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J Pers Med. 2015 Dec 10;5(4):470-86. doi: 10.3390/jpm5040470.

Assessing the Costs and Cost-Effectiveness of Genomic Sequencing.

Author information

1
Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA. kchristensen@genetics.med.harvard.edu.
2
Department of Pediatrics, Oregon Health and Science University, Portland, OR 97239, USA. dukhovny@ohsu.edu.
3
Department of Public Health, Medical Decision Making and Health Technology Assessment, University for Health Sciences, Medical Informatics and Technology, Hall in Tirol 6060, Austria. uwe.siebert@umit.at.
4
Department of Health Policy and Management, Harvard School of Public Health, Boston, MA 02115, USA. uwe.siebert@umit.at.
5
Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA. uwe.siebert@umit.at.
6
Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Partners Personalized Medicine, Boston, MA 02115, USA. rcgreen@genetics.med.harvard.edu.

Abstract

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.

KEYWORDS:

cost; cost-effectiveness; whole exome sequencing; whole genomic sequencing

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