International Journal of Clinical Case Reports 2024, Vol.14, No.2, 107-116 http://medscipublisher.com/index.php/ijccr 112 This not only substantially shortens the diagnostic time for patients but also increases the accuracy of the diagnosis, avoiding prolonged periods of uncertainty and anxiety. Regarding treatment, the application of genomic data also shows tremendous potential. Once a diagnosis is confirmed, physicians can customize treatment plans based on the patient's specific genetic mutations. For some rare diseases, especially those with clear genetic causes, treatments targeting specific genetic defects, such as gene therapy or molecular targeted drugs, can be used. This approach directly addresses the root causes of the disease rather than merely treating symptoms, offering hope for significant improvement or even a cure for patients' conditions. Wright et al. (2018) in their study published in “Nature Reviews Genetics” indicate that most rare diseases affect children and many of these conditions have genetic underpinnings. Although current technologies and knowledge often fall short of a definitive diagnosis, pediatric genomics has made significant advances in increasing the rate of pathogenic gene discovery and improving the diagnosis of rare pediatric diseases through the adoption of next-generation sequencing technologies, particularly whole-exome and whole-genome sequencing. Hartin et al. (2020) in “Molecular Medicine” mention that approximately 400 million people worldwide suffer from rare diseases. While whole-exome and whole-genome sequencing have greatly facilitated the diagnosis of rare diseases, the overall diagnostic rate remains below 50%. Reducing the time needed for disease diagnosis is one of the most critical needs affecting patients with rare diseases. Posey (2019) discusses the revolutionary impact of genomic sequencing on the diagnosis of rare diseases in the “Orphanet Journal of Rare Diseases”. The article emphasizes that while genomic medicine has the potential to fundamentally transform healthcare, particularly in the diagnosis and treatment of rare diseases, achieving this goal requires identifying rare variants in approximately 20,000 protein-coding genes and understanding their impact on health. Although whole-genome sequencing enhances the sensitivity of variant detection, each technique has its limitations, and future challenges include improving variant detection sensitivity and resolving genetic heterogeneity (Posey, 2019). 2.4 Personalization of drug metabolism In the field of personalized medicine, the personalization of drug metabolism is a significant and challenging topic. It explores how to adjust drug treatments based on individual genetic differences to optimize therapeutic effects and minimize side effects. A classic example is the use of the antiplatelet drug clopidogrel in patients with cardiovascular diseases. The metabolism of the drug is influenced by the CYP2C19 enzyme in the human body, and reactions to the same drug can vary drastically among individuals. This is particularly true for individuals carrying genetic variants such as CYP2C19*2 or *3, who have reduced metabolic capacity for clopidogrel, potentially leading to insufficient therapeutic effects and increased risk of cardiovascular events. Scott et al. (2011) in their study published in “Clinical Pharmacology & Therapeutics”, pointed out that CYP2C19 polymorphism significantly affects the therapeutic outcomes of clopidogrel. The presence of the CYP2C19*2 allele, in particular, increases the risk of adverse cardiovascular events in patients with acute coronary syndrome being treated with clopidogrel. This study underscores the importance of personalized antiplatelet therapy based on CYP2C19 genotype to optimize effectiveness and reduce the risk of adverse effects, advancing the practice of genotype-based personalized medicine. These findings are crucial for guiding drug treatment choices in patients with cardiovascular diseases. To address this issue, it is recommended clinically to test for the CYP2C19 genotype before administering clopidogrel. If a patient is found to carry genetic variants that affect drug metabolism, physicians may adjust the drug dosage or consider switching to an alternative medication that does not depend on CYP2C19
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