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

Kurt D Christensen^{1

2}, Jason L Vassy^{3

4

5}, Kathryn A Phillips^{6

7}, Carrie L Blout⁸, Danielle R Azzariti⁹, Christine Y Lu^{10

11}, Jill O Robinson¹², Kaitlyn Lee¹², Michael P Douglas⁶, Jennifer M Yeh^{13

14}, Kalotina Machini^{9

15

16}, Natasha K Stout^{10

11}, Heidi L Rehm^{9

15

16

17}, Amy L McGuire¹², Robert C Green^{8

3

17

18}, Dmitry Dukhovny¹⁹; MedSeq Project

Affiliations

¹ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA. kchristensen@bwh.harvard.edu.
² Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA. kchristensen@bwh.harvard.edu.
³ Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
⁴ Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
⁵ Section of General Internal Medicine, VA Boston Healthcare System, Boston, Massachusetts, USA.
⁶ Department of Clinical Pharmacy, Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), University of California San Francisco, San Francisco, California, USA.
⁷ Philip R. Lee Institute for Health Policy and Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA.
⁸ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
⁹ Partners HealthCare Laboratory for Molecular Medicine, Cambridge, Massachusetts, USA.
¹⁰ Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Massachusetts, USA.
¹¹ Department of Population Medicine, Harvard Medical School, Boston, Massachusetts, USA.
¹² Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
¹³ Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
¹⁴ Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
¹⁵ Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.
¹⁶ Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
¹⁷ Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
¹⁸ Partners HealthCare Personalized Medicine, Boston, Massachusetts, USA.
¹⁹ Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USA.

PMID: 29565423
PMCID: PMC6151171
DOI: 10.1038/gim.2018.35

Randomized Controlled Trial

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

Kurt D Christensen et al. Genet Med. 2018 Dec.

. 2018 Dec;20(12):1544-1553.

doi: 10.1038/gim.2018.35. Epub 2018 Mar 22.

Authors

Affiliations

¹ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA. kchristensen@bwh.harvard.edu.
² Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA. kchristensen@bwh.harvard.edu.
³ Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
⁴ Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
⁵ Section of General Internal Medicine, VA Boston Healthcare System, Boston, Massachusetts, USA.
⁶ Department of Clinical Pharmacy, Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), University of California San Francisco, San Francisco, California, USA.
⁷ Philip R. Lee Institute for Health Policy and Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA.
⁸ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
⁹ Partners HealthCare Laboratory for Molecular Medicine, Cambridge, Massachusetts, USA.
¹⁰ Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Massachusetts, USA.
¹¹ Department of Population Medicine, Harvard Medical School, Boston, Massachusetts, USA.
¹² Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
¹³ Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
¹⁴ Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
¹⁵ Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.
¹⁶ Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
¹⁷ Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
¹⁸ Partners HealthCare Personalized Medicine, Boston, Massachusetts, USA.
¹⁹ Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USA.

PMID: 29565423
PMCID: PMC6151171
DOI: 10.1038/gim.2018.35

Abstract

Purpose: Great uncertainty exists about the costs associated with whole-genome sequencing (WGS).

Methods: One 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.

Results: The 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.

Conclusion: Short-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.

Keywords: cardiology; costs; economics; primary care; whole-genome sequencing.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest

The authors declare the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: Dr. McGuire is a consultant for Human Longevity outside the submitted work. Dr. Green receives compensation for speaking or consultation from AIA, GenePeeks, Helix, Illumina, Ohana, Prudential and Veritas, and is co-founder and advisor to Genome Medical, Inc. Dr. Dukhovny reports consulting for Vermont Oxford Network, Gerson Lehrman Group, and ClearView Healthcare Partners and being faculty for Vermont Oxford Network outside the submitted work.

References

1. McCarthy JJ, McLeod HL, Ginsburg GS. Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med. 2013;5(189):189sr184–189sr184. - PubMed
1. Manolio TA. Incorporating whole-genome sequencing into primary care: falling barriers and next steps. Ann Intern Med. 2017;167(3):204–205. - PubMed
1. Armstrong K. Can genomics bend the cost curve? JAMA. 2012;307(10):1031–1032. - PubMed
1. Phillips KA, Ann Sakowski J, Trosman J, Douglas MP, Liang S-Y, Neumann P. The economic value of personalized medicine tests: what we know and what we need to know. Genet Med. 2014;16(3):251–257. - PMC - PubMed
1. Hatz MH, Schremser K, Rogowski WH. Is individualized medicine more cost-effective? A systematic review. PharmacoEconomics. 2014;32(5):443–455. - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical