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Questions and Answers
What is the main focus of Module 1016 Pharmacogenomics?
What is the significance of the CFTR gene in the context of Genomic Medicine?
What makes up a person's genome?
What percentage of the genome is the same in everyone?
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What does pharmacogenomics study?
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What is the role of gene in making up an individual?
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What is the main cause of DPD deficiency?
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Which of the following toxicities is not associated with the treatment of patients with DPD deficiency?
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Which gene is associated with increased toxicity in colorectal cancer patients treated with Irinotecan?
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Which variant tested on the NHS is associated with a 50% DPD activity and requires a 50% dose reduction or alternative therapy?
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What is the consequence of NUDT15 gene mutations in Acute lymphoblastic Leukemia patients treated with 6-mercaptopurine and thioguanine?
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Which drug is associated with decreased efficacy in breast cancer patients with defects in the CYP2D6 gene?
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What should be considered when contemplating supportive care medications, according to the information provided?
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What is the association of G6PD gene mutations in hematological cancer patients treated with Rasburicase?
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Which pharmacogenetic test is associated with increased toxicity in acute lymphoblastic leukemia patients treated with 6-mercaptopurine and thioguanine?
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What is the main focus of Genomics in rare disease diagnosis?
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Which cells are affected by Cystic Fibrosis (CF)?
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When was the CFTR gene discovered?
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How many amino acids is the CFTR channel composed of?
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What is the main focus of Pharmacogenomics?
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Which of the following is a CFTR modulator therapy used to treat CF?
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What is the foundation of national pharmacogenetic testing?
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Which cancers are predominantly prescribed DPD-related medications?
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Study Notes
- Genomics plays a significant role in rare disease diagnosis, comparison of whole genome sequencing (WGS) of patients with the same condition to reveal patterns, and targeted treatments.
- Cystic Fibrosis (CF) is an inherited disorder that affects the cells producing mucus, sweat, and digestive juices, damaging the lungs, digestive system, and other organs.
- CF was discovered in the 1980s, and therapy now targets genes dysfunctionalities.
- The CFTR gene was discovered in 1989, raising hope, identifying over 2000 mutations, and improving diagnosis and management of CF.
- CFTR is a phosphorylation-regulated Cl- channel composed of 1480 amino acids organized into five functional domains. Proper functionality of these domains is needed for channel activity.
- Pharmacogenomics deals with how a patient's genome influences how they respond to medicines.
- CFTR modulator therapies, such as Kalydeco® (ivacaftor), Orkambi® (lumicaftor/ivacaftor), Symkevi® (tezacafor/ivacaftor), and triple therapy (Kaftrio® - elexacafor/tezacaftor/ivacaftor), are used to treat CF.
- Pharmacogenetic testing, such as DPYD for Fluoropyrimidines, is the foundation of national pharmacogenetic testing. DPD, an enzyme coded for by the DPYD gene, plays a role in the metabolism of 5-fluorouracil, capecitabine, and tegafur, and is predominantly prescribed for gastrointestinal, breast, and head and neck cancers.
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Description
Explore the practical applications of pharmacogenomics (PGx) in clinical practice, with a focus on genomic variability in Cystic Fibrosis and key genes affecting safety in Oncology treatments. This lecture series provides an overview of genomics and its real-world applications.