The Human Cost of Ignoring DPD Deficiency | PGX For Pharmacists

DYPD is a gene that provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD). This enzyme plays very important in breaking down a substance called uracil, which is found in our DNA and RNA. Mutations in the DYPD gene can lead to decreased or absent DPD activity, which if you think about it can cause a buildup of uracil in the body. 
If someone is DPD deficiency it can make it difficult for the body to process certain chemotherapy drugs and can lead to severe side effects, such as nerve damage, GI problems, and even death. Genetic testing before being placed on a chemo agent, to see if there is a DPD deficiency is vital. 
According to Advocates for Universal DPD/DPYD Testing (AUDT), Europe is becoming the standard of care for testing for this gene and only in some selected institutions in the US the testing it being done. 
AUDT is made up of a group of patient advocates and medical professionals who are seeking to improve treatment outcomes for patients that are preparing to receive chemotherapy based on fluoropyrimidine drugs. One of the founders of this non-profit organization, AUDT, Karen Merritt is our guest today. She lost her mother in 2014 due to being DPD deficient and after getting her first infusion of 5FU. Karen dedicated herself to advocating and raising awareness about pre-testing for DPD deficiency before fluoropyrimidine chemotherapy administration to reduce unnecessary suffering.

Resources: https://test4dpd.org/about-us/

Disclaimer: These are my personal views and opinions, and I am not speaking on behalf of Castle Biosciences, Inc.