Explaining variants of uncertain significance – a guide for clinicians

VUSThe dreaded variant of uncertain significance. With the advent of next generation sequencing panels and exome sequencing, what used to be an occasional laboratory finding in epilepsy has now become a daily occurrence. Lab reports detailing multiple VUS findings for an individual patient have become a routine part of clinical practice. How do you, as a healthcare provider, explain the meaning and implications of VUS findings to patients and families in a way that is understandable to them?  Continue reading

Retiring the word “mutation” in clinical practice

Mutation. What images does the word conjure up for you? Genetic counselors have long avoided using this term in clinical practice due to its similarity to the word “mutant”, favoring instead the vague but people friendly term “changed gene”. In fact, there is a far more scientific reason for clinicians to avoid using the term “mutation”, and that is the definition of the word itself.  Continue reading

Introducing EpiGC – a guest post

School days, school days, dear old golden rule days. It has been over two decades since I completed my training as a genetic counselor, but there are several families that I will always remember and find myself frequently talking about when I train students or discuss counseling issues with colleagues. One of them was a young couple, both with mild intellectual disability and epilepsy, expecting their first child.

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