Pharmacogenetics and Personalized Medication

False (B)

Germline mutations occur in reproductive cells and are passed down to offspring, affecting all cells in the offspring. Somatic mutations occur in non-reproductive cells during an individual's lifetime and are not passed down to offspring.

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

<p>Germline mutation = A mutation that occurs in non-reproductive cells Somatic mutation = A mutation that occurs in reproductive cells and is passed down to offspring Polymorphism = A common genetic variant found in more than 1% of a population SNP = A type of polymorphism involving a single nucleotide change in the DNA sequence</p> Signup and view all the answers

<p>Gender (D)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>Pharmacokinetic and pharmacodynamic</p> Signup and view all the answers

<p>greater, prolonged</p> Signup and view all the answers

<p>Higher proportion of fat (B)</p> Signup and view all the answers

<p>True (A)</p> Signup and view all the answers

<p>Immature renal function</p> Signup and view all the answers

<p>Newborns = Glomerular filtration rate (GFR) is significantly lower than adults Term babies (within a week) = Renal function reaches levels similar to young adults Older individuals = Drug elimination may be less efficient due to age-related changes</p> Signup and view all the answers

<p>Increased drug metabolism due to immature liver enzymes (D)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>Grey-baby syndrome</p> Signup and view all the answers

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

<p>Kernicterus = Drug displacement of bilirubin from albumin Grey-baby syndrome = Accumulation of chloramphenicol due to slow hepatic conjugation Prolonged respiratory depression = Slow morphine conjugation in newborns Drug toxicity = Increased drug half-life due to reduced drug metabolism in newborns</p> Signup and view all the answers

<p>Increased maternal drug metabolism (C)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>Higher body fat proportion</p> Signup and view all the answers

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

<p>False (B)</p> Signup and view all the answers

<p>Increased heart rate (D)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>Autosomal dominant</p> Signup and view all the answers

<p>plasma cholinesterase</p> Signup and view all the answers

<p>Familial hypercholesterolaemia = HMG-CoA reductase Plasma cholinesterase deficiency = Plasma cholinesterase Acute Intermittent Porphyria = Porphobilinogen deaminase</p> Signup and view all the answers

<p>Autosomal recessive (D)</p> Signup and view all the answers

<p>True (A)</p> Signup and view all the answers

<p>Prolonged neuromuscular block</p> Signup and view all the answers

<p>Trastuzumab (C)</p> Signup and view all the answers

<p>True (A)</p> Signup and view all the answers

<p>Channel potentiators and correctors. Their efficacy depends on specific genetic mutations in the CFTR gene that cause cystic fibrosis.</p> Signup and view all the answers

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

<p>Trastuzumab = Monoclonal antibody targeting HER2 receptor Dasatinib and Imatinib = Tyrosine kinase inhibitors Thiopurine drugs (Tioguanine, Mercaptopurine, Azathioprine) = Inhibitors of purine metabolism 5-FU related compounds (Capecitabine and Tegafur) = Inhibitors of thymidylate synthase Abacavir = Reverse transcriptase inhibitor Carbamazepine = Anticonvulsant and mood stabilizer</p> Signup and view all the answers

<p>DPYD (A)</p> Signup and view all the answers

<p>False (B)</p> Signup and view all the answers

<p>To consistently demonstrate improvement in patient outcomes and add to the current best practice standards.</p> Signup and view all the answers

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

<p>HLA-B*5701 (C)</p> Signup and view all the answers

<p>True (A)</p> Signup and view all the answers

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

<p>Carbamazepine (A), Barbiturates (B), Griseofulvin (D)</p> Signup and view all the answers

<p>Reimbursement and lack of evidence regarding cost-effectiveness are two major hurdles. The other is the complexity of drug responses, which are influenced by multiple factors, making it difficult to rely on a single genetic biomarker for accurate predictions.</p> Signup and view all the answers

<p>Pharmacogenomics = The study of how genetic variations influence drug response Companion diagnostics = Genetic tests used to select patients who are most likely to benefit from a specific drug therapy HLA variants = Genetic markers linked to severe adverse drug reactions Clinical utility = Demonstration of improved efficacy or safety through pharmacogenetic testing Analytic validity = Confirmation that the genetic test accurately measures the intended genetic variant</p> Signup and view all the answers

<p>What are the patient's personal preferences regarding genetic testing? (B)</p> Signup and view all the answers

<p>True (A)</p> Signup and view all the answers

<p>Clinical relevance refers to the practical significance of genetic findings in guiding treatment decisions. While genetic tests can identify variations, their impact on drug response may be influenced by multiple factors, making it challenging to translate genetic information into clear clinical action.</p> Signup and view all the answers

The study of disease at a molecular level, enhancing genetic disease understanding.

