ArticleClinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association2018
Low Referral Rate for Genetic Testing in Racially and Ethnically Diverse Patients Despite Universal Colorectal Cancer Screening.
Article in Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 2 of them syntheses that pooled it.
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Who cites it
70 citing papers in PubMed, 2 syntheses or guidelines pooled it, 109 citations in OpenAlex.
- Prevalence and Outcomes of p.Val142IleCirculation. Genomic and precision medicine · 2021Pooled it
- Racial and ethnic differences in knowledge and attitudes about genetic testing in the US: Systematic review.Journal of genetic counseling · 2019Pooled it
- A WeChat-Based Decision Aid Intervention to Promote Informed Decision-Making for Family Members Regarding the Genetic Testing of Patients With Colorectal Cancer: Randomized Controlled Trial.Journal of medical Internet research · 2025Trial
- Scoping review of Australian prioritisation frameworks impacting consumer access to clinical genetics: protocol.BMJ open · 2026Article
- Parental and public views on genomic newborn screening: a systematic review.European journal of human genetics : EJHG · 2026Review
- Differences in Cascade Genetic Testing Among Families With Hereditary Cancer Risk.JAMA network open · 2026Article
- Adapting mainstreaming genetic education and clinical communication materials for cancer patients of varying backgrounds.Patient education and counseling · 2026Article
- Cancer history and cancer risk communication among Arab-American families: Perspectives of young Arab-Americans in Michigan.Journal of genetic counseling · 2026Article
- Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.American journal of human genetics · 2026Article
- Paired Exome-Based Comprehensive Genomic Profiling and Germline Genetic Testing for Unselected Patients With Colorectal Cancer in a Multicenter Prospective Study.Gastro hep advances · 2026Article
- Barriers and facilitators of cancer genetic risk screening at community-based organizations serving Latinas.Journal of community genetics · 2025Article
- Cost-effectiveness of Lynch Syndrome Screening in Colorectal Cancer: Universal Germline vs Sequential Screening.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025Article
- Optimizing Cascade Testing to Advance Health Equity in Cardiac Amyloidosis.JAMA cardiology · 2025Article
- Factors influencing trustworthiness and perceived biases of medical information and genetic testing for Black and White Americans.PLoS genetics · 2025Article
- Impact of COVID-19 on Universal Tumor Screening, Referral Rates and Attendance at Cancer Genetic Counseling at a Safety-Net University Hospital.Current oncology (Toronto, Ont.) · 2025Article
- Cost-Effectiveness of Lynch Syndrome Identification Strategies in Individuals With Colorectal Cancer and the Impact on At-Risk Relatives.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025Article
- Predictors of Genetic Testing for Hereditary Cancer in Qualified Individuals.Medical research archives · 2025Article
- Clinician Recommendation for Hereditary Genetic Testing in Participants at Increased Risk for Hereditary Cancer.Cancers · 2025Article
- Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology Patients.Pediatric neurology · 2025Article
- Disparities in Genetic Testing for Inborn Errors of Immunity.The journal of allergy and clinical immunology. In practice · 2025Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
BACKGROUND &
aimsGuidelines 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.
methodsWe 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.
resultsOverall, 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.
conclusionIn 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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.