23 Questions
What is the main focus of Module 1016 Pharmacogenomics?
Understanding the application of pharmacogenomics in clinical practice
What is the significance of the CFTR gene in the context of Genomic Medicine?
It is a crucial discovery with impact on the CF population
What makes up a person's genome?
3.2 billion bases of DNA
What percentage of the genome is the same in everyone?
99.9%
What does pharmacogenomics study?
Variations between individuals in the genome
What is the role of gene in making up an individual?
Running the body
What is the main cause of DPD deficiency?
Variants of the DPD gene
Which of the following toxicities is not associated with the treatment of patients with DPD deficiency?
Anemia
Which gene is associated with increased toxicity in colorectal cancer patients treated with Irinotecan?
UGT1A1
Which variant tested on the NHS is associated with a 50% DPD activity and requires a 50% dose reduction or alternative therapy?
c.1905+ 1G>A
What is the consequence of NUDT15 gene mutations in Acute lymphoblastic Leukemia patients treated with 6-mercaptopurine and thioguanine?
Increased toxicity
Which drug is associated with decreased efficacy in breast cancer patients with defects in the CYP2D6 gene?
Tamoxifen
What should be considered when contemplating supportive care medications, according to the information provided?
Panel testing vs single gene-drug hotspot testing
What is the association of G6PD gene mutations in hematological cancer patients treated with Rasburicase?
Increased toxicity
Which pharmacogenetic test is associated with increased toxicity in acute lymphoblastic leukemia patients treated with 6-mercaptopurine and thioguanine?
NUDT15
What is the main focus of Genomics in rare disease diagnosis?
Comparison of whole genome sequencing (WGS) of patients with the same condition
Which cells are affected by Cystic Fibrosis (CF)?
Cells producing mucus, sweat, and digestive juices
When was the CFTR gene discovered?
In the 1980s
How many amino acids is the CFTR channel composed of?
1480
What is the main focus of Pharmacogenomics?
How a patient's genome influences their response to medicines
Which of the following is a CFTR modulator therapy used to treat CF?
Kalydeco® (ivacaftor)
What is the foundation of national pharmacogenetic testing?
DPYD gene testing
Which cancers are predominantly prescribed DPD-related medications?
Gastrointestinal, breast, and head and neck cancers
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.
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.
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