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.

The Israeli biotechnology firm hopes that a successful outcome of the study with Centre Léon-Bérard will raise its profile among oncologists.

Detection of pathogenic or likely pathogenic variants implicated in cardiomyopathy declines in individuals with self-reported ancestry from under-studied populations.

The court's determination is critical to deciding if Williams v Quest/Athena can advance or if it must be dismissed on statute of repose grounds. 

The clinicals labs contributing to the database are adding more case-level data and focusing on outlier interpretations.

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.

This Week in Science

In Science this week: intellectual property experts argue patent battles such as the one over CRISPR are wasteful, and more.

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.

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The Atlantic reports that genetic counselors are coping with an influx of patients seeking advice on their direct-to-consumer genetic test results.

A small study finds differences between three genomic prostate cancer tests, Medscape reports.

In Nature this week: shared genetic architecture for asthma and allergic diseases, and more.

A survey of Canadians finds them to be divided on genetically modified food, the Ottawa Citizen reports.