Pharmacogenomics in Clinical Practice
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Pharmacogenomics in Clinical Practice

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Questions and Answers

What is the main focus of Module 1016 Pharmacogenomics?

  • Understanding the application of pharmacogenomics in clinical practice (correct)
  • Identifying key genes compromising safety in Oncology treatments
  • Reviewing the discovery of the CFTR gene
  • Exploring the impact of genomics on Cystic Fibrosis
  • What is the significance of the CFTR gene in the context of Genomic Medicine?

  • It is a key gene compromising safety in Oncology treatments
  • It has no significant impact on the CF population
  • It is a crucial discovery with impact on the CF population (correct)
  • It plays a minimal role in pharmacogenomics
  • What makes up a person's genome?

  • 3.2 billion bases of DNA (correct)
  • Genomic medicine and pharmacogenomics
  • Proteins and amino acids
  • Variations between individuals
  • What percentage of the genome is the same in everyone?

    <p>99.9%</p> Signup and view all the answers

    What does pharmacogenomics study?

    <p>Variations between individuals in the genome</p> Signup and view all the answers

    What is the role of gene in making up an individual?

    <p>Running the body</p> Signup and view all the answers

    What is the main cause of DPD deficiency?

    <p>Variants of the DPD gene</p> Signup and view all the answers

    Which of the following toxicities is not associated with the treatment of patients with DPD deficiency?

    <p>Anemia</p> Signup and view all the answers

    Which gene is associated with increased toxicity in colorectal cancer patients treated with Irinotecan?

    <p>UGT1A1</p> Signup and view all the answers

    Which variant tested on the NHS is associated with a 50% DPD activity and requires a 50% dose reduction or alternative therapy?

    <p>c.1905+ 1G&gt;A</p> Signup and view all the answers

    What is the consequence of NUDT15 gene mutations in Acute lymphoblastic Leukemia patients treated with 6-mercaptopurine and thioguanine?

    <p>Increased toxicity</p> Signup and view all the answers

    Which drug is associated with decreased efficacy in breast cancer patients with defects in the CYP2D6 gene?

    <p>Tamoxifen</p> Signup and view all the answers

    What should be considered when contemplating supportive care medications, according to the information provided?

    <p>Panel testing vs single gene-drug hotspot testing</p> Signup and view all the answers

    What is the association of G6PD gene mutations in hematological cancer patients treated with Rasburicase?

    <p>Increased toxicity</p> Signup and view all the answers

    Which pharmacogenetic test is associated with increased toxicity in acute lymphoblastic leukemia patients treated with 6-mercaptopurine and thioguanine?

    <p>NUDT15</p> Signup and view all the answers

    What is the main focus of Genomics in rare disease diagnosis?

    <p>Comparison of whole genome sequencing (WGS) of patients with the same condition</p> Signup and view all the answers

    Which cells are affected by Cystic Fibrosis (CF)?

    <p>Cells producing mucus, sweat, and digestive juices</p> Signup and view all the answers

    When was the CFTR gene discovered?

    <p>In the 1980s</p> Signup and view all the answers

    How many amino acids is the CFTR channel composed of?

    <p>1480</p> Signup and view all the answers

    What is the main focus of Pharmacogenomics?

    <p>How a patient's genome influences their response to medicines</p> Signup and view all the answers

    Which of the following is a CFTR modulator therapy used to treat CF?

    <p>Kalydeco® (ivacaftor)</p> Signup and view all the answers

    What is the foundation of national pharmacogenetic testing?

    <p>DPYD gene testing</p> Signup and view all the answers

    Which cancers are predominantly prescribed DPD-related medications?

    <p>Gastrointestinal, breast, and head and neck cancers</p> Signup and view all the answers

    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.

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