Podcast
Questions and Answers
What is a significant challenge when inferring a patient's metabolic capacity from CYP2D6 genetic testing?
What is a significant challenge when inferring a patient's metabolic capacity from CYP2D6 genetic testing?
- All patients have the same genetic variants.
- CYP2D6 testing includes all existing allele variations.
- The presence of rare variants is often ignored. (correct)
- Genetic testing can fully predict drug metabolism.
Why can't identical genotypes guarantee the same metabolic capacity?
Why can't identical genotypes guarantee the same metabolic capacity?
- Patients may carry untested alleles that affect their metabolism. (correct)
- Genetics alone provide complete information about drug metabolism.
- Environmental factors play a minor role in drug metabolism.
- Drug metabolism is solely determined by diet.
What does the CYP2D6 genotype panel typically include?
What does the CYP2D6 genotype panel typically include?
- Comprehensive coverage of every possible allele.
- Only rare alleles to enhance testing accuracy.
- Only the most common alleles. (correct)
- All known variants related to drug interactions.
In pharmacogenomics, why is full genetic information insufficient for treatment planning?
In pharmacogenomics, why is full genetic information insufficient for treatment planning?
What is suggested about CYP2D6 genetic testing's ability to inform treatment?
What is suggested about CYP2D6 genetic testing's ability to inform treatment?
What is the primary goal of pharmacogenomics?
What is the primary goal of pharmacogenomics?
What does PGx-Guided Treatment primarily help determine?
What does PGx-Guided Treatment primarily help determine?
Genetic variation among individuals can lead to differences in how they respond to drugs. What does this imply for pharmacogenomics?
Genetic variation among individuals can lead to differences in how they respond to drugs. What does this imply for pharmacogenomics?
How does pharmacogenomics classify individuals?
How does pharmacogenomics classify individuals?
What can be concluded about the relationship between genetic variation and drug response?
What can be concluded about the relationship between genetic variation and drug response?
What is a significant outcome of understanding pharmacogenomics for patient treatment?
What is a significant outcome of understanding pharmacogenomics for patient treatment?
What does the phrase 'fit individuals differently' in pharmacogenomics imply?
What does the phrase 'fit individuals differently' in pharmacogenomics imply?
What is the primary source of genetic variation in the next generation?
What is the primary source of genetic variation in the next generation?
How many mutations on average occur in each sperm?
How many mutations on average occur in each sperm?
What occurs during meiosis in germ cells that contributes to genetic diversity?
What occurs during meiosis in germ cells that contributes to genetic diversity?
Which process is responsible for producing sperm cells from germ cells?
Which process is responsible for producing sperm cells from germ cells?
Why do somatic mutations not contribute to the next generation?
Why do somatic mutations not contribute to the next generation?
What can increase the chance of mutations in sperm production?
What can increase the chance of mutations in sperm production?
How does variation in DNA contribute to diseases in a population?
How does variation in DNA contribute to diseases in a population?
Which statement about germ cells is true?
Which statement about germ cells is true?
What is the effect of mutations on genetic variation in populations?
What is the effect of mutations on genetic variation in populations?
What is the process through which DNA variation first emerges in a population?
What is the process through which DNA variation first emerges in a population?
Which term refers to the physical location of alleles on the DNA?
Which term refers to the physical location of alleles on the DNA?
What can be true about mutations within a population?
What can be true about mutations within a population?
What defines a population in a genetic context?
What defines a population in a genetic context?
Which type of allele is considered the most common in a population?
Which type of allele is considered the most common in a population?
If 6 people have AA, 3 have AB and 1 have BB, how many A alleles are present in total?
If 6 people have AA, 3 have AB and 1 have BB, how many A alleles are present in total?
What is likely to be true about minor alleles in a population?
What is likely to be true about minor alleles in a population?
Which of the following is an example of a characteristic for defining a population?
Which of the following is an example of a characteristic for defining a population?
How many total B alleles are present in the same group of individuals (6 AA, 3 AB, 1 BB)?
How many total B alleles are present in the same group of individuals (6 AA, 3 AB, 1 BB)?
Which factor does NOT influence the spreading of mutations within a population?
Which factor does NOT influence the spreading of mutations within a population?
What role does natural selection play in the variation of alleles within a population?
What role does natural selection play in the variation of alleles within a population?
Which factor contributes to genetic drift in a population?
Which factor contributes to genetic drift in a population?
What is the consequence of gene flow between populations?
What is the consequence of gene flow between populations?
How does a mutation contribute to variation in a population?
How does a mutation contribute to variation in a population?
Which of the following describes a feature of genetic drift?
Which of the following describes a feature of genetic drift?
Which statement about the effects of natural selection is correct?
Which statement about the effects of natural selection is correct?
What happens to alleles in a population experiencing genetic drift?
What happens to alleles in a population experiencing genetic drift?
In what scenario is gene flow likely to occur?
In what scenario is gene flow likely to occur?
Which scenario illustrates natural selection in action?
Which scenario illustrates natural selection in action?
How does mixing with Neanderthals provide insight into gene flow?
How does mixing with Neanderthals provide insight into gene flow?
