variants of unknown significance

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.

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. 

A high-profile, independent committee is considering the liability issues impacting labs as genetic testing increasingly becomes integrated into patient care.

Multiple variant databases are creating competition among groups that disagree on how to advance the most scientifically robust and sustainable sharing model.