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Open AccessArticle

Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program

1
Department of Population Health Sciences, Geisinger, Danville, PA 17822, USA
2
Division of Genetic and Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH 43205, USA
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Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA
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Phenomic Analytics and Clinical Data Core, Geisinger, Danville, PA 17822, USA
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Department of Computer Science, University of Central Florida, Orlando, FL 32816, USA
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Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
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Department of Health Policy and Behavioral Science, School of Public Health, Georgia State University, Atlanta, GA 30302, USA
*
Author to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(1), 7; https://doi.org/10.3390/jpm10010007
Received: 24 December 2019 / Revised: 21 January 2020 / Accepted: 28 January 2020 / Published: 3 February 2020
(This article belongs to the Collection Genomic Medicine and Policy)
Population genomic screening has been demonstrated to detect at-risk individuals who would not be clinically identified otherwise. However, there are concerns about the increased utilization of unnecessary services and the associated increase in costs. The objectives of this study are twofold: (1) determine whether there is a difference in healthcare utilization and costs following disclosure of a pathogenic/likely pathogenic (P/LP) BRCA1/2 variant via a genomic screening program, and (2) measure the post-disclosure uptake of National Comprehensive Cancer Network (NCCN) guideline-recommended risk management. We retrospectively reviewed electronic health record (EHR) and billing data from a female population of BRCA1/2 P/LP variant carriers without a personal history of breast or ovarian cancer enrolled in Geisinger’s MyCode genomic screening program with at least a one-year post-disclosure observation period. We identified 59 women for the study cohort out of 50,726 MyCode participants. We found no statistically significant differences in inpatient and outpatient utilization and average total costs between one-year pre- and one-year post-disclosure periods ($18,821 vs. $19,359, p = 0.76). During the first year post-disclosure, 49.2% of women had a genetic counseling visit, 45.8% had a mammography and 32.2% had an MRI. The uptake of mastectomy and oophorectomy was 3.5% and 11.8%, respectively, and 5% of patients received chemoprevention. View Full-Text
Keywords: genomic screening; BRCA1/2; healthcare utilization; healthcare costs; uptake of risk management genomic screening; BRCA1/2; healthcare utilization; healthcare costs; uptake of risk management
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Hao, J.; Hassen, D.; Manickam, K.; Murray, M.F.; Hartzel, D.N.; Hu, Y.; Liu, K.; Rahm, A.K.; Williams, M.S.; Lazzeri, A.; Buchanan, A.; Sturm, A.; Snyder, S.R. Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program. J. Pers. Med. 2020, 10, 7.

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