Disparities In Genetic Testing Research Articles

Disparities in Genetic Management of Breast and Ovarian Cancer Patients.

Hereditary breast and ovarian cancer syndrome (HBOC) is most often caused by pathogenic variants in the BRCA1 or BRCA2 genes. Guidelines exist for genetic testing in patients at high risk, yet significant disparities in genetic testing and management remain. These disparities result in missed opportunities for cancer prevention and treatment. This review details the multiple layers of disparities in genomic knowledge, testing referral, completion, and posttesting risk reduction for at-risk populations. A comprehensive search of the PubMed database was conducted in September 2023 for studies addressing disparities at all points of HBOC risk assessment and risk reduction. Disparities in genomic knowledge, referral and testing, and in cancer risk reduction exist by race, ethnicity, insurance status, socioeconomic status, age, and care setting in the United States. Many mitigation strategies have been explored with some success. Each component contributes to a "leaky pipe" in BRCA testing and management whereby patients eligible for intervention trickle out of the pipe due to inequities at each step. Implementation of proven strategies aimed at disparity reduction in this setting is essential, as well as additional strategy development. This review provides clinicians with a comprehensive understanding of disparities in the identification and management of individuals at risk for or diagnosed with HBOC and strategies to reduce disparities in their own practice.

Implementing a genetic testing station in a safety net setting for equitable genetic testing and counseling.

167 Background: Genetic testing (GT) in patients with hereditary cancers has significant implications for treatment options and risk reduction among family members. Recent GT guidelines have expanded the eligibility criteria with limited genetic counseling staff. Patients who are from marginalized groups, are under or uninsured, or have limited English proficiency continue to experience disparities in GT, underscoring the need for innovations in care delivery. Methods: From March 2021 to June 2023, we conducted a single-arm intervention study of a point-of-care genetic testing station (GTS) in a safety net hospital. Patients who met NCCN criteria for GT were eligible. We compared this group to a historical cohort who received GT either in person or via telehealth in the preceding two years and non- GTS cohort. The GTS intervention consisted of (1) screening of clinic schedules for eligible patients, (2) GT video-based education in English, Spanish, and Cantonese, (3) consent and collection of blood or saliva samples by a genetic counseling assistant, and (4) telehealth-based post-test counseling with a genetic counselor (GC). The historical cohort underwent GT in a traditional model: (1) oncologist-initiated electronic referral, (2) pretest counseling with a GC, (3) GT if appropriate, and (4) post-test counseling to review and discuss results. Our primary outcomes were completion of GT and time to result delivery. We evaluated all associations with the Chi-square test for categorical variables. Results: We enrolled a total of 256 participants, 26% were Asian, 18% were Black, 30% were Hispanic/Latinx, 13% were Non-Hispanic White, and 2% were Native Hawaiian/Pacific Islander. The most common languages were English 48%, Spanish 28%, Cantonese 20%, and Other 4%. 251 (98%) of GTS participants completed GT, and 241 (95%) completed the post-test GC visit, compared to the Non-GTS cohort (79%, p<0.001), pre-GTS cohort (85%, p<0.001) with traditional GT model with in-person at 122 (95%) and telehealth (72%). The median time to result delivery was 35 days (IQR 27 - 52) for the GTS cohort, 56 days for non-GTS cohort, 97 days for pre-GTS telehealth (IQR 24.7 - 111), and 21 days ( IQR 14-31) days for in-person. Conclusions: GTS resulted in more patients completing GT and promptly receiving their results with telehealth genetic counseling. As GT eligibility criteria broaden, innovative interventions, workflows, and tailored educational resources for diverse populations are needed to ensure equitable access to GT.

Differential Receipt of Genetic Services Among Patients With Gynecologic Cancer and Their Relatives: A Review of Challenges to Health Equity.

