variants of unknown significance

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.

Two speakers at the National Society of Genetic Counselors annual meeting discussed how often genetic variants are reclassified and how that affects patients.

Additional studies and reanalyses can reclassify variants of unknown significance, speakers at the National Society of Genetic Counselors meeting said.

All the Uncertainty

Variants of unknown significance don't give patients the answers they are seeking, the Guardian writes.

One paper involving experts from Myriad Genetics and another from Invitae added fresh data to a contentious debate over the use of public variant databases.

In Williams v Quest/Athena, a federal district court judge has asked the highest state court to clarify if a genetic testing lab is a licensed healthcare provider.

This Week in PLOS

In PLOS this week: analysis of viral sequences from human blood samples, gut microbiomes of heart failure patients, and more.

Judge Margaret Seymour held a hearing to better understand the facts of the case before deciding whether it should go forward.

In a new AMP working group project, labs can volunteer to compare their interpretation of challenging variants to help identify where and how the guidelines might be improved.

Experts pointed out the lack of clarity in professional standards and regulations when it comes to dealing with genetic variation in patient care. 

Pages

Using DNA to sketch crime victims might not be a great idea, the NYTimes says.

Science has its own problem with sexual harassment. What do we do with the research these abusers produce, Wired asks.

Senate Republicans led by Senator Rand Paul (R-KY) are trying to change how the government funds basic research, reports ScienceInsider.

In Science this week: combining genomics and ecology to better understand the effects of natural selection on evolution, and more.