Cancer & Chemo: Could DPYD testing save lives?

In today’s episode, Karen Merritt shares her personal journey of advocacy for DPD deficiency awareness following her mother's tragic experience with chemotherapy. The discussion delves into the importance of genetic testing for DPYD mutations before administering certain chemotherapy drugs, the challenges in raising awareness among healthcare professionals, and ongoing advocacy efforts to include DPYD testing in national guidelines. The conversation highlights the critical need for patient education and informed decision-making in cancer treatment as well as updates in guidelines to ensure patient safety. Takeaways: Karen Merritt became an advocate after her mother's death due to DPD deficiency. DPD deficiency can lead to severe toxicity from chemotherapy drugs like 5-FU. DPYD is the gene that produces the DPD enzyme, and mutations in DPYD can lead to DPD deficiency. About 3-8% of people have a DPYD mutation. There is a push for standardizing DPD/DPYD testing in the U.S. healthcare system. Knowledge about DPYD status can prevent severe drug toxicity. Karen Merritt is a passionate and dedicated patient advocate who turned her personal tragedy into a mission to save lives. After losing her mother in 2014 due to fatal toxicity from her first infusion of 5-FU chemotherapy, a result of not being tested for DPD (dihydropyrimidine dehydrogenase) deficiency beforehand, Karen committed herself to raising awareness about the importance of pretesting for DPD deficiency before the administration of fluoropyrimidine-based chemotherapy.  Karen is a founding member of Advocates for Universal DPD/DPYD Testing (AUDT), an organization focused on promoting mandatory pretesting to ensure patient safety and prevent chemotherapy-induced toxicities & fatalities. She actively engages with healthcare professionals and institutions to emphasize the need for personalized cancer care that includes pretreatment DPD testing.   In addition to her work with AUDT, Karen serves as a Patient Representative for ClinGen PGx Working Group and the Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Collaborative Community. Her role in these groups reflects her commitment to improving clinical practices and standardizing testing protocols for better patient outcomes. Non-profit website is www.test4dpd.org We are also on LinkedIn and Facebook as Advocates for Universal DPD/DPYD Testing. X and instagram: test4dpd   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Why Don’t U.S. Guidelines Recommend DPYD Testing Before Chemotherapy? By Ellen Matloff for Forbes Advocates for Universal DPD/DPYD Testing or AUDT Additional information on DPD Deficiency from MedlinePlus Safety announcement: FDA highlights importance of DPD deficiency discussions with patients prior to capecitabine or 5FU treatment Information on Mayo Clinic Lab DPYD Full Gene Sequencing Test Dr. Anil Kapoor’s death after 5-FU Oregon Health & Science University Lawsuit Fight Colorectal Cancer Cancer Care Sequences® Listen to Episode 10-When is rare disease not so rare? to learn more about genetic discrimination and GINA Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

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