Racial and ethnic disparities in a real-world precision oncology data registry.
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ABSTRACT:
SUBMITTER: Cheung ATM
PROVIDER: S-EPMC9852424 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Publications
Racial and ethnic disparities in a real-world precision oncology data registry.
Cheung Alexander T M ATM Palapattu Elina L EL Pompa Isabella R IR Aldrighetti Christopher M CM Niemierko Andrzej A Willers Henning H Huang Franklin F Vapiwala Neha N Van Allen Eliezer E Kamran Sophia C SC
NPJ precision oncology 20230119 1
Biorepositories enable precision oncology research by sharing clinically annotated genomic data, but it remains unknown whether these data registries reflect the true distribution of cancers in racial and ethnic minorities. Our analysis of Project Genomics Evidence Neoplasia Information Exchange (GENIE), a real-world cancer data registry designed to accelerate precision oncology discovery, indicates that minorities do not have sufficient representation, which may impact the validity of studies d ...[more]
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Project description:ImportancePrecision oncology is revolutionizing cancer care, allowing for personalized treatments to improve outcomes. Cancer research has benefitted from well-designed studies incorporating precision medicine objectives, but it is unclear if these studies are representative of the diverse cancer population.ObjectiveTo evaluate racial and ethnic representation in breast, prostate, lung, and colorectal cancer studies incorporating precision oncology objectives in the Clinicaltrials.gov registry and compare with the incidence of these cancer types in racial and ethnic minority groups in the US population.Design, setting, and participantsThis cross-sectional study identified US-based breast, prostate, lung, and colorectal cancer studies incorporating precision oncology objectives for reporting of race and ethnicity. The Surveillance, Epidemiology, and End Results and US Census databases were used to determine cancer incidence by race and ethnicity, linked with cancer type and median year of enrollment for each trial. Data were collected and analyzed between December 2020 and April 2021.Main outcomes and measuresThe expected number of participants per study by each racial and ethnic group was calculated based on the corresponding US-based proportion. Under- and overrepresentation was defined as the ratio of the actual number of enrolled cases to the expected number of cases for each trial by cancer type. Ratios above 1 indicated overrepresentation while a ratio below 1 indicated underrepresentation. Random-effects meta-analysis of representation ratios of individual trials was performed to weigh each individual study.ResultsOf 93 studies encompassing 5867 enrollees with race and ethnicity data; 4826 participants (82.3%) were non-Hispanic White, 587 (10.0%) were Black, and 238 (4.1%) were Asian. Per observed-to-expected ratios, White participants were overrepresented in all studies, with a ratio of 1.35 (95% CI, 1.30-1.37), as well as Asian participants, with a ratio of 1.46 (95% CI, 1.28-1.66), while Black participants (ratio, 0.49; 95% CI, 0.45-0.54), Hispanic participants (ratio, 0.24; 95% CI, 0.20-0.28), and American Indian and Alaskan Native participants (ratio, 0.43; 95% CI, 0.24-0.78) were underrepresented. By individual cancer site, White participants were consistently overrepresented in all studies, while Black and Hispanic participants were underrepresented.Conclusions and relevanceThis analysis found that precision oncology studies for breast, lung, prostate, and colorectal cancers vastly underrepresent racial and ethnic minority populations relative to their cancer incidence in the US population. It is imperative to increase diversity among enrollees so that all individuals may benefit from cancer research breakthroughs and personalized treatments.
| S-EPMC8576580 | biostudies-literature
Project description:IntroductionThere are well-documented racial and ethnic disparities in mortality after cancer in the general population, but less is known about whether disparities also exist in disaster-exposed populations.MethodsWe conducted a longitudinal cohort study of 4341 enrollees in the World Trade Center Health Registry (WTCHR) with a first-ever primary invasive cancer diagnosis after 9/11/2001 and followed through 2020. We examined associations of race and ethnicity with all-cause mortality risk and cause-specific mortality risk using multivariable Cox proportional hazards regression models and Fine and Gray's proportional sub-distribution hazards models, respectively. Models were adjusted for baseline characteristics and tumor characteristics. We also examined models further adjusted for socioeconomic status (SES), and we used inverse odds weighting to formally test for mediation by SES.ResultsCompared to non-Hispanic White enrollees with cancer, non-Hispanic Blacks had higher risks for all-cause mortality (adjusted hazard ratio (aHR) = 1.20, 95% CI = 1.02-1.41) and non-cancer mortality (aHR = 1.48, 95% CI = 1.09-2.01) in the full model. In the model without SES, Hispanic enrollees with cancer had higher risks for all-cause mortality (aHR = 1.32, 95% CI = 1.09-1.60) and cancer mortality (aHR = 1.31, 95% CI = 1.05-1.64) compared to non-Hispanic Whites; these associations became not statistically significant in the full model. In the inverse odds weighting analysis, SES explained 24% and 29% of the disparity in all-cause mortality risk observed in non-Hispanic Blacks and Hispanics, respectively, compared to non-Hispanic Whites.ConclusionThis study found that there are racial and ethnic disparities in mortality after cancer in the WTCHR. Additional studies are needed to further explore the factors mediating these disparities.
