Cystic Fibrosis treatment — sometimes the specific variant matters

Great news for cystic fibrosis research! And also an interesting demonstration of how two different variants causing the same disease can end up having different clinical consquences.

Drug bests cystic-fibrosis mutation (Nature News)

In GET-Evidence (our genome/variant review system) we currently score each variant’s clinical effect individually. This tends to cause a lot of redundant labor — most of these scores (severity, treatability, and penetrance) are the same for all variants causing that disease. As we expand the system, one suggestion has been to add disease pages and have all variants refer to those pages for clinical importance scores. Generally this sounds like a good idea.

This case is an exception that shows how variant-level information will still be important. In this case CFTR-G551D is found to respond much more effectively to this treatment than CFTR-F508Del. (The latter is the one causing disease in most patients, unfortunately.) This means CFTR-G551D would score more highly on “treatability” than CFTR-F508Del. Even though both cause the same serious disease, the treatability of that disease depends on the particular genetic variant.

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