Underdiagnosis of Lynch syndrome involves more than family history criteria

Clin Gastroenterol Hepatol. 2010 Jun;8(6):523-9. doi: 10.1016/j.cgh.2010.03.010. Epub 2010 Mar 18.


Background & aims: Physicians' cancer-related family history assessment for Lynch syndrome is often inadequate. Furthermore, the extent to which clinicians recognize non-family history-related clues for Lynch syndrome is unclear. We reviewed an integrated electronic health record (EHR) to determine diagnostic evaluation for Lynch syndrome in patients diagnosed with colorectal cancer (CRC).

Methods: We conducted a retrospective cohort study of consecutive patients with CRC, newly diagnosed at a tertiary care Veterans Affairs facility, between 1999 and 2007. A detailed review of the EHR was conducted to evaluate the presence of family history-related and non-family history-related criteria of the Bethesda guidelines. Patient outcomes (identification in clinical practice and referral for genetic testing) were also determined.

Results: We identified a total of 499 patients (mean age, 65.4 years; 98.6% male; 51.1% non-Hispanic white). At least 1 of the Bethesda criteria was met for 57 patients (11.4%), none was met for 198 (39.7%), and there was uncertainty for 244 (48.9%) because of inadequate family history documentation and/or the patient was unsure about their family history. Forty-nine patients met criteria unrelated to family history. Only 4 of 57 patients (7%) who met the Bethesda guidelines had documentation of counseling. Among 244 patients with uncertainty, a suspicion for Lynch syndrome was documented in the EHR of 6 patients (2.5%); 3 received counseling.

Conclusions: Lynch syndrome is under-recognized, even when patients have clear criteria unrelated to family history. Multifaceted strategies focused on reducing providers' cognitive errors and harnessing EHR capabilities to improve recognition of Lynch syndrome are needed.

Publication types

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

MeSH terms

  • Aged
  • Cohort Studies
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Data Collection / methods
  • Diagnostic Errors*
  • Electronic Health Records / statistics & numerical data
  • Family Health*
  • Female
  • Health Services Research*
  • Humans
  • Male
  • Medical History Taking / methods*
  • Middle Aged
  • Retrospective Studies