Flashcards
What is pharmacogenomics?
What is pharmacogenomics?
Pharmacogenomics (PGx) aims to personalize drug treatment by analyzing an individual's genetic makeup to predict their drug response.
How does pharmacogenomics classify people?
How does pharmacogenomics classify people?
PGx uses genetic information to classify individuals into groups based on their likely response to specific drugs.
What is the goal of PGx-guided treatment?
What is the goal of PGx-guided treatment?
By understanding genetic variations, PGx can help determine the most effective drug and dosage for an individual, maximizing therapeutic benefits and minimizing adverse reactions.
What is PGx testing?
What is PGx testing?
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Why do genetic variations matter in medication?
Why do genetic variations matter in medication?
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What can PGx help prevent or optimize?
What can PGx help prevent or optimize?
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What is the ultimate goal of PGx-guided treatment?
What is the ultimate goal of PGx-guided treatment?
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Mutations in Sperm Cells
Mutations in Sperm Cells
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Mitosis
Mitosis
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Meiosis
Meiosis
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Somatic Cells
Somatic Cells
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Somatic Mutations
Somatic Mutations
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Recombination
Recombination
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Unique DNA Sequence
Unique DNA Sequence
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Variation in DNA
Variation in DNA
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Evolution
Evolution
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Mutation
Mutation
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Alleles
Alleles
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Major allele
Major allele
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Minor allele
Minor allele
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Loci
Loci
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Population
Population
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Allele spread
Allele spread
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Germline mutations
Germline mutations
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Germline mutations
Germline mutations
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Allele frequency
Allele frequency
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Drug Metabolism
Drug Metabolism
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CYP2D6 Allele
CYP2D6 Allele
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CYP2D6 Phenotype
CYP2D6 Phenotype
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Genotype-Phenotype Discrepancy
Genotype-Phenotype Discrepancy
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Limitations of CYP2D6 Genetic Testing
Limitations of CYP2D6 Genetic Testing
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Natural Selection
Natural Selection
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Genetic Drift
Genetic Drift
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Gene Flow
Gene Flow
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Favorable Allele
Favorable Allele
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Hybridization
Hybridization
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Gene pool
Gene pool
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Adaptive trait
Adaptive trait
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DNA variation
DNA variation
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Differential reproductive success
Differential reproductive success
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Study Notes
Pharmacogenomics Goals
- Pharmacogenomics aims to classify individuals based on their genetic variations.
- This helps identify the best drug and dosage for each individual.
- Genetic variation between people impacts how they respond to drugs.
DNA Variations in Populations
- DNA variation arises from DNA combination in germ cells.
- Recombination and mutations from parent to offspring lead to diverse DNA.
- Not all mutations spread throughout the population to the same extent.
- Some variations are more common ('major alleles') while others are less frequent ('minor alleles').
Factors Affecting Allele Distribution
- Natural selection: Alleles contributing to survival and reproduction are favoured.
- Genetic drift: Random events can cause certain alleles to disappear or become more prevalent.
- Gene flow: Movement of alleles between populations.
Types of DNA Variations
- Single Nucleotide Variants (SNVs): Most common DNA variations, where a single nucleotide in a gene is altered.
- Short Indels: Variations due to the insertion or deletion of a small number of nucleotides.
- Structural Variations (SVs): Changes in larger segments of DNA, including inversions, translocations, and duplications.
SNVs and Gene Function
- SNVs in coding regions (exons) can change proteins leading to different functions.
- Nonsense or non-conservative SNVs can have a large, potentially problematic, effect.
- SNVs in non-coding regions may not directly influence nearby genes
- Silent mutations do not change the amino acid sequence and aren't usually problematic.
Pharmacogenomics and Disease/Drug Response
- DNA variations within a population are more significant compared to variations between populations.
- Studying DNA variations can identify genes contributing to disease or drug responses
- Tools like GWAS and whole exome sequencing are used to identify these variations.
- Candidate gene approach focuses on specific genes suspected to play a role in drug response variation.
- Using specific genomic information can allow for more targeted, personalized treatments
- Drug interactions and environmental factors can have significant roles in impacting treatment efficacy.
Gene Variations and Drug Response
- Pharmacodynamics factors govern drug efficacy.
- Pharmacodynamics factors govern drug toxicity.
- Pharmacodynamics variability arises from genetic variability (e.g. gene mutation, enzyme changes).
- Pharmacodynamics variability impacts how well a drug works in a patient.
- Pharmacogenetic testing helps determine drug response.
Detecting DNA Variations for Pharmacogenomics
- The CPIC (Clinical Pharmacogenetics Implementation Consortium) helps curate pharmacogenetic data for clinical use
- Challenges in detecting DNA variations include array design, sequencing methods, and large genomic data analysis
- Different sequencing approaches exist such as Whole genome sequencing, whole exome sequencing and high-density SNP microarrays
Alleles and Drug Metabolism
- Certain gene variations may lead to enhanced or reduced drug metabolism.
- This contributes variability in drug response and adverse effects,
- Variations in drug metabolism can impact drug efficacy and toxicity.
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