Rare Disease Report

Understanding Genetics to Develop Future Treatments for Rare Cancers

AUGUST 17, 2018
Rare Disease Report® Editorial Staff
At the American Society of Clinical Oncology (ASCO) 2018 annual meeting in Chicago, Illinois, Pauline Funchain MD, associate staff member in the Taussig Cancer Institute at the Cleveland Clinic, explains how better understanding of genetics can help shape future treatments for rare cancers.
 
Interview Transcript (modified slightly for readability):

Funchain: I think whenever you get into genetics, you see a couple of promising places. I think this is a place where genetics and rare diseases really overlap because when you look at these, you have a very defined biology. When you have a very defined biology, it can get you to new treatments—that can take time.

One of the really exciting presentations at this ASCO meeting was on the LOXO-292 drug for RET fusions, and all of that work started with a very rare disease called multiple endocrine neoplasia type 2 (MEN2), a predisposition to medullary thyroid cancer, pheochromocytomas, and other sorts of rare cancers. The gene for that, the RET gene, was discovered 25 years ago in 1993. Now, exactly 25 years later, we have a targeted drug that had this amazing 77% response rate, very little side effects, and a durable response.

It does take time, but I think exploring those options, really defining biologies that you see in studies like this where you look at genetics, you can get new therapies. The other side to it is when you look at a hereditary predisposition to cancer, you now have an opportunity—and I think this is 1 of the most important clinical points—to potentially save lives, to catch cancer early, get it out before it becomes metastatic and is endangering someone’s life or [becomes] fatal. Why deal with cancer and all of the things you have to deal with if you can catch it earlier or maybe even prevent it?   
 
                                                            


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