts to help labs better implement guidelines and measure disease associations, and to create shared languages for variants across different databases.

The researchers said their findings could help classify BRCA1 variants, particularly one whose impact on cancer risk is currently not clear.

Franklin, an AI-driven variant classification tool, is helping Sanford Imagenetics reduce variants of unknown significance in its new ACMG-59 genotyping test.

Not Always an Answer

Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.

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.

Pages

 Senator Lamar Alexander (R-Tenn.), who chairs the Senate health committee, will be retiring at the end of his term, Stat News reports.

UCSF researchers find that having two X chromosomes may contribute to women's longer lifespans, according to Discover's D-brief blog.

The Wall Street Journal reports on the US Centers for Disease Control and Prevention's use of genetic approaches to study foodborne illnesses.

In PNAS this week: immune cell profiling of wild baboons by social status, metabolomics profiling of esophageal tumors, and more.