Rare Disease Report

Zachary Spigelman, MD: Genetic Tests vs Enzymatic Tests for Gaucher Disease

FEBRUARY 05, 2016

The genetic tests looking for the mutations can define who the carrier state is. It’s yet to be determined whether the enzymatic state will mimic the genetic state, but once the diagnosis is made within the family, then the genetics can be assessed subsequently. Will the genetics supersede the enzymatic which will supersede the phenotypic? In other words, will the genetics be the gold standard of screening? The answer is no, and I can give many reasons, but the effectiveness of the expression of the enzyme can actually dramatically change, depending on the genetics, no matter what they are. So my guess is, yet to be diagnosed and assessed, would be patients with normal genetics yet epigenetic effects on this enzyme in other words, diminished production of the enzyme with a normal gene. And those populations I think will be found with these screenings that we have for spleen enlargement or something of that nature. So genetics, I think, will define carrier state but will not define disease state.

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