ArticleCancer2022
Disparities in cancer genetics care by race/ethnicity among pan-cancer patients with pathogenic germline variants.
Article in Cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.JAMA network open · 2023Pooled it
- Bridging Technology and Pretest Genetic Services: Quantitative Study of Chatbot Interaction Patterns, User Characteristics, and Genetic Testing Decisions.Journal of medical Internet research · 2025Trial
- Assessing the Clinical Relevance ofCurrent oncology (Toronto, Ont.) · 2026Article
- Using patient-reported outcomes from the PROCLAIM trial to assess the impact of universal germline genetic testing for prostate cancer patients.Prostate cancer and prostatic diseases · 2026Article
- Familial Disclosure and Cascade Testing in High-Risk Families is Influenced by Gene Variant Penetrance: Implications for Family based Breast Cancer Prevention.Research square · 2026Article
- Subclinical Telomere Biology Disorder in Cancer Patients Heterozygous for the RTEL1 R1264H Founder Variant.American journal of medical genetics. Part A · 2026Article
- Do Socio-Economic Determinants Influence DPYD Testing? A Real-World Study of 1478 Cancer Patients Receiving Fluoropyrimidine Chemotherapy.Medical sciences (Basel, Switzerland) · 2026Article
- Germline landscape of high grade serous ovarian cancer across age groups: Is age just a number?Gynecologic oncology · 2025Article
- Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.JCO precision oncology · 2025Article
- The association of race and ethnicity with risk-reducing mastectomies in patients with non-BRCA mutations.American journal of surgery · 2025Article
- Pathogenic germline variants among women with uterine cancer by ancestry: A commercial laboratory collaborative research registry study.Gynecologic oncology · 2025Article
- Establishment of a comprehensive set of fact sheets for cancer predisposition genes for medical oncologists practicing cancer genome profiling.International journal of clinical oncology · 2025Review
- Understanding the reasons for declining to participate in cancer genetics and genomic studies in the USA: a scoping review protocol.BMJ open · 2025Article
- Optimizing Mainstreaming of Genetic Testing in Parallel With Ovarian and Endometrial Cancer Tumor Testing: How Do We Maximize Our Impact?JCO precision oncology · 2024Article
- Genomic landscape of comprehensive genomic profiling in patients with malignant solid tumors in Japan.International journal of clinical oncology · 2024Article
- Article
- Basket Trials: Past, Present, and Future.Annual review of cancer biology · 2024Article
- Oncologists' perceptions of tumor genomic profiling and barriers to communicating secondary hereditary risks to African American cancer patients.BMC cancer · 2024Article
- Mainstreaming in parallel with ovarian cancer tumor testing to improve genetic testing uptake.Gynecologic oncology · 2024Article
- Disparities in Genetic Testing for Neurologic Disorders.Neurology · 2024Article
Corrections and comments
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Authors and funding
27 authors at 1 institution in 1 country.
Funding
Abstract
backgroundGermline risk assessment is increasing as part of cancer care; however, disparities in subsequent genetic counseling are unknown.
methodsPan-cancer patients were prospectively consented to tumor-normal sequencing via custom next generation sequencing panel (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) inclusive of germline analysis of ≥76 genes from January 2015 through December 2019 (97.5% research nonbillable) with protocol for genetics referral. Rates of pathogenic/likely pathogenic germline variants (PVs) and downstream counseling were compared across ancestry groups (mutually exclusive groups based on self-reported race/ethnicity and Ashkenazi Jewish [AJ] heritage) using nonparametric tests and multivariable logistic regression models.
resultsAmong 15,775 patients (59.6%, non-Hispanic [NH]-White; 15.7%, AJ; 20.5%, non-White [6.9%, Asian; 6.8%, Black/African American (AA); 6.7%, Hispanic; 0.1%, Other], and 4.2%, unknown), 2663 (17%) had a PV. Non-White patients had a lower PV rate (n = 433, 13.4%) compared to NH-Whites (n = 1451, 15.4%) and AJ patients (n = 683, 27.6%), p < .01, with differences in mostly moderate and low/recessive/uncertain penetrance variants. Among 2239 patients with new PV, 1652 (73.8%) completed recommended genetic counseling. Non-White patients had lower rates of genetic counseling (67.7%) than NH-White (73.7%) and AJ patients (78.8%), p < .01, with lower rates occurring in Black/AA (63%) compared to NH-White patients, even after adjustment for confounders (odds ratio, 0.60; 95% confidence interval, 0.37-0.97; p = .036). Non-White, particularly Black/AA and Asian, probands had a trend toward lower rates and numbers of at-risk family members being seen for counseling/genetic testing.
conclusionsDespite minimizing barriers to genetic testing, non-White patients were less likely to receive recommended cancer genetics follow-up, with potential implications for oncologic care, cancer risk reduction, and at-risk family members. LAY SUMMARY: Genetic testing is becoming an important part of cancer care, and we wanted to see if genetics care was different between individuals of different backgrounds. We studied 15,775 diverse patients with cancer who had genetic testing using a test called MSK-IMPACT that was covered by research funding. Clinically important genetic findings were high in all groups. However, Black patients were less likely to get recommended counseling compared to White patients. Even after removing many roadblocks, non-White and especially Black patients were less likely to get recommended genetics care, which may affect their cancer treatments and families.
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