A genetic disorder leading to high cholesterol levels, impacting heart disease risk.

A genetic condition affecting the metabolism of certain drugs, notably suxamethonium.

Increased susceptibility to prolonged paralysis due to ineffective plasma cholinesterase.

A blood test used to detect sensitivity variations in plasma cholinesterase enzyme activity.

An inherited disorder causing porphyrin accumulation, leading to acute attacks.

Hereditary mutations in the porphobilinogen deaminase gene causing acute porphyria.

Drug interactions leading to severe attacks in disorders like acute intermittent porphyria.

Differences among individuals affecting drug response.

Variability in drug absorption, distribution, metabolism, and excretion.

Differences in drug effects at the target site.

Factors like age, genetics, and disease that affect drug responses.

The limitation of using ethnicity for personalized medicine.

Age affects drug elimination and sensitivity, especially in newborns and elderly.

Newborns have immature kidneys, affecting drug elimination rates.

Variations in fat and water proportions with age that affect drug distribution.

Improvement in renal function is slower, requiring dose adjustments to avoid toxicity.

GFR declines from around 20 years, decreasing by 25% by age 50 and 50% by age 75.

Chronic drug use can lead to increased plasma concentration and toxicity due to declining kidney function.

Normal creatinine levels in elderly do not guarantee normal GFR due to reduced muscle mass.

Many liver enzymes are low in neonates, affecting drug metabolism and safety.

Serious conditions due to drug accumulation in newborns because of low conjugation activity.

Pregnancy changes affect drug disposition; for example, increased renal flow and altered protein binding.

Elderly are more sensitive to hypotensive drugs, resulting in common postural hypotension.

Elderly experience increased half-life of lipid-soluble drugs due to body fat changes.

Impaired kidney or liver function can lead to heightened toxicity from standard drug doses.

A class of drugs that can trigger acute attacks of porphyria by increasing ALA production.

A small interfering RNA treatment that reduces ALA synthase mRNA to alleviate neurotoxin buildup in porphyria.

Porphyria is five times more common in women, influenced by hormonal fluctuations.

Barriers to pharmacogenetic testing include cost-effectiveness and variability in drug response.

Demonstration of improved efficacy or safety due to pharmacogenetic evaluation.

Drug effectiveness can vary across individuals due to multiple genetic and environmental factors.

Tests that combine genetic information to guide drug selection, often for personalized medicine.

Determination of appropriateness for requesting genetic tests in clinical situations.

A monoclonal antibody that targets the HER2 receptor in breast cancer patients.

A tyrosine kinase inhibitor used for chronic myeloid leukaemia (CML) and acute lymphocytic leukaemia (ALL).

A genetic abnormality found in some leukaemia patients, making them sensitive to specific treatments.

Thiopurine S methyltransferase, an enzyme that detoxifies thiopurine drugs.

5-fluorouracil related compounds used in cancer treatment, but have a narrow therapeutic window.

A genetic variant linked to severe rash reactions in patients taking Abacavir.

Linked to severe rashes and conditions like Stevens-Johnson syndrome due to genetics.

Testing that determines how individual genetics affect drug response.

Process of adjusting medication doses based on genetic variations in drug metabolism.

Treatment effectiveness varies based on specific genetic mutations.

Measurable gene expression differences indicating pharmacogenetic variations.

Heritable changes passed through reproductive cells affecting all offspring cells.

Mutations occurring in non-reproductive cells during a lifetime, usually non-heritable.

Common genetic variants in >1% of the population, affecting drug response and disease susceptibility.

Gene variants that provide both advantages and disadvantages, maintaining stability in a population.

Diseases influenced by multiple genes and environmental factors, with complex inheritance patterns.

Applies to single-gene disorders where a mutation in one gene causes the disorder.

Assessing mutations via blood or tumor samples to guide drug selection and treatment.