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

Healthcare

Scott D. Grosse¹  Cecelia A. Bellcross¹ 

[1] National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA; E-Mail

关键词: health economics;    cost-effectiveness;    genomics;    genetic testing;    hereditary cancer;    Lynch syndrome;    colorectal cancer;   

DOI  :  10.3390/healthcare3040860

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.