Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening

Charles Muller, Sang Mee Lee, William Barge, Shazia M. Siddique, Shivali Berera, Gina Wideroff, Rashmi Tondon, Jeremy Chang, Meaghan Peterson, Jessica Stoll, Bryson W. Katona, Daniel A. Sussman, Joshua Melson, Sonia S. Kupfer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

70 Scopus citations


Background & Aims: Guidelines recommend that all colorectal tumors be assessed for mismatch repair deficiency, which could increase identification of patients with Lynch syndrome. This is of particular importance for minority populations, in whom hereditary syndromes are under diagnosed. We compared rates and outcomes of testing all tumor samples (universal testing) collected from a racially and ethnically diverse population for features of Lynch syndrome. Methods: We performed a retrospective analysis of colorectal tumors tested from 2012 through 2016 at 4 academic centers. Tumor samples were collected from 767 patients with colorectal cancer (52% non-Hispanic white [NHW], 26% African American, and 17% Hispanic patients). We assessed rates of tumor testing, recommendations for genetic evaluation, rates of attending a genetic evaluation, and performance of germline testing overall and by race/ethnicity. We performed univariate and multivariate regression analyses. Results: Overall, 92% of colorectal tumors were analyzed for mismatch repair deficiency without significant differences among races/ethnicities. However, minority patients were significantly less likely to be referred for genetic evaluation (21.2% for NHW patients vs 16.9% for African American patients and 10.9% for Hispanic patients; P =.02). Rates of genetic testing were also lower among minority patients (10.7% for NHW patients vs 6.0% for AA patients and 3.1% for Hispanic patients; P <.01). On multivariate analysis, African American race, older age, and medical center were independently associated with lack of referral for genetic evaluation and genetic testing. Conclusion: In a retrospective analysis, we found that despite similar rates of colorectal tumor analysis, minority patients are less likely to be recommended for genetic evaluation or to undergo germline testing for Lynch syndrome. Improvements in institutional practices in follow up after tumor testing could reduce barriers to diagnosis of Lynch diagnosis in minorities.

Original languageEnglish (US)
Pages (from-to)1911-1918.e2
JournalClinical Gastroenterology and Hepatology
Issue number12
StatePublished - Dec 2018


  • CRC
  • Genetic Counseling
  • Hereditary Nonpolyposis Colorectal Cancer
  • Mutation

ASJC Scopus subject areas

  • Gastroenterology
  • Hepatology


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