Christensen Kurt D, Dukhovny Dmitry, Siebert Uwe, Green Robert C
Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Department of Pediatrics, Oregon Health and Science University, Portland, OR 97239, USA.
J Pers Med. 2015 Dec 10;5(4):470-86. doi: 10.3390/jpm5040470.
Despite dramatic drops in DNA sequencing costs, concerns are great that the integration of genomic sequencing into clinical settings will drastically increase health care expenditures. This commentary presents an overview of what is known about the costs and cost-effectiveness of genomic sequencing. We discuss the cost of germline genomic sequencing, addressing factors that have facilitated the decrease in sequencing costs to date and anticipating the factors that will drive sequencing costs in the future. We then address the cost-effectiveness of diagnostic and pharmacogenomic applications of genomic sequencing, with an emphasis on the implications for secondary findings disclosure and the integration of genomic sequencing into general patient care. Throughout, we ground the discussion by describing efforts in the MedSeq Project, an ongoing randomized controlled clinical trial, to understand the costs and cost-effectiveness of integrating whole genome sequencing into cardiology and primary care settings.
尽管DNA测序成本大幅下降，但人们仍非常担心将基因组测序整合到临床环境中会大幅增加医疗保健支出。本评论概述了关于基因组测序成本和成本效益的已知情况。我们讨论了种系基因组测序的成本，阐述了迄今促使测序成本下降的因素，并预测未来推动测序成本的因素。然后，我们探讨了基因组测序在诊断和药物基因组学应用方面的成本效益，重点关注对次要发现披露以及将基因组测序整合到普通患者护理中的影响。在整个讨论过程中，我们通过描述MedSeq项目（一项正在进行的随机对照临床试验）中的努力来展开，该项目旨在了解将全基因组测序整合到心脏病学和初级保健环境中的成本和成本效益。
