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Cardiovascular pharmacogenetics: a promise for genomically-guided therapy and personalized medicine
Insights
Genetic factors significantly contribute to cardiovascular disease (CVD) risk and drug response. Understanding these genetic variations can improve CVD diagnosis and personalized treatment strategies.
Area of Science:
- Genetics and Genomics
- Cardiovascular Medicine
- Personalized Medicine
Background:
- Cardiovascular disease (CVD) remains a leading global cause of mortality, with complex etiological factors.
- Genetic predisposition is increasingly recognized as a crucial determinant in CVD development and progression.
- Current understanding of the genetic underpinnings of CVD requires further elucidation to improve patient outcomes.
Purpose of the Study:
- To review the scientific advancements in understanding the genetic and genomic basis of CVD.
- To highlight the development and potential clinical utility of genetic biomarkers for CVD.
- To discuss the limitations and future directions for translating genetic findings into clinical practice.
Main Methods:
- Review of high-throughput genetics and genomics studies.
- Analysis of genome-wide association studies (GWAS) and other genomic approaches.
- Synthesis of evidence on genetic variations influencing CVD and drug responses.
Main Results:
- Numerous genetic variations associated with CVD have been identified using advanced genomic technologies.
- Genetic defects can impact CVD development and individual responses to cardiovascular medications (e.g., clopidogrel, aspirin, warfarin, statins).
- Validated genetic markers hold promise for enhanced diagnostic accuracy and personalized treatment strategies.
Conclusions:
- Genetic insights offer significant potential for personalized diagnostics and pharmacogenetics in CVD management.
- Further research is needed to elucidate pathological mechanisms and overcome limitations in translating genetic discoveries into clinical benefits.
- Integrating genetic information into clinical practice could revolutionize CVD prevention and treatment through personalized medicine.
Abstract:
Cardiovascular disease (CVD) is the leading cause of death worldwide. The basic causes of CVD are not fully understood yet. Substantial evidence suggests that genetic predisposition plays a vital role in the physiopathology of this complex disease. Hence, identification of genetic contributors to CVD will likely add diagnostic accuracy and better prediction of an individual's risk. With high-throughput genetics and genomics technology and newer genome-wide study approaches, a number of genetic variations across the human genome were uncovered. Evidence suggests that genetic defects could influence CVD development and inter-individual responses to widely used cardiovascular drugs like clopidogrel, aspirin, warfarin, and statins, and therefore, they may be integrated into clinical practice. If clinically validated, better understanding of these genetic variations may provide new opportunities for personalized diagnostic, pharmacogenetic-based drug selection and best treatment in personalized medicine. However, numerous gaps remain unsolved due to the lack of underlying pathological mechanisms for how genetic predisposition could contribute to CVD. This review provides an overview of the extraordinary scientific progress in our understanding of genetic and genomic basis of CVD as well as the development of relevant genetic biomarkers for this disease. Some of the actual limitations to the promise of these markers and their translation for the benefit of patients will be discussed.
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