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Underdiagnosis of Lynch syndrome involves more than family history criteria Singh H; Schiesser R; Anand G; Richardson PA; El-Serag HBClin Gastroenterol Hepatol 2010[Jun]; 8 (6): 523-9BACKGROUND & 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.|*Diagnostic Errors[MESH]|*Family Health[MESH]|*Health Services Research[MESH]|Aged[MESH]|Cohort Studies[MESH]|Colorectal Neoplasms, Hereditary Nonpolyposis/*diagnosis[MESH]|Data Collection/methods[MESH]|Electronic Health Records/statistics & numerical data[MESH]|Female[MESH]|Humans[MESH]|Male[MESH]|Medical History Taking/*methods[MESH]|Middle Aged[MESH]|Retrospective Studies[MESH] |