Up to 14% of endometrial cancers and 23% of epithelial ovarian cancers are associated with genetic predispositions. Referral for genetic testing and counseling can significantly impact a patient's oncologic outcomes. However, significant disparities in genetic referral and testing exist within medically underserved and minority populations in the United States. These disparities in care and access to care are multifactorial, often involving patient-level, health care-level, and system-level factors. In this review, we focus on disparities in genetic testing among patients with ovarian and uterine cancer, and the missed opportunities for primary cancer prevention among their relatives.

Disparities in Genetic Testing for Neurologic Disorders.

Disparities in Genetic Testing for Neurologic Disorders.

Racial Differences in Germline Genetic Testing Completion Among Males With Pancreatic, Breast, or Metastatic Prostate Cancers.

Germline genetic testing is a vital component of guideline-recommended cancer care for males with pancreatic, breast, or metastatic prostate cancers. We sought to determine whether there were racial disparities in germline genetic testing completion in this population. This retrospective cohort study included non-Hispanic White and Black males with incident pancreatic, breast, or metastatic prostate cancers between January 1, 2019, and September 30, 2021. Two nationwide cohorts were examined: (1) commercially insured individuals in an administrative claims database, and (2) Veterans receiving care in the Veterans Health Administration. One-year germline genetic testing rates were estimated by using Kaplan-Meier methods. Cox proportional hazards regression was used to test the association between race and genetic testing completion. Causal mediation analyses were performed to investigate whether socioeconomic variables contributed to associations between race and germline testing. Our cohort consisted of 7,894 males (5,142 commercially insured; 2,752 Veterans). One-year testing rates were 18.0% (95% CI, 16.8%-19.2%) in commercially insured individuals and 14.2% (95% CI, 11.5%-15.0%) in Veterans. Black race was associated with a lower hazard of testing among commercially insured individuals (adjusted hazard ratio [aHR], 0.73; 95% CI, 0.58-0.91; P=.005) but not among Veterans (aHR, 0.99; 95% CI, 0.75-1.32; P=.960). In commercially insured individuals, income (aHR, 0.90; 95% CI, 0.86-0.96) and net worth (aHR, 0.92; 95% CI, 0.86-0.98) mediated racial disparities, whereas education (aHR, 0.98; 95% CI, 0.94-1.01) did not. Overall rates of guideline-recommended genetic testing are low in males with pancreatic, breast, or metastatic prostate cancers. Racial disparities in genetic testing among males exist in a commercially insured population, mediated by net worth and household income; these disparities are not seen in the equal-access Veterans Health Administration. Alleviating financial and access barriers may mitigate racial disparities in genetic testing.

Disparities in Genetic Testing for Neurologic Disorders.

Genetic testing is now the standard of care for many neurologic conditions. Health care disparities are unfortunately widespread in the US health care system, but disparities in the utilization of genetic testing for neurologic conditions have not been studied. We tested the hypothesis that access to and results of genetic testing vary according to race, ethnicity, sex, socioeconomic status, and insurance status for adults with neurologic conditions. We analyzed retrospective data from patients who underwent genetic evaluation and testing through our institution's neurogenetics program. We tested for differences between demographic groups in 3 steps of a genetic evaluation pathway: (1) attending a neurogenetic evaluation, (2) completing genetic testing, and (3) receiving a diagnostic result. We compared patients on this genetic evaluation pathway with the population of all neurology outpatients at our institution, using univariate and multivariable logistic regression analyses. Between 2015 and 2022, a total of 128,440 patients were seen in our outpatient neurology clinics and 2,540 patients underwent genetic evaluation. Black patients were less than half as likely as White patients to be evaluated (odds ratio [OR] 0.49, p < 0.001), and this disparity was similar after controlling for other demographic factors in multivariable analysis. Patients from the least wealthy quartile of zip codes were also less likely to be evaluated (OR 0.67, p < 0.001). Among patients who underwent evaluation, there were no disparities in the likelihood of completing genetic testing, nor in the likelihood of a diagnostic result after adjusting for age. Analyses restricted to specific indications for genetic testing supported these findings. We observed unequal utilization of our clinical neurogenetics program for patients from marginalized and minoritized demographic groups, especially Black patients. Among patients who do undergo evaluation, all groups benefit similarly from genetic testing when it is indicated. Understanding and removing barriers to accessing genetic testing will be essential to health care equity and optimal care for all patients with neurologic disorders.

Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.

The increasingly rapid pace of advancement in genetic testing may lead to inequalities in technical and human resources with a negative impact on optimal epilepsy clinical practice. In this view, the European Reference Network (ERN) for Rare and Complex Epilepsies EpiCARE conducted a survey addressing several aspects of accessibility, availability, costs, and standard practices on genetic testing across ERN EpiCARE centers. An online Google form was sent to 70 representatives of ERN EpiCARE centers. Descriptive statistics and qualitative analysis were used for data presentation. We received 45 responses (1/center) representing 23 European countries with a better representation of Western Europe. Forty-five percent of the centers did not have access to all available types of genetic testing, mainly reflecting the limited availability of whole-genome sequencing (WGS). Thirty-five percent of centers report cost coverage only for some of the available tests, while costs per test varied significantly (interquartile range IQR ranging from 150 to 1173 euros per test across centers). Urgent genetic testing is available in 71.7% of countries (time-to-urgent result: 2 day to 2 months). The average time-to-result of specific tests in case of non-urgent prescription has a significant variance across centers, with the biggest range observed for whole-exome sequencing (6-128 weeks, IQR: 27 weeks). The percentage of agreement among the experts regarding the choice of genetic test at first intention in specific clinical situations was in all cases less than 50 percent (34.9% to 47% according to the proposed scenarios). Costs, time to deliver the results to the clinician, and type of first-line genetic testing vary widely across Europe, even in countries where ERN EpiCARE centers are present. Increased availability of genetic tests and guidance for optimal test choices in epilepsy remains essential to avoid diagnostic delays and excess health costs. The survey of the ERN EpiCARE highlights disparities in genetic testing for epilepsy across 45 ERN EpiCARE centers in 23 European countries. The findings reveal variable access to certain genetic tests, with lowest access to WGS. Costs and time-to-results vary widely. Urgent genetic testing is available in 71.7% of countries. Agreement among experts on first-line genetic tests for specific patient scenarios is below 50%. The study emphasizes the need for improved test availability and guidance to avoid diagnostic delays and unnecessary costs. EpiCARE has the mission to contribute in homogenizing best practices across Europe.

Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives.

Background Hereditary cardiomyopathies are commonly occurring myocardial conditions affecting heart structure and function with a genetic or familial association, but the etiology is often unknown. Cardiomyopathies are linked to significant mortality, requiring robust risk stratification with genetic testing and early diagnosis. Hypothesis We hypothesized that health care disparities exist in genetic testing for hereditary cardiomyopathies within clinical practice and research studies. Methods In a narrative fashion, we conducted a literature search with online databases such as PubMed/MEDLINE, Google Scholar, EMBASE, and Science Direct on papers related to hereditary cardiomyopathies. A comprehensive analysis of findings from articles in English on disparities in diagnostics and treatment was grouped into four categories. Results Racial and ethnic disparities in research study enrollment and health care delivery favor White populations and higher socioeconomic status, resulting in differences in the development and implementation of effective genetic screening. Such disparities have shown to be detrimental, as minorities often suffer from disease progression to heart failure and sudden cardiac death. Barriers related to clinical genetic testing included insurance-related issues and health illiteracy. The underrepresentation of minority populations extends to research methodologies, as testing in ethnic minorities resulted in a significantly lower detection rate and diagnostic yield, as well as a higher likelihood of misclassification of variants. Conclusions Prioritizing minority-based participatory research programs and screening protocols can address systemic disparities. Diversifying research studies can improve risk stratification strategies and impact clinical practice.

Racial Disparities in Accessing Care along the Continuum of Cancer Genetic Service Delivery.

