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Genet Med. 2018 Mar 22. doi: 10.1038/gim.2018.35. [Epub ahead of print]

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.

Author information

1
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
2
Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
3
Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
4
Section of General Internal Medicine, VA Boston Healthcare System, Boston, Massachusetts, USA.
5
Department of Clinical Pharmacy, Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), University of California San Francisco, San Francisco, California, USA.
6
Philip R. Lee Institute for Health Policy and Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA.
7
Partners HealthCare Laboratory for Molecular Medicine, Cambridge, Massachusetts, USA.
8
Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Massachusetts, USA.
9
Department of Population Medicine, Harvard Medical School, Boston, Massachusetts, USA.
10
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
11
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
12
Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
13
Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.
14
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
15
Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
16
Partners HealthCare Personalized Medicine, Boston, Massachusetts, USA.
17
Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USA.

Abstract

PurposeGreat uncertainty exists about the costs associated with whole-genome sequencing (WGS).MethodsOne hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months.ResultsThe incremental cost per patient of WGS testing was $5,098 in cardiology settings and $5,073 in primary care settings compared with family history alone. Mean 6-month downstream costs did not differ statistically between the control and WGS arms in either setting (cardiology: difference = -$1,560, 95% confidence interval -$7,558 to $3,866, p = 0.36; primary care: difference = $681, 95% confidence interval -$884 to $2,171, p = 0.70). Scenario analyses showed the cost reduction of omitting or limiting the types of secondary findings was less than $69 and $182 per patient in cardiology and primary care, respectively.ConclusionShort-term costs of WGS were driven by the costs of sequencing and interpretation rather than downstream health care. Disclosing additional types of secondary findings has a limited cost impact following disclosure.Genetics in Medicine advance online publication, 22 March 2018; doi:10.1038/gim.2018.35.

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