Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients

Clin Gastroenterol Hepatol. 2004 Sep;2(9):813-9. doi: 10.1016/s1542-3565(04)00352-0.


Background and aims: An accurate family history is an essential component of cancer risk assessment. Our aim was to determine the concordance of family history assessments made by physicians with patients' self-reports and the frequency of referral for genetic evaluation in high-risk colorectal cancer (CRC) patients.

Methods: A self-administered family cancer history questionnaire was completed by 387 consecutive CRC patients at their first visit to a gastroenterology cancer clinic. Physician notes from the first visit were reviewed to determine the concordance of the family cancer history with patients' self-reported history. Prevalence of individuals that satisfied the Bethesda guidelines for hereditary colon cancer were compared with actual rates of referral. Regression analyses were used to determine factors associated with a comprehensive physician evaluation of family history.

Results: Oncologists documented a comprehensive family history in 59% (184 of 311) of patients with a first- or second-degree relative with cancer. Young age at diagnosis and a first-degree relative with CRC were not associated with a more comprehensive family history assessment. An increasing number of cancers per family was a strong predictor of a less comprehensive family history assessment (odds ratio = 0.63; P < 0.0001). Seventy-five of 387 (19%) CRC patients met Bethesda guidelines for genetics assessment, however, only 13 of 75 (17%) were referred.

Conclusions: Increased complexity in family cancer history leads to a decrease in accuracy of family history, suggesting the need for systematic approaches to facilitate family history assessment. Familial cancer risk remains largely unrecognized and referral rates for genetic evaluation for CRC syndromes are low.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Colorectal Neoplasms / genetics*
  • Female
  • Genetic Counseling
  • Humans
  • Logistic Models
  • Male
  • Medical History Taking*
  • Middle Aged
  • Multivariate Analysis
  • Pedigree
  • Referral and Consultation / statistics & numerical data
  • Risk Assessment