| S-EPMC11348902 | biostudies-literature
Project description:BackgroundNext-generation sequencing provides comprehensive information about individuals' genetic makeup and is commonplace in precision oncology practice. Due to the heterogeneity of individual patient's disease conditions and treatment journeys, not all targeted therapies were initiated despite actionable mutations. To better understand and support the clinical decision-making process in precision oncology, there is a need to examine real-world associations between patients' genetic information and treatment choices.MethodsTo fill the gap of insufficient use of real-world data (RWD) in electronic health records (EHRs), we generated a single Resource Description Framework (RDF) resource, called PO2RDF (precision oncology to RDF), by integrating information regarding genes, variants, diseases, and drugs from genetic reports and EHRs.ResultsThere are a total 2,309,014 triples contained in the PO2RDF. Among them, 32,815 triples are related to Gene, 34,695 triples are related to Variant, 8,787 triples are related to Disease, 26,154 triples are related to Drug. We performed two use case analyses to demonstrate the usability of the PO2RDF: (1) we examined real-world associations between EGFR mutations and targeted therapies to confirm existing knowledge and detect off-label use. (2) We examined differences in prognosis for lung cancer patients with/without TP53 mutations.ConclusionsIn conclusion, our work proposed to use RDF to organize and distribute clinical RWD that is otherwise inaccessible externally. Our work serves as a pilot study that will lead to new clinical applications and could ultimately stimulate progress in the field of precision oncology.
| S-EPMC9338627 | biostudies-literature
Project description:BackgroundRacial and ethnic disparities are well-documented in cancer outcomes such as disease progression and survival, but less is known regarding potential disparities in symptom burden.AimsThe goal of this retrospective study was to examine differences in symptom burden by race and ethnicity in a large sample of cancer patients. We hypothesized that racial and ethnic minority patients would report greater symptom burden than non-Hispanic and White patients.Methods and resultsA total of 5798 cancer patients completed the Edmonton Symptom Assessment Scale-revised (ESAS-r-CSS) at least once as part of clinical care. Two indicators of symptom burden were evaluated: (1) total ESAS-r-CSS score (i.e., overall symptom burden) and (2) number of severe symptoms (i.e., severe symptomatology). For patients completing the ESAS-r-CSS on multiple occasions, the highest score for each indicator was used. Zero-inflated negative binomial regression analyses were conducted, adjusting for other sociodemographic and clinical characteristics. Symptomology varied across race. Patients who self-identified as Black reported higher symptom burden (p = .016) and were more likely to report severe symptoms (p < .001) than self-identified White patients. Patients with "other" race were also more likely to report severe symptoms than White patients (p = .032), but reported similar total symptom burden (p = .315). Asian and Hispanic patients did not differ from White or non-Hispanic patients on symptom burden (ps > .05).ConclusionThis study describes racial disparities in patient-reported symptom burden during routine oncology care, primarily observed in Black patients. Clinic-based electronic symptom monitoring may be useful to detect high symptom burden, particularly in patients who self-identify their race as Black or other. Future research is needed to reduce symptom burden in racially diverse cancer populations.
| S-EPMC8955049 | biostudies-literature
Project description:Through the delivery of large international projects including ICGC and TCGA, knowledge of cancer genomics is reaching saturation point. Enabling this to improve patient outcomes now requires embedding comprehensive genomic profiling into routine oncology practice. Towards this goal, this study defined the biologically and clinically relevant genomic features of adult cancer through detailed curation and analysis of large genomic datasets, accumulated literature and biomarker-driven therapeutics in clinic and development. The characteristics and prevalence of these features were then interrogated in 2348 whole genome sequences, covering 21 solid tumour types, generated by the PCAWG project. This analysis highlights the predominant contribution of copy number alterations and identifies a critical role for disruptive structural variants in the inactivation of clinically important tumour suppressor genes, including PTEN and RB1, which are not currently captured by diagnostic assays. This study defines a set of essential genomic features for the characterisation of common adult cancers.
| S-EPMC7758710 | biostudies-literature
Project description:This retrospective observational study evaluated racial disparities among Black and White patients with multiple myeloma (MM). We included patients from a longitudinal de-identified EHR-derived database who had ≥2 visits recorded on or after 1/1/2011, documented treatment, and race listed as White or Black. Black patients (n = 1172) were more likely female (54.8%/42.9%) and younger (<65 years, 40.8%/30.8%) than White patients (n = 4637). Unadjusted median real-world overall survival (rwOS) indexed to first-line of therapy (LOT) was 64.6 months (95% CI: 57.8-74.0) for Blacks and 54.5 months (95% CI: 50.9-56.2) for Whites. Adjusted rwOS estimates (for sex, age at index date, and practice type) to either first- (aHR = 0.94; 95% CI: 0.84-1.06) or second-LOT (aHR = 0.90; 95% CI: 0.77-1.05) were similar. Unadjusted derived response rate (dRR) during first-LOT was 84.8% (95% CI: 80.7-88.1) for Blacks and 86.9% (95% CI: 85.0-88.5) for Whites (odds ratio [OR] = 0.78 [95% CI: 0.57-1.10]); in second-LOT, 67.2% (95% CI: 58.4-75.0) for Blacks and 72.4% (95% CI: 68.1-76.3) for Whites (OR = 0.72 [95% CI: 0.46-1.13]). High representation of Black patients enabled this robust analysis, albeit with limitations inherent to the observational data source, the retrospective design, and the analytic use of newly derived endpoints requiring further validation.
| S-EPMC9018767 | biostudies-literature
Project description:The advent of next-generation sequencing (NGS) has provided unprecedented insight into the molecular complexity of pancreatic ductal adenocarcinoma (PDAC). This has led to the emergence of biomarker-driven treatment paradigms that challenge empiric treatment approaches. However, the growth of sequencing technologies is outpacing the development of the infrastructure required to implement precision oncology as routine clinical practice. Addressing these logistical barriers is imperative to maximize the clinical impact of molecular profiling initiatives. In this review, we examine the evolution of precision oncology in PDAC, spanning from germline testing for cancer susceptibility genes to multi-omic tumor profiling. Furthermore, we highlight real-world challenges to delivering precision oncology for PDAC, and propose strategies to improve the generation, interpretation, and clinical translation of molecular profiling data.
| S-EPMC7563487 | biostudies-literature
Project description:ImportanceWhether population-based racial and ethnic survival disparities for children with high-risk neuroblastoma persist in the clinical trial setting is unknown.ObjectiveTo investigate racial and ethnic survival disparities among children with high-risk neuroblastoma treated on frontline clinical trials.Design, setting, and participantsThis retrospective cohort study used data from Children's Oncology Group (COG) high-risk neuroblastoma trials from January 1, 2007, to December 31, 2016, with a data freeze on June 30, 2021. Children with high-risk neuroblastoma were analyzed in 2 cohorts: induction/consolidation trial participants and post-consolidation trial participants. Statistical analyses were performed from September 2, 2021, to December 30, 2024.ExposuresRace and ethnicity were the primary exposures, categorized as Hispanic, non-Hispanic Black, non-Hispanic other (American Indian or Alaska Native, Asian, and Native Hawaiian or Other Pacific Islander), or non-Hispanic White.Main outcomes and measuresPrimary outcomes included overall survival (OS) and event-free survival (EFS) from time of trial enrollment, estimated by Kaplan-Meier methods. Associations with race and ethnicity were evaluated by log-rank tests and Cox proportional hazards regression models. Secondary outcomes included induction delays, early trial withdrawal, relapse as first event, death as first event, postrelapse OS, and early phase trial enrollment.ResultsThe induction/consolidation cohort (median follow-up, 8.3 years [IQR, 6.1-9.8 years]) included 696 patients (404 males [58.1%]; 79 Hispanic patients [11.4%], 109 non-Hispanic Black patients [15.7%], 27 patients of non-Hispanic other race [3.9%], and 481 non-Hispanic White patients [69.1%]). The post-consolidation cohort (median follow-up, 7.5 years [IQR, 5.8-9.4 years]) included 935 patients (567 males [60.6%]; 87 Hispanic patients [9.3%], 145 non-Hispanic Black patients [15.5%], 41 patients of non-Hispanic other race [4.4%], and 662 non-Hispanic White patients [70.8%]). In multivariable Cox proportional hazards regression models, Hispanic children experienced significantly inferior OS (hazard ratio [HR], 1.78; 95% CI, 1.25-2.53; P = .01) on induction/consolidation studies compared with non-Hispanic White children; EFS did not differ. Non-Hispanic Black (HR, 1.54; 95% CI, 1.13-2.11) and Hispanic children (HR, 1.63; 95% CI, 1.09-2.43) experienced inferior OS on post-consolidation studies compared with non-Hispanic White children (P = .009); Hispanic children in post-consolidation studies experienced inferior EFS (HR, 1.68; 95% CI, 1.14-2.47; P = .02). Death as first event and postrelapse OS also differed by race and ethnicity.Conclusions and relevanceThis study suggests that Black and Hispanic children with high-risk neuroblastoma experienced inferior OS despite uniform planned treatment on frontline COG clinical trials. Investigated mechanisms did not completely explain survival disparities. Future evaluation of disparate treatment-related toxicities and postrelapse care as explanatory mechanisms are key next steps to promote equity.
| S-EPMC11829236 | biostudies-literature
Project description:Hidradenitis suppurativa (HS) is an inflammatory skin disease associated with high morbidity and disability that has limited treatment options. People from racial and ethnic minority groups may experience greater disease severity and delay to diagnosis. This study assessed the impact of race/ethnicity on HS diagnosis and management in real-world clinical settings. Data were derived from the Adelphi Real World Hidradenitis Suppurativa Disease Specific Programme, a survey of dermatologists and their consulting HS patients in five European countries and the USA in 2020/2021. Dermatologists returned demographic and clinical data, and treatment goals and satisfaction for their next five to seven consulting patients. Patients completed a questionnaire on disease history and diagnosis, disease burden, and treatment satisfaction. Groups were compared with bivariate tests. In total, 312 physicians returned data on 1787 patients; 57.6% were female and 77.7% White. People from racial and ethnic minority groups were younger than White patients (32.9 ± 11.6 vs. 34.9 ± 12.4, mean ± standard deviation) and reported symptoms at a younger age (23.3 ± 10.8 vs. 26.2 ± 11.1), but their time to first consultation was longer than for White patients (2.6 ± 5.7 vs. 1.2 ± 2.5 years). People from racial and ethnic minority groups took longer to receive a correct diagnosis following first consultation (2.7 ± 5.3 vs. 1.5 ± 4.1 years) and were more likely to be misdiagnosed with boils (73.5% vs. 40.4%). People from racial and ethnic minority groups had a greater disease awareness at diagnosis and reported wanting greater support. People from racial and ethnic minority groups reported a greater impact on life, more severe pain, and a greater level of activity impairment in the Work Productivity and Activity Impairment: General Health (27.0 ± 25.2 vs. 20.0 ± 20.6). All P values were ≤0.05. These data show evidence of delayed diagnosis and higher HS symptom burden amongst people from racial and ethnic minority groups, highlighting health disparities in HS.
| S-EPMC11624158 | biostudies-literature
Project description:Past studies have found that racial and ethnic minorities are more likely than White drivers to be pulled over by the police for alleged traffic infractions, including a combination of speeding and equipment violations. It has been difficult, though, to measure the extent to which these disparities stem from discriminatory enforcement rather than from differences in offense rates. Here, in the context of speeding enforcement, we address this challenge by leveraging a novel source of telematics data, which include second-by-second driving speed for hundreds of thousands of individuals in 10 major cities across the United States. We find that time spent speeding is approximately uncorrelated with neighborhood demographics, yet, in several cities, officers focused speeding enforcement in small, demographically nonrepresentative areas. In some cities, speeding enforcement was concentrated in predominantly non-White neighborhoods, while, in others, enforcement was concentrated in predominately White neighborhoods. Averaging across the 10 cities we examined, and adjusting for observed speeding behavior, we find that speeding enforcement was moderately more concentrated in non-White neighborhoods. Our results show that current enforcement practices can lead to inequities across race and ethnicity.
| S-EPMC9802422 | biostudies-literature