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2015 ; 3
(4
): 860-78
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When is Genomic Testing Cost-Effective? Testing for Lynch Syndrome in Patients
with Newly-Diagnosed Colorectal Cancer and Their Relatives
#MMPMID26473097
Grosse SD
Healthcare (Basel)
2015[]; 3
(4
): 860-78
PMID26473097
show ga
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.