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Healthcare 2015, 3(4), 860-878; doi:10.3390/healthcare3040860

When is Genomic Testing Cost-Effective? Testing for Lynch Syndrome in Patients with Newly-Diagnosed Colorectal Cancer and Their Relatives

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
Academic Editors: Cecelia A. Bellcross and Debra Duquette
Received: 30 June 2015 / Revised: 28 August 2015 / Accepted: 16 September 2015 / Published: 24 September 2015
(This article belongs to the Special Issue Implementation of Public Health Genomics)
View Full-Text   |   Download PDF [151 KB, uploaded 24 September 2015]

Abstract

Varying estimates of the cost-effectiveness of genomic testing applications can reflect differences in study questions, settings, methods and assumptions. This review compares recently published cost-effectiveness analyses of testing strategies for Lynch Syndrome (LS) in tumors from patients newly diagnosed with colorectal cancer (CRC) for either all adult patients or patients up to age 70 along with cascade testing of relatives of probands. Seven studies published from 2010 through 2015 were identified and summarized. Five studies analyzed the universal offer of testing to adult patients with CRC and two others analyzed testing patients up to age 70; all except one reported incremental cost-effectiveness ratios (ICERs) < $ 100,000 per life-year or quality-adjusted life-year gained. Three studies found lower ICERs for selective testing strategies using family history-based predictive models compared with universal testing. However, those calculations were based on estimates of sensitivity of predictive models derived from research studies, and it is unclear how sensitive such models are in routine clinical practice. Key model parameters that are influential in ICER estimates included 1) the number of first-degree relatives tested per proband identified with LS and 2) the cost of gene sequencing. Others include the frequency of intensive colonoscopic surveillance, the cost of colonoscopy, and the inclusion of extracolonic surveillance and prevention options. View Full-Text
Keywords: health economics; cost-effectiveness; genomics; genetic testing; hereditary cancer; Lynch syndrome; colorectal cancer health economics; cost-effectiveness; genomics; genetic testing; hereditary cancer; Lynch syndrome; colorectal cancer
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Grosse, S.D. When is Genomic Testing Cost-Effective? Testing for Lynch Syndrome in Patients with Newly-Diagnosed Colorectal Cancer and Their Relatives. Healthcare 2015, 3, 860-878.

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