Joyner Michael J
Department of Anesthesiology, Mayo Clinic, Rochester, MN 55905.
Prog Cardiovasc Dis. 2016 May-Jun;58(6):651-60. doi: 10.1016/j.pcad.2016.02.004. Epub 2016 Feb 21.
Precision medicine postulates improved prediction, prevention, diagnosis and treatment of disease based on patient specific factors especially DNA sequence (i.e., gene) variants. Ideas related to precision medicine stem from the much anticipated "genetic revolution in medicine" arising seamlessly from the human genome project (HGP). In this essay I deconstruct the concept of precision medicine and raise questions about the validity of the paradigm in general and its application to cardiovascular disease. Thus far precision medicine has underperformed based on the vision promulgated by enthusiasts. While niche successes for precision medicine are likely, the promises of broad based transformation should be viewed with skepticism. Open discussion and debate related to precision medicine are urgently needed to avoid misapplication of resources, hype, iatrogenic interventions, and distraction from established approaches with ongoing utility. Failure to engage in such debate will lead to negative unintended consequences from a revolution that might never come.
精准医学假定基于患者特定因素,尤其是DNA序列(即基因)变异,来改善疾病的预测、预防、诊断和治疗。与精准医学相关的理念源于人类基因组计划(HGP)自然而然引发的备受期待的“医学基因革命”。在本文中,我解构了精准医学的概念,并对这一范式的总体有效性及其在心血管疾病中的应用提出质疑。到目前为止,按照热心支持者所宣扬的愿景来看,精准医学的表现并不理想。虽然精准医学可能会在某些特定领域取得成功,但对于其广泛变革的承诺应持怀疑态度。迫切需要就精准医学展开公开讨论和辩论,以避免资源的误用、炒作、医源性干预,以及对仍具实用价值的既定方法的干扰。不参与此类辩论将导致一场可能永远不会到来的革命产生负面的意外后果。