The Cost-Effectiveness of Genetic Testing Strategies for Lynch Syndrome Among Newly Diagnosed Patients With Colorectal Cancer

Genet Med. 2010 Feb;12(2):93-104. doi: 10.1097/GIM.0b013e3181cd666c.

Abstract

Purpose: To estimate the cost-effectiveness of genetic testing strategies to identify Lynch syndrome among newly diagnosed patients with colorectal cancer and to offer targeted testing to relatives of patients with Lynch syndrome.

Methods: We calculated incremental costs per life-year saved for universal testing relative to no testing and age-targeted testing for strategies that use preliminary genetic tests (immunohistochemistry or microsatellite instability) of tumors followed by sequencing of mismatch repair genes. We also calculated incremental cost-effectiveness ratios for pairs of testing strategies.

Results: Strategies to test for Lynch syndrome in newly diagnosed colorectal tumors using preliminary tests before gene sequencing have incremental cost-effectiveness ratios of <or=$45,000 per life-year saved compared with no testing and <or=$75,000 per life-year saved compared with testing restricted to patients younger than 50 years. The lowest cost testing strategies, using immunohistochemistry as a preliminary test, cost <or=$25,000 per life-year saved relative to no testing and <or=$40,000 per life-year saved relative to testing only patients younger than 50 years. Other testing strategies have incremental cost-effectiveness ratios >or=$700,000 per life-year saved relative to the lowest cost strategies. Increasing the number of relatives tested would improve cost-effectiveness.

Conclusion: Laboratory-based strategies using preliminary tests seem cost-effective from the US health care system perspective. Universal testing detects nearly twice as many cases of Lynch syndrome as targeting younger patients and has an incremental cost-effectiveness ratio comparable with other preventive services. This finding provides support for a recent US recommendation to offer testing for Lynch syndrome to all newly diagnosed patients with colorectal cancer.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Cost-Benefit Analysis
  • Female
  • Genetic Testing / economics*
  • Genetic Testing / methods*
  • Humans
  • Male