Mestroni Luisa, Begay Rene L, Graw Sharon L, Taylor Matthew R G
University of Colorado Cardiovascular Institute and Adult Medical Genetics Program, Aurora, Colorado, USA.
Curr Opin Cardiol. 2014 May;29(3):227-34. doi: 10.1097/HCO.0000000000000056.
Novel medical approaches and personalized medicine seek to use genetic information to 'individualize' and improve diagnosis, prevention, and therapy. The personalized management of cardiovascular disease involves a large spectrum of potential applications, from diagnostics of monogenic disorders, to prevention and management strategies based on modifier genes, to pharmacogenetics, in which individual genetic information is used to optimize the pharmacological treatments.
Evidence suggests that the common polymorphic variants of modifier genes could influence drug response in cardiovascular disease in a variety of areas, including heart failure, arrhythmias, dyslipidemia, and hypertension. In heart failure, common genetic variants of β-adrenergic receptors, α-adrenergic receptors, and endothelin receptors (among others) have been associated with variable response to heart failure therapies. The challenge remains to develop strategies to leverage this information in ways that personalize and optimize cardiovascular therapy based on a patient's genetic profile.
Although advances in technologies will continue to transition personalized medicine from the research to the clinical setting, healthcare providers will need to reshape the clinical diagnostic paradigms. Ultimately, pharmacogenetics will give providers the options for improving patient management on the basis of pharmacogenetic data.
新型医学方法和个性化医疗旨在利用基因信息来“个性化”并改善诊断、预防和治疗。心血管疾病的个性化管理涉及广泛的潜在应用,从单基因疾病的诊断,到基于修饰基因的预防和管理策略,再到药物遗传学,即利用个体基因信息优化药物治疗。
有证据表明,修饰基因的常见多态性变异可能在包括心力衰竭、心律失常、血脂异常和高血压等多个领域影响心血管疾病的药物反应。在心力衰竭中,β-肾上腺素能受体、α-肾上腺素能受体和内皮素受体(以及其他受体)的常见基因变异与心力衰竭治疗的不同反应相关。挑战仍然是制定策略,以基于患者基因谱的方式利用这些信息来个性化和优化心血管治疗。
尽管技术进步将继续使个性化医疗从研究转向临床应用,但医疗保健提供者需要重塑临床诊断模式。最终,药物遗传学将为提供者提供基于药物遗传学数据改善患者管理的选择。