Category: Colorectal Cancer Prevention
Lauren M. Pascual
University of Miami, Jackson Memorial Hospital
It is estimated that 5% of individuals with colorectal cancer (CRC) have a mutation that increased their risk for the malignancy. Women are frequently assessed for genetic risks associated with breast cancer, however they may not be consistently screened for hereditary CRC syndromes. This study evaluated the rates of multi-generational family history documentation and subsequent referral for genetic counselling in women presenting for CRC screening at a university medical center.
Methods: A chart review evaluated all women referred to a university GI clinic for CRC screening during a 3 month period. Patient age, race and documentation of a family medical history (3+ generations) was obtained. Amsterdam II criteria, Bethesda criteria and Colorectal Cancer Risk Assessment Tool were used to determine who would qualify for genetic referral. A confidential Microsoft Excel database was generated. Analysis using Fisher’s Exact Test was performed with significance set at p< 0.05. The study was IRB approved.
Results: 500 medical records were reviewed. Self-reported race/ethnicity included 276 African-American (AA), 123 White, 32 Hispanic, 30 Asian, 20 other and 19 undocumented. 102 (20.4%) had a multi-generational family history. The mean age was 59.6 (range 33-89). White women were more likely to have a detailed family history documented compared to all other women (30.08% vs 16.48%; p=0.0016). AA compared to white women less often had multi-generational family histories obtained (17.03% vs 30.08%; p=0.0050). 64 of 500 women qualified for a genetic counseling referral with only 17 (26.56%) women referred. Those < 50 years compared to those >50 years old were more likely to be referred for genetic counselling (52.63% vs. 15.56%; p=0.0043).
Discussion: While it is well recognized that women can have genetic mutations associated with breast cancer, there may not be a similar awareness of hereditary CRC syndromes. This study revealed that detailed family medical histories to assess for CRC risk were not adequately obtained in women. Despite AA women having the highest rate of CRC among all women in the nation, multi-generational family medical histories were less often obtained. Additionally, women who qualified for genetic counseling were infrequently offered referrals. While this study is limited by single institutional design, reliance upon documentation and short duration, it highlights the need for increased identification and genetic counselling referrals for women at increased risk for CRC.
Lauren Pascual indicated no relevant financial relationships.
Danielle Kirelik indicated no relevant financial relationships.
Joseph Cioffi indicated no relevant financial relationships.
Marie Borum indicated no relevant financial relationships.