Public health calls to ensure equity in genomics and precision medicine necessitate a closer examination of how these efforts might differentially affect access to genetic services across demographic subgroups. This study set out to examine racial/ethnic disparities along the cancer genetic service delivery continuum. Retrospective data are drawn from 15 clinical sites across 6 U.S. States. Individuals who screened at-risk for hereditary cancer were: (i) referred/scheduled to see a genetic counselor (referral workflow), or (ii) offered genetic testing at the point-of-care (POC testing workflow). Logistic regression analyses evaluated the associations between race/ethnicity and several outcomes including appointment scheduling, genetic counseling, and genetic testing, controlling for demographics, clinical factors, and county-level covariates. A total of 14,527 patients were identified at-risk. Genetic testing uptake was significantly higher at POC sites than referral sites (34% POC vs. 11% referral, P < 0.001). Race/ethnicity was significantly associated with testing uptake among all sites, with non-Hispanic Blacks having lower odds of testing compared with non-Hispanic Whites [aOR = 0.84; 95% confidence interval (CI), 0.71-1.00; P = 0.049]. Moreover, this disparity was observed at referral sites, but not POC sites. Among patients scheduled, non-Hispanic Blacks had lower odds of counseling (aOR = 0.28; 95% CI, 0.17-0.47; P < 0.001). Findings suggest that factors influencing genetic counseling show rates may be driving disparities in genetic testing. Strategies to reduce barriers to seeing a genetic counselor, including modifications to clinical workflow, may help mitigate racial/ethnic disparities in genetic testing.

Modeling genetic testing (GT) attitudes in a socio-demographically diverse cohort of patients (pts) with cancer: The importance of race/ethnicity and medical mistrust (MM).

10562 Background: Germline GT and tumor genomics are relevant to the care of nearly every cancer pt. These tests inform treatment planning by NGS-based tumor genomic profiling (TGP) and hereditary risk assessment. Socioeconomic and race-based disparities in GT are well-known, but the impact of growing MM, fueled by political polarization and social unrest due to overt and institutional racism, has been less studied. In previous research of African American (AA) cancer pts, we identified a consistent association of high levels of MM with negative attitudes toward GT. To inform development of an intervention to support informed decisions about GT in cancer pts, we further characterized the relationship of MM to GT attitudes. Methods: Pts from two Fox Chase Cancer Center (FCCC) sites were recruited (6/2022-12/2022) to complete a cross-sectional survey (n=105, Burholme campus; n=95, Temple University Hospital). A stratified purposive sampling method was employed. Data on pt demographics and disease factors were collected. MM was queried with two validated measures: LaVeist MM Index (MMI: range 0-10, measures healthcare/institution MM) and Thompson Group Based MM Scale (GBMMS: range 1-5, measures race/ethnicity specific MM; suspicion, discrimination, and lack of support subscales). Attitudes toward GT (GTpros=6 items/GTcons=11 items) were measured w/a validated scale (Morren: range 0-10) plus 4 items developed by our team. The study was approved by the FCCC IRB 22-8003. Results: Median age of pts was 62 yrs (range 25-91); 62% were female, 47% AA, 15% Hispanic, 42% married, 47% ≤high school grad, 52% had household income ≤$50K/yr. Mean GBMMS was 2.11 (SD 0.80) and mean MMI was 4.63 (SD 1.54). Mean of GTpros was 8.77 (SD 1.68); GTcons 4.16 (SD 2.32). MM was associated with race/ethnicity by GBMMS (p&lt;0.001) and MMI (p&lt;0.04), as were GBMMS subscales (suspicion, discrimination, lack of support, all p&lt;0.001). Race/ethnicity was not associated w/GTpros (p=0.59) but was w/GTcons (p&lt;0.001). In univariate models both GTpros and GTcons were associated with GBMMS (p=0.005 and p&lt;0.001, respectively) and MMI (p=0.002 and p&lt;0.001, respectively). In a multivariable model examining GTcons, GBMMS score remained significant (p&lt;0.001) even when controlling for race (p&lt;0.01) and an interaction btw race*mistrust. A similar model showed MMI score also remained significant (p=0.04) when controlling for race and interaction effects. Only the GBMMS suspicion subscale remained significant (p&lt;0.02) in a model with both race and an interaction term. Conclusions: MM is markedly more common among racial/ethnic minority cancer pts, but the relationship btw MM and GT attitudes is only partially rooted in race/ethnicity. Oncologists considering germline GT or tumor genomics for pts, and efforts to support informed decision-making, must consider the pervasiveness of MM.

