J Natl Med Assoc. 2020 Oct 19:S0027-9684(20)30329-1. doi: 10.1016/j.jnma.2020.09.146. Online ahead of print.
INTRODUCTION: Colorectal cancer (CRC) is the third most common malignancy in the United States and disproportionately affects African-Americans. Approximately 5-10% of CRC results from hereditary cancer syndromes. A detailed family history is recommended as an initial component of cancer risk assessment to help determine initiation, frequency, screening method and genetic counselling referral. This study evaluated the rate of hereditary CRC risk assessment in African-American and white patients.
METHODS: A chart review of all patients referred for CRC screening in a university gastroenterology clinic during a 3 month period was performed. Patient self-described race/ethnicity, gender, age, documentation of multi-generational family medical history (3+ generations) were obtained. Amsterdam II Criteria, Bethesda Criteria and Colorectal Cancer Risk Assessment Tool were used to determine which patients with family histories should receive referrals for genetic counselling. Statistical analysis was performed using Fisher’s Exact Test with significance set at p < 0.05. The study was IRB approved.
RESULTS: 872 medical records were reviewed, including 452 African-American (276 females, 176 males; mean age 60.2), 263 White (123 females, 140 males; mean age 59.4), 45 Hispanic, and 42 Asian. Multi-generational family history was obtained from 143 (16.4%); 62 African-American (13.7%; 47 females, 15 males), 58 White (22.1%; 37 females, 21 whites), 3 Hispanic (6.7%), and 4 Asian (9.5%). There was a significant difference (p = 0.0050) in the rate of detailed family history in African-Americans and whites. However, African-Americans and Whites similarly qualified for genetic counselling when family history was obtained (p = 0.7915); 58.1% African-Americans (36; 30 females, 6 males) and 50% Whites (29: 19 females, 10 males) qualified for genetic counselling. Overall referral rate to genetic counselling was 16.5% with no significant difference (p = 0.7586) between African-Americans and whites.
CONCLUSIONS: CRC risk assessment with detailed family medical history was inconsistently performed in all patients. There was significantly lower rate of obtaining multi-generational family medical histories in African-Americans. Referrals of all patients for genetic counselling and testing were also insufficient. Appropriate identification of individuals at increased risk for hereditary cancer syndromes, particularly African-Americans, is critical to prevention, early detection, and treatment of CRC and improving disparities in care.