BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

ObjectiveTo compare the cost-effectiveness of genetic testing strategies in patients with epilepsy of unknown etiology.MethodsThis meta-analysis and cost-effectiveness study compared strategies involving 3 genetic tests: chromosomal microarray (CMA), epilepsy panel (EP) with deletion/duplication testing, and whole-exome sequencing (WES) in a cost-effectiveness model, using “no genetic testing” as a point of comparison.ResultsTwenty studies provided information on the diagnostic yield of CMA (8 studies), EP (9 studies), and WES (6 studies). The diagnostic yield was highest for WES: 0.45 (95% confidence interval [CI]: 0.33–0.57) (0.32 [95% CI: 0.22–0.44] adjusting for potential publication bias), followed by EP: 0.23 (95% CI: 0.18–0.29), and CMA: 0.08 (95% CI: 0.06–0.12). The most cost-effective test was WES with an incremental cost-effectiveness ratio (ICER) of $15,000/diagnosis. However, after adjusting for potential publication bias, the most cost-effective test was EP (ICER: $15,848/diagnosis) followed by WES (ICER: $34,500/diagnosis). Among combination strategies, the most cost-effective strategy was WES, then if nondiagnostic, EP, then if nondiagnostic, CMA (ICER: $15,336/diagnosis), although adjusting for potential publication bias, the most cost-effective strategy was EP ± CMA ± WES (ICER: $18,385/diagnosis). While the cost-effectiveness of individual tests and testing strategies overlapped, CMA was consistently less cost-effective than WES and EP.ConclusionWES and EP are the most cost-effective genetic tests for epilepsy. Our analyses support, for a broad population of patients with unexplained epilepsy, starting with these tests. Although less expensive, CMA has lower yield, and its use as the first-tier test is thus not supported from a cost-effectiveness perspective.

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Predictive genetic testing of first degree relatives of mutation carriers is a cost-effective strategy in preventing hereditary non-polyposis colorectal cancer in Singapore

Familial Cancer ◽

10.1007/s10689-012-9513-y ◽

2012 ◽

Vol 11 (2) ◽

pp. 279-289 ◽

Cited By ~ 18

Author(s):

Vivian Wei Wang ◽

Poh Koon Koh ◽

Wai Leng Chow ◽

Jeremy Fung Yen Lim

Keyword(s):

Colorectal Cancer ◽

Genetic Testing ◽

Cost Effective ◽

Predictive Genetic Testing ◽

Effective Strategy ◽

First Degree Relatives ◽

Cost Effective Strategy ◽

Mutation Carriers

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The Cost-Effectiveness of the Management of Acute Sinusitis

American Journal of Rhinology ◽

10.2500/ajr.2007.21.3009 ◽

2007 ◽

Vol 21 (4) ◽

pp. 444-451 ◽

Cited By ~ 17

Author(s):

Yoshimi Anzai ◽

Jeffrey G. Jarvik ◽

Sean D. Sullivan ◽

William Hollingworth

Keyword(s):

Societal Perspective ◽

Clinical Guideline ◽

Low Cost ◽

Treatment Strategies ◽

Cost Effective ◽

Quality Adjusted Life Year ◽

Acute Sinusitis ◽

Effective Strategy ◽

Targeting Therapy ◽

Cost Effective Strategy

Background Sinusitis is a common medical disease with a tremendous economic impact on health care. Our objective was to determine the most cost-effective strategy for the management of acute sinusitis from the societal and payers’ perspectives. Methods A Markov disease simulation model was used for comparing four treatment strategies: (1) no antibiotic (Abx), (2) empiric Abx, (3) CT-based Abx, and (4) clinical guideline-based Abx. Results Empiric Abx treatment was the most cost-effective from the societal perspective. Clinical guideline-based treatment was the most cost-effective strategy from the payers’ perspective ($38,515/quality-adjusted life year). Cost and effectiveness of Abx, time lost from work, and prevalence of acute bacterial sinusitis are influential variables. Conclusion Empiric Abx treatment is a cost-effective strategy from the short-term societal perspective. However, Abx resistance will lead to increased costs and reduced efficacy of this strategy in the long-term. Clinical guidelines provide a low-cost method of targeting therapy.

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