Racial disparities in genetic testing in children with pediatric epilepsy (P3-9.012)

<h3>Objective:</h3> To evaluate the extent to which self -identified ethnic backgrounds acts as a barrier for children with epilepsy to receive genetic testing. <h3>Background:</h3> X <h3>Design/Methods:</h3> We retrospectively studied charts of children age 0–18 years diagnosed with childhood epilepsy between 2015–20 who have undergone any genetic testing at a tertiary care facility in RI. We compared rates of genetic tests between patient’s whose self-identified ethnic backgrounds included non-Black LatinX patients, Black patients, and White patients, using generalized linear mixed effects modeling. For the purpose of this study, we defined disparity as patients of different ethnic backgrounds receiving different rates of genetic testing despite similar rates of epilepsy. <h3>Results:</h3> Non-Black LatinX patients tended to have earlier age of seizure onset (M = 3.12 years,) relative to white patients (M = 4.24 years; RR = 0.74, p = 0.0608). Black patients tended toward slight older ages of seizure onset. Non-Black LatinX patients were more likely to complete genetic testing, specifically the karyotype test for patients with seizure onset before age two (OR = 3.82,p = 0.0276); and to some extent for patients with seizure onset after age two, the gene panel (OR = 2.41, p = 0.0767) and microarray tests (OR = 4.15, p = 0.0697). Black patients with seizure onset after age two also received more gene panel tests relative to white patients (OR = 6.42 p= 0.0103). <h3>Conclusions:</h3> Non-Black LatinX patients in particular may face worse epilepsy, perhaps due to a higher genetic predisposition, resulting in being offered and completing genetic work-up more frequently. However, we cannot rule out cultural differences playing a role such as limited healthcare access or lack of trust of health care providers. In summary, there was no evidence that there were barriers to patients of LatinX or Black ethnicity resulting in limited genetic epilepsy tests at our facility. <b>Disclosure:</b> Dr. Bonde has nothing to disclose. Dr. Tanzer has nothing to disclose. Lauren Massingham has nothing to disclose. Dr. Patil has nothing to disclose.

Casting a Wide Net While Building a Safety Net: Addressing Disparities in Genetic Testing for Hereditary Cancer.

Casting a Wide Net While Building a Safety Net: Addressing Disparities in Genetic Testing for Hereditary Cancer.

Abstract C039: Influence of patient ancestry on homologous recombination repair deficiency in cancer

