精准医疗在心血管疾病中的应用：遗传学及其对表型的影响：JACC 焦点研讨会 1/5。
Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5.
机构信息
Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia; Sydney Medical School Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
Sydney Medical School Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia; Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.
出版信息
J Am Coll Cardiol. 2021 May 25;77(20):2517-2530. doi: 10.1016/j.jacc.2020.12.071.
Our understanding of the genetic basis of cardiovascular diseases (CVDs) has evolved rapidly. This has resulted from a combination of dedicated research in well phenotyped CVD patients, the sequencing of the human genome, and the ready accessibility and decreasing cost of next-generation sequencing technologies. This increased knowledge of the genetic basis of CVDs has heralded the era of precision medicine. This encompasses many elements including improved diagnosis, family screening, assistance with reproductive decisions, targeted therapeutics guided by both phenotype and genotype, and providing important insights into risk stratification and prognosis. Furthermore, novel insights into genetic mechanisms, clinical rollout of polygenic risk scores for common CVDs, and the promise of genome editing approaches to effectively cure disease represent some of the exciting future endeavors that will change established clinical approaches. This Part 1 of a 5-part series focuses on the underpinnings and fundamental aspects of precision medicine.
我们对心血管疾病（CVDs）遗传基础的理解已经迅速发展。这是由于在表型良好的 CVD 患者中进行了专门的研究、人类基因组测序以及下一代测序技术的便捷获取和成本降低的综合作用。这种对 CVD 遗传基础的深入了解开创了精准医学的时代。这包括许多方面，包括改进诊断、家族筛查、生殖决策辅助、根据表型和基因型指导的靶向治疗，以及为风险分层和预后提供重要见解。此外，对遗传机制的新认识、常见 CVD 多基因风险评分的临床应用以及基因组编辑方法有效治愈疾病的前景，代表了一些令人兴奋的未来努力，这些努力将改变既定的临床方法。这是一个由 5 部分组成的系列文章的第 1 部分，重点介绍了精准医学的基础和基本方面。
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