Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through

Genet Med. 2014 Oct;16(10):773-82. doi: 10.1038/gim.2014.31. Epub 2014 Mar 20.

Abstract

Purpose: Universal tumor screening (UTS) for all colorectal cancer patients can improve the identification of Lynch syndrome, the most common cause of hereditary colorectal cancer. This multiple-case study explored how variability in UTS procedures influenced patient follow-through (PF) with germ-line testing after a screen-positive result.

Methods: Data were obtained through Web-based surveys and telephone interviews with institutional informants. Institutions were categorized as Low-PF (≤10% underwent germ-line testing), Medium-PF (11-40%), or High-PF (>40%). To identify implementation procedures (i.e., conditions) unique to High-PF institutions, qualitative comparative analysis was performed.

Results: Twenty-one informants from 15 institutions completed surveys and/or interviews. Conditions present among all five High-PF institutions included the following: (i) disclosure of screen-positive results to patients by genetic counselors; and (ii) genetic counselors either facilitate physician referrals to genetics professionals or eliminate the need for referrals. Although both of these High-PF conditions were present among two Medium-PF institutions, automatic reflex testing was lacking and difficulty contacting screen-positive patients was a barrier. The three remaining Medium-PF and five Low-PF institutions lacked the conditions found in High-PF institutions.

Conclusion: METHODS for streamlining UTS procedures, incorporating a high level of involvement of genetic counselors in tracking and communication of results and in reducing barriers to patient contact, are reviewed within a broader discussion on maximizing the effectiveness and public health impact of UTS.

Publication types

  • Comparative Study
  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Early Detection of Cancer / methods
  • Early Detection of Cancer / statistics & numerical data
  • Follow-Up Studies
  • Genetic Counseling / methods
  • Genetic Counseling / statistics & numerical data
  • Genetic Testing / methods*
  • Genetic Testing / statistics & numerical data
  • Germ-Line Mutation
  • Health Surveys / methods*
  • Health Surveys / statistics & numerical data
  • Humans
  • Reproducibility of Results
  • Sensitivity and Specificity