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

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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)
JournalClinical Gastroenterology and Hepatology
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Genetic Testing
Early Detection of Cancer
Colorectal Neoplasms
Referral and Consultation
Hereditary Nonpolyposis Colorectal Neoplasms
Hispanic Americans
African Americans
Neoplasms
Multivariate Analysis
Institutional Practice
Population
Regression Analysis
Guidelines

Keywords

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

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology

Cite this

Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening. / Muller, Charles; Lee, Sang Mee; Barge, William; Siddique, Shazia M.; Berera, Shivali; Wideroff, Gina; Tondon, Rashmi; Chang, Jeremy; Peterson, Meaghan; Stoll, Jessica; Katona, Bryson W.; Sussman, Daniel A; Melson, Joshua; Kupfer, Sonia S.

In: Clinical Gastroenterology and Hepatology, 01.01.2018.

Research output: Contribution to journalArticle

Muller, C, Lee, SM, Barge, W, Siddique, SM, Berera, S, Wideroff, G, Tondon, R, Chang, J, Peterson, M, Stoll, J, Katona, BW, Sussman, DA, Melson, J & Kupfer, SS 2018, 'Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening', Clinical Gastroenterology and Hepatology. https://doi.org/10.1016/j.cgh.2018.08.038
Muller, Charles ; Lee, Sang Mee ; Barge, William ; Siddique, Shazia M. ; Berera, Shivali ; Wideroff, Gina ; Tondon, Rashmi ; Chang, Jeremy ; Peterson, Meaghan ; Stoll, Jessica ; Katona, Bryson W. ; Sussman, Daniel A ; Melson, Joshua ; Kupfer, Sonia S. / Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening. In: Clinical Gastroenterology and Hepatology. 2018.
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abstract = "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.",
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author = "Charles Muller and Lee, {Sang Mee} and William Barge and Siddique, {Shazia M.} and Shivali Berera and Gina Wideroff and Rashmi Tondon and Jeremy Chang and Meaghan Peterson and Jessica Stoll and Katona, {Bryson W.} and Sussman, {Daniel A} and Joshua Melson and Kupfer, {Sonia S.}",
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AU - Muller, Charles

AU - Lee, Sang Mee

AU - Barge, William

AU - Siddique, Shazia M.

AU - Berera, Shivali

AU - Wideroff, Gina

AU - Tondon, Rashmi

AU - Chang, Jeremy

AU - Peterson, Meaghan

AU - Stoll, Jessica

AU - Katona, Bryson W.

AU - Sussman, Daniel A

AU - Melson, Joshua

AU - Kupfer, Sonia S.

PY - 2018/1/1

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N2 - 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.

AB - 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.

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KW - Hereditary Nonpolyposis Colorectal Cancer

KW - Mutation

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