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How do germline mutations affect efficacy/toxicity of drugs?

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Final answer:

Germline mutations affect drug efficacy and toxicity by causing variations in the body's response to medications. These mutations can alter enzyme activities that activate or deactivate drugs, leading to differences in treatment outcomes. Pharmacogenomics, considering one's genomic information, aims for personalized medicine to achieve optimal therapeutic effectiveness and safety.

Step-by-step explanation:

Germline mutations can have a significant impact on the efficacy and toxicity of drugs due to their heritable nature, which may either cause genetic diseases or increase the likelihood of developing certain conditions. In the realm of pharmacogenomics and toxicogenomics, these inherited genetic variations are a key consideration when predicting how an individual will respond to therapeutic drugs. The presence of specific germline mutations in one's DNA can influence how their body activates, deactivates, and reacts to particular medications.

For instance, germline mutations can result in the abnormal production of enzymes that are crucial for drug metabolism. If an enzyme activates a drug too slowly or too quickly, it may alter the intended effects, leading to reduced efficacy or increased toxicity. Conversely, variations in enzymes responsible for drug deactivation can cause the drug to remain active longer than anticipated, potentially leading to adverse effects. Therefore, understanding a patient's genetic makeup can help healthcare professionals customize treatments to be the most effective and least toxic based on the individual's genotype.

Furthermore, pharmacogenomics involves evaluating the safety and effectiveness of drugs through the analysis of changes in gene expression profiles. Genes regulating cellular growth and cell death, when disrupted by germline mutations, can signify a higher risk of cancerous growth in response to certain drugs. Ultimately, personalized medicine relies heavily on pharmacogenomics to design treatments that are tailored to the unique genetic characteristics of each patient.

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