How to deal with variants of unknown significance in clinical practice?

In clinical practice, dealing with variants of unknown significance (VUS) involves several steps.

First, the clinician assesses how well the gene associated with the variant fits with the patient’s symptoms. If it seems plausible, efforts are made to improve the pathogenicity score. This may include examining the inheritance of the variant, determining if it is de novo (new in the child and not present in the parents), or if it is found in family members with similar features.

In this interview with Prof Helen Firth, you will learn more about how she deals with VUS in her clinical practice in the United Kingdom.

Different countries may have different guidelines and policies to assess VUS. Let us know in the comments what differences and similarities from Helen’s talk you can spot in your context.