Abstract Homologous recombination repair deficiency (HRD) is a common driver of tumorigenesis that carries therapeutic implications, particularly in breast, ovarian, prostate, and pancreatic cancers. The influence of genetic ancestry on the incidence of HRD in these tumors remains to be defined. Previous studies have reported a higher incidence of variants of unknown significance (VUS) in individuals of non-European ancestry. Here, we evaluated the frequency of HR-deficiency within a diverse cohort of 566 patients with breast, prostate, ovarian, or pancreatic cancer. Genetic ancestry was estimated from constitutional whole exome sequencing data using a single nucleotide polymorphism weight model containing five ancestral populations: European, Native American, African, East Asian, and South Asian. Frequencies of clinical genetic testing, germline variants in HR-genes, and tumor HRD were compared between individuals of admixed Native American and European ancestry (n=82) and those of European ancestry (n=378). Admixed Native American/European individuals had a younger age at diagnosis compared to individuals of European ancestry (median 52.4 years (range, 20.8-83.6) vs 62.9 years (range, 20.9-87.9), p&amp;lt;0.0001; two-tailed unpaired t-test), driven by a younger age of diagnosis in admixed Native American/European individuals with breast cancer. 22.6% of patients received genetic testing as part of their clinical care, with an increased rate of genetic testing in admixed Native American/European individuals with breast cancer, consistent with the younger age of diagnosis in this population. Among individuals who received clinical germline testing, there was no significant difference based on patient ancestry in the time from cancer diagnosis until germline testing was performed. In the cohort overall, individuals of admixed Native American/European ancestry and those of European ancestry had a similar frequency of both pathogenic/likely-pathogenic (P/LP) (8.5% vs 6.3%) and VUS (17.1% vs 15.1%) germline variants in HR genes. In breast cancer patients who were younger than 50 years at diagnosis, admixed Native American/European individuals showed a trend toward a higher frequency of P/LP events compared to European individuals (17.6% vs 7.0%, p=0.1722). The frequency of somatic variants in HR genes and the rate of tumor HR-deficiency were similar between patients of admixed Native American/European ancestry and those of European ancestry. In summary, in this retrospective analysis, women of admixed Native American/European ancestry showed a younger age of breast cancer diagnosis and a trend toward increased incidence of pathogenic or likely-pathogenic germline variants in HR genes compared to women of European ancestry. These data support a role for genetic ancestry influencing cancer risk and phenotypes. Additional studies evaluating the impact of genetic ancestry on HRD are needed to reduce disparities in genetic testing and improve application of therapies targeting HRD in diverse cancer populations. Citation Format: Sara A. Byron, Guangfa Zhang, Kimber Slater, Jiaming Zhang, Tyler Izatt, Bryce Turner, Xiao-Yu Xia, Rick A. Kittles, Jonathan J. Keats, Jeffrey M. Trent, Nicholas J. Schork, Lorna Rodriguez-Rodriguez. Influence of patient ancestry on homologous recombination repair deficiency in cancer [abstract]. In: Proceedings of the 15th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2022 Sep 16-19; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2022;31(1 Suppl):Abstract nr C039.

A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes

Nearly 14% of disease-causing germline variants result from disruption of mRNA splicing. Most (67%) DNA variants predicted in silico to disrupt splicing end up classified as variants of uncertain significance (VUS). We developed and validated an analytic workflow - Splice Effect Event Resolver (SPEER) - that uses mRNA sequencing to reveal significant deviations in splicing, pinpoints the DNA variants potentially responsible, and measures the deleterious effect of the altered splicing on mRNA transcripts, providing evidence to assess the pathogenicity of the variant. SPEER was used to analyze leukocyte RNA encoding 63 hereditary cancer syndrome genes in 20,317 individuals undergoing clinical genetic testing. Among 3,563 (17.5%) individuals with at least one DNA variant predicted to affect splicing, 971 (4.8%) had altered splicing with a deleterious effect on the transcript and 40 had altered splicing due to a DNA variant located outside our laboratory's reportable range. Integrating SPEER results into variant interpretation allowed reclassification of VUS to P/LP in 0.4% and to B/LB in 5.9% of the 20,317 patients. SPEER evidence had a significantly higher impact for P/LP and B/LB classifications in non-White individuals compared to non-Hispanic White individuals, illustrating that evidence derived from RNA splicing analysis may help reduce ethnic/ancestral disparities in genetic testing.

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing.

Nearly 3% of the population carries genetic variants that lead to conditions that include hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants account for approximately 20% of ovarian cancer cases, and those with germline pathogenic variants have an odds ratio between 4 and 40 for developing ovarian cancer compared with noncarriers. Given the high prevalence of genetic variants, multiple organizations, including ASCO, recommend universal genetic counseling and testing for women diagnosed with epithelial ovarian cancer. Unfortunately, most individuals with a hereditary ovarian cancer syndrome are unaware of their underlying mutation, and racial and ethnic minority individuals as well as patients of low socioeconomic status experience disproportionate rates of underrecognition, leading to late and missed diagnoses. In this article, we review the current understanding of disparities in genetic testing for people with ovarian cancer, the role of population-based genetic testing, and innovative strategies to overcome the critical inequities present in current cancer genetic medicine. Underuse and disparities related to accessing recommended genetic services are complex and multifactorial, requiring improvements in processes related to provider identification, genetic counseling and testing referral, and patient uptake/adherence. Through the expansion of remote genetic counseling, offering online strategies for genetic testing, and reaching at-risk relatives through direct relative contact cascade testing and population-based genetic testing, there are a growing number of innovations in the field of genetic medicine, many of which emphasize health equity and offer promising alternatives to the current paradigm of genetic testing.

Predictors of Population Awareness of Cancer Genetic Tests: Implications for Enhancing Equity in Engaging in Cancer Prevention and Precision Medicine.

A cross-sectional study was conducted from July 2019 to August 2019, with the survey e-mailed to 7,575 adult residents in southeastern Pennsylvania and New Jersey. Constructs from National Cancer Institute Health Information and National Trends Survey assessed cancer attitudes or beliefs, health literacy, and numeracy. Characteristics were summarized with mean ± standard deviation for numeric variables and frequency counts and percentages for categorical variables. Comparison of factors by race or ethnicity (non-Hispanic White and non-Hispanic Black) and sex was conducted by t-tests, chi-square, or Fisher's exact tests. Multivariate logistic regression models were conducted to identify factors independently predictive of GA. Of 1,557 respondents, data from 940 respondents (the mean age was 45 ± 16.2 years, 35.5% males, and 23% non-Hispanic Blacks) were analyzed. Factors associated with higher GA included female gender (P < .001), non-Hispanic White (P < .001), college education (P < .001), middle-higher income (P < .001), stronger belief in genetic basis of cancer (P < .001), lower cancer fatalism (P = .004), motivation for cancer information (P < .001), and higher numeracy (P = .002). On multivariate analysis, college education (odds ratio [OR] 1.79; 95% CI, 1.22 to 2.63), higher motivation for cancer information (OR 1.56; 95% CI, 1.17 to 2.09), stronger belief in genetics of cancer (OR 2.21; 95% CI, 1.48 to 3.30), and higher medical literacy (OR 2.21; 95% CI, 1.34 to 3.65) predicted greater GA. This population-based study conducted in the precision medicine era identified novel modifiable factors, importantly perceptions of cancer genetics and medical literacy, as predictive of GA, which informs strategies to promote equitable engagement in genetically based cancer care.

Disparities in genetic testing for women with ovarian cancer: a systematic review

<h3>Objectives:</h3> Despite the recommendation for genetic assessment for all women with ovarian cancer, the limited available data suggest significant disparities in referral and uptake of genetic services in minority populations. Additionally, the COVID-19 pandemic has exacerbated many existing health care disparities, making it even more critical that inequalities be identified and addressed. We sought to evaluate differences in genetic counseling and genetic testing among women with ovarian cancer based on race and insurance status. <h3>Methods:</h3> A complete systematic search of online databases (PubMed, EMBASE, MEDLINE, and the Cochrane Library) for studies reporting on genetic testing in ovarian cancer without date restriction was performed. Random effects pooled proportions were calculated using the logit transformation and 95% confidence intervals for individual study proportions were calculated using the Clopper-Pearson exact method. <h3>Results:</h3> The comprehensive search produced 3026 studies, among which 38 met inclusion criteria. Eight studies included analysis by self-reported race/ethnicity and 6 included analysis by insurance status. Among studies listing mean age of diagnosis, stage, and histology data, the median of the mean age of diagnoses across the studies was 63.3 years. The median proportion of patients with early stage (I/II) ovarian cancer was 14.7%, late stage (III/IV) 68.6%, and unknown stage 9.3%. The median proportion of patients with serous histology was 81.8%, endometrioid 12.6%, mucinous 5%, clear cell 5.8%, mixed 3.7%, carcinosarcoma 3%, and other/unknown histology 81.8%. Among 7,862 patients, 6,469 reported being White, 599 Black, and 794 Asian. Random-effects pooled proportions by race/ethnicity to follow: Among White patients, 43% [CI 26-62%] were referred for genetic counseling and 40% [CI 25-57%] completed testing, and for Black patients, 24% [CI 13-42%] were referred for counseling and 26% [CI 17-38%] completed testing. For Asian patients, 23% [CI 2-83%] were referred for counseling and 14% [CI 2-51%] completed testing, although only two studies included referral and testing proportions in Asian patients, with the majority of patient data coming from one study with referral proportion of 39% and another study with testing proportion of 31%. Among 7,681 patients, 5,320 (69%) had private insurance, 2,078 (27%) had Medicare/Medicaid, and 283 (4%) were uninsured. Random-effects pooled proportions by insurance status to follow: Among patients with private insurance, 39% [CI 26-54%] were referred for genetic counseling and 47% [CI 30-64%] completed testing. Among patients with Medicare/Medicaid, 27% [CI 18-38%] were referred for counseling and 26% [CI 16-40%] completed testing, and among uninsured patients, 24% [CI 13-41%] were referred for counseling and 23% [CI 18-28%] completed testing. Small sample and high study heterogeneity observed in the race and insurance data resulted in large confidence intervals in the pooled proportions of interest. <h3>Conclusions:</h3> Rates of genetic counseling and genetic testing are below national guidelines for all women with ovarian cancer. Our systematic review of the existing literature on this topic suggests that minority women and patients without private insurance may be disproportionally affected by lower referral rates and more limited access to genetic testing. This disparity is concerning as it can have significant impact on the health of the affected patient and her at-risk relatives.

Racial disparities in genetic testing of breast cancer patients.

10591 Background: TNBC is disproportionately prevalent in African American (AA) populations and in women with BRCA-1 germline mutations. BRCA mutation carriers are candidates for targeted therapy with PARP-inhibitors, and testing results may influence risk-reducing surgery choice. Methods: We evaluated genetic testing patterns and outcomes for TNBC patients treated in the prospectively maintained databases of academic cancer programs in two metropolitan cities in the Northeast (New York City, NYC) and Midwest (Detroit, Det), 1998-2018. Median follow up was 3.73 years. Testing patterns were also analyzed by time, comparing pts diagnosed before versus after the mid-2013 Supreme Court ruling that expanded testing availability by banning gene patenting. Results: Of 810 pts, 600 were from NYC and 200 from Det; 202 were AA and 488 WA. Pts undergoing genetic testing were younger (median age 50 vs 62; p &lt; 0.0001). Compared to WA, AA pts were less likely to undergo genetic testing overall (23.8% vs 42.0%; p &lt; 0.0001) and within site (NYC: 25.6% vs 42.8%, p = 0.008; Det: 22.3% vs 38.6%, p = 0.025). No significant differences were seen in frequency of pathogenic BRCA mutations (AA-14.6%; WA-29.3%) or VUSs (AA-6.3%; WA- 4.9%); p = 0.20. Genetic testing disparities were reduced among pts diagnosed after mid-2013 (AA-31.4% vs WA-44.0%; p = 0.01) compared to pre-mid-2013 (AA-18.3% vs WA-40.7%; p &lt; 0.0001). No differences were seen in local or distant recurrence free survival between patients with BRCA, BRCA variants of uncertain significance, non-BRCA mutations, and patients without genetic mutations (local recurrence p = 0.827; distant recurrence p = 0.574). This outcome equivalence was consistent when stratified by WA vs AA identity. Conclusions: Genetic testing has increased for TNBC pts following the mid-2013 Supreme Court ban on gene patenting, but race-associated disparities persist. Pts undergoing genetic testing are more likely to undergo risk-reducing mastectomy, but testing results do not affect survival outcomes, regardless of race. Addressing genetic testing disparities will become increasingly important as mutation-associated targeted therapies are identified through advances in precision medicine.

Worldwide barriers to genetic testing for movement disorders.

Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization. The Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members. Survey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe. This survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.

EP519 