Pharmacogenomics in Clinical Practice
23 Questions
4 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

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.

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    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.

    More Like This

    Genomics and GWAS Quiz
    21 questions

    Genomics and GWAS Quiz

    DazzlingFreedom avatar
    DazzlingFreedom
    Digital Health
    354 questions

    Digital Health

    ReverentFigTree avatar
    ReverentFigTree
    Pharmacogenomics Lecture 1
    10 questions
    Use Quizgecko on...
    Browser
    Browser