Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations

Genet Med. 2018 Oct;20(10):1131-1144. doi: 10.1038/gim.2017.244. Epub 2018 Jan 4.

Abstract

Purpose: Lynch syndrome (LS) screening can significantly reduce cancer morbidity and mortality in mutation carriers. Our aim was to identify cost-effective LS screening programs that can be implemented in the "real world."

Methods: We performed a systematic review of full economic evaluations of genetic screening for LS in different target populations; health outcomes were estimated in life-years gained or quality-adjusted life-years.

Results: Overall, 20 studies were included in the systematic review. Based on the study populations, we identified six categories of LS screening program: colorectal cancer (CRC)-based, endometrial cancer-based, general population-based, LS family registry-based, cascade testing-based, and genetics clinic-based screening programs. We performed an in-depth analysis of CRC-based LS programs, classifying them into three additional subcategories: universal, age-targeted, and selective. In five studies, universal programs based on immunohistochemistry, either alone or in combination with the BRAF test, were cost-effective compared with no screening, while in two studies age-targeted programs with a cutoff of 70 years were cost-effective when compared with age-targeted programs with lower age thresholds.

Conclusion: Universal or <70 years-age-targeted CRC-based LS screening programs are cost-effective and should be implemented in the "real world."

Publication types

  • Research Support, Non-U.S. Gov't
  • Systematic Review

MeSH terms

  • Age Factors
  • Aged
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / economics
  • Colorectal Neoplasms / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / economics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Cost-Benefit Analysis / economics
  • Early Detection of Cancer / economics
  • Genetic Testing / economics*
  • Humans
  • Mass Screening / economics
  • Proto-Oncogene Proteins B-raf / genetics

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf