International Journal of Clinical Case Reports 2024, Vol.14, No.2, 107-116 http://medscipublisher.com/index.php/ijccr 111 2.2 Cardiovascular disease prevention The strategies for preventing cardiovascular diseases are being revolutionized by personalized medicine approaches, primarily thanks to a deeper understanding of genetic risk factors. Through the analysis of genomic data, medical experts can now assess an individual's genetic predisposition to cardiovascular diseases. This assessment helps doctors design more targeted prevention plans for high-risk groups. By identifying genetic markers associated with cardiovascular diseases, such as specific gene mutations, doctors can pinpoint individuals who are genetically more susceptible to these conditions. This information is extremely valuable as it can be used not only for early warning but also to guide doctors in customizing preventative measures for these high-risk individuals. For instance, for those who are genetically predisposed to high cholesterol, doctors might recommend a specialized diet plan aimed at lowering their cholesterol levels, thereby reducing their risk of cardiovascular diseases. In addition to lifestyle adjustments, genetic information can also be utilized for personalized medication treatments. In some cases, an individual's genotype may influence their response to specific drugs. This information can guide doctors in choosing the most suitable medication for each patient and adjusting dosages to maximize efficacy and minimize side effects. The studies by Assimes and Roberts (2016) explored how genetic susceptibility to Coronary Artery Disease (CAD) impacts prevention and management. By identifying more than 60 CAD susceptibility loci, they revealed new potential pathogenic pathways and highlighted the benefits of long-term risk factor modification. Mendelian randomization studies provided insights into the causal relationships between CAD-related traits. Genetic risk scores have been proposed as a predictive tool to improve the delivery of prevention strategies, opening new pathways for personalized prevention and treatment strategies based on genetic information. Rasmussen and Frikke-Schmidt (2023) emphasized in their research that by integrating genetic risk factors with modifiable cardiovascular risk factors, more effective targeted prevention of dementia can be achieved. This approach provides a personalized prevention strategy aimed at controlling cardiovascular risks through lifestyle changes, thereby reducing the risk of dementia. The study notes that while this comprehensive prevention strategy has potential, further research is needed to evaluate its actual effectiveness in reducing the incidence of dementia (Rasmussen and Frikke-Schmidt, 2023). Furthermore, for those individuals already identified as high-risk, regular physiological and genetic monitoring is essential. This includes routine checks of blood pressure and cholesterol levels, as well as tracking their genetic markers, to ensure their prevention strategies remain up-to-date and effective. By integrating genetic information, doctors can now tailor cardiovascular disease prevention plans for each individual, thereby enhancing the effectiveness of preventive measures, reducing the incidence of cardiovascular diseases, and improving the quality of life for individuals. 2.3 Diagnosis and treatment of rare diseases The diagnosis and treatment of rare diseases have always been significant challenges in the medical field, due to the vast number of different diseases and the relatively small number of patients suffering from each. This has led to somewhat delayed research and development of treatment methods for these diseases. However, with advancements in genomics, the situation is starting to change. In terms of diagnosis, the application of genomic data has significantly accelerated the diagnostic process. Traditional diagnostic methods could take years to reach a conclusion, involving a series of complex tests and evaluations. In contrast, whole-genome or whole-exome sequencing technologies can analyze thousands of genes in a patient in just a few weeks, quickly identifying the specific genetic mutations causing the disease.
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