Podcast
Questions and Answers
What is the main focus of pharmacogenomics?
What is the main focus of pharmacogenomics?
How many bases make up a human genome?
How many bases make up a human genome?
Which statement best describes genomics?
Which statement best describes genomics?
What percentage of the human genome is the same in everyone?
What percentage of the human genome is the same in everyone?
Signup and view all the answers
What is the significance of the CFTR gene in Cystic Fibrosis?
What is the significance of the CFTR gene in Cystic Fibrosis?
Signup and view all the answers
What is the aim of pharmacogenetics in Oncology?
What is the aim of pharmacogenetics in Oncology?
Signup and view all the answers
What is the main focus of pharmacogenomics?
What is the main focus of pharmacogenomics?
Signup and view all the answers
Which therapy directly targets dysfunctional genes in cystic fibrosis?
Which therapy directly targets dysfunctional genes in cystic fibrosis?
Signup and view all the answers
What is the primary cause of severe damage to various organs in cystic fibrosis?
What is the primary cause of severe damage to various organs in cystic fibrosis?
Signup and view all the answers
What was an important milestone related to cystic fibrosis in 1989?
What was an important milestone related to cystic fibrosis in 1989?
Signup and view all the answers
Which condition would likely be considered for targeted treatments using genomics?
Which condition would likely be considered for targeted treatments using genomics?
Signup and view all the answers
What kind of mutations does Kalydeco® target in cystic fibrosis?
What kind of mutations does Kalydeco® target in cystic fibrosis?
Signup and view all the answers
What is the main function of CFTR in cystic fibrosis?
What is the main function of CFTR in cystic fibrosis?
Signup and view all the answers
Why is CF considered an inherited disorder?
Why is CF considered an inherited disorder?
Signup and view all the answers
Which application of genomics focuses on revealing patterns by comparing whole-genome sequences of patients with the same condition?
Which application of genomics focuses on revealing patterns by comparing whole-genome sequences of patients with the same condition?
Signup and view all the answers
What does pharmacogenetics primarily study?
What does pharmacogenetics primarily study?
Signup and view all the answers
What is the consequence of a CYP2D6 genotype on Tamoxifen efficacy?
What is the consequence of a CYP2D6 genotype on Tamoxifen efficacy?
Signup and view all the answers
Which gene mutation leads to increased toxicity with Irinotecan in colorectal cancer patients?
Which gene mutation leads to increased toxicity with Irinotecan in colorectal cancer patients?
Signup and view all the answers
What is the primary impact of a NUDT15 mutation on 6-mercaptopurine thioguanine therapy?
What is the primary impact of a NUDT15 mutation on 6-mercaptopurine thioguanine therapy?
Signup and view all the answers
Which of the following genetic variants is associated with acute lymphoblastic leukemia and increased toxicity from 6-mercaptopurine thioguanine?
Which of the following genetic variants is associated with acute lymphoblastic leukemia and increased toxicity from 6-mercaptopurine thioguanine?
Signup and view all the answers
What type of cancer is associated with the genetic variant UGT1A1 and its impact on Irinotecan therapy?
What type of cancer is associated with the genetic variant UGT1A1 and its impact on Irinotecan therapy?
Signup and view all the answers
Which gene mutation leads to acute haemolytic anemia with Rasburicase therapy in hematological cancers?
Which gene mutation leads to acute haemolytic anemia with Rasburicase therapy in hematological cancers?
Signup and view all the answers
What is mentioned as a pharmacogenetic test in the text?
What is mentioned as a pharmacogenetic test in the text?
Signup and view all the answers
Which enzyme deficiency is often caused by inherited variants of the DPYD gene?
Which enzyme deficiency is often caused by inherited variants of the DPYD gene?
Signup and view all the answers
Which adverse effects are associated with treating patients with DPD deficiency using specific medicines?
Which adverse effects are associated with treating patients with DPD deficiency using specific medicines?
Signup and view all the answers
Which gene is associated with sensitivity to Fluoropyrimidines due to specific variants mentioned in the text?
Which gene is associated with sensitivity to Fluoropyrimidines due to specific variants mentioned in the text?
Signup and view all the answers
Which percentage of dose reduction is recommended for DPD activity linked to the c.1679T>G variant?
Which percentage of dose reduction is recommended for DPD activity linked to the c.1679T>G variant?
Signup and view all the answers
What is the main cause of DPD deficiency as mentioned in the text?
What is the main cause of DPD deficiency as mentioned in the text?
Signup and view all the answers
Which cancer type is predominantly prescribed Fluoropyrimidines according to the text?
Which cancer type is predominantly prescribed Fluoropyrimidines according to the text?
Signup and view all the answers
Study Notes
Applications of Genomics in Practice
- Genomics is the study of the genome, and all the associated technologies, involving the interpretation of the genome and clinical action.
- Genomics has various applications in practice, including rare disease diagnosis, cancer diagnosis, and pharmacogenomics.
Rare Disease Diagnosis
- Whole Genome Sequencing (WGS) can be used to compare patients with the same condition to reveal patterns and identify genetic causes.
- WGS can help in the diagnosis of rare diseases, reducing the diagnostic odyssey and enabling targeted treatments.
Cancer Diagnosis
- Genomics can be used to identify mutations associated with cancer, both somatic and germline.
- This information can be used to develop preventative and targeted treatments for cancer.
Cystic Fibrosis
- Cystic Fibrosis (CF) is an inherited disorder that affects the cells that produce mucus, sweat, and digestive juices.
- CF causes severe damage to the lungs, digestive system, and other organs in the body.
- The CFTR gene was discovered in 1989, which raised hope for the treatment of CF.
- Over 100 labs have come together to identify over 2000 mutations in the CFTR gene, leading to a better understanding of genotype-phenotype correlations.
- Mutation-specific therapies have been developed to target CFTR mutations.
Physiopathology of Cystic Fibrosis
- CFTR is a phosphorylation-regulated Cl- channel that is comprised of 1480 amino acids organized into 5 functional domains.
- The correct functionality of these 5 domains is needed to control the channel activity.
- The CFTR gene is responsible for regulating the transport of salt and water in the body.
Pharmacogenomics
- Pharmacogenomics is the study of how a patient's genome can influence how they respond to medicines.
- Pharmacogenomics can help in the development of personalized medicine, where treatment is tailored to an individual's genetic profile.
- Pharmacogenomics is used in the treatment of CF, where CFTR modulators are used to target specific mutations in the CFTR gene.
- Pharmacogenomics is also used in cancer treatment, where genetic testing can help identify patients who are likely to respond to specific treatments.
Pharmacogenomics in Cystic Fibrosis
- Kalydeco (ivacaftor) is a potentiator of the CFTR protein that is used to treat gating mutations.
- Orkambi (lumicaftor/ivacaftor) and Symkevi (tezacaftor/ivacaftor) are CFTR modulators that are used to treat specific mutations in the CFTR gene.
- Triple therapy, Kaftrio (elexacaftor/tezacaftor/ivacaftor), is used to treat patients with the F508del mutation.
- Strict commissioning criteria must be followed for eligibility in certain mutations.
Oncology and Pharmacogenetics
- Pharmacogenetics is the study of how variation in a single gene can impact on variability in the body's response to one specific medicine.
- Pharmacogenetics is used in cancer treatment to identify patients who are likely to respond to specific treatments.
- Genetic testing is used to identify patients with genetic mutations that can affect the efficacy of certain treatments.
- Examples of genetic tests used in cancer treatment include TPMT, NUDT15, UGT1A1, CYP2D6, and G6PD.
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
Description
Learn about the application of pharmacogenomics in clinical practice, the variability of Genomic Medicine in Cystic Fibrosis, and key genes that can compromise safety in Oncology treatments. Dr. Veronica Chorro-Mari from East Kent University Hospitals NHS Foundation Trust will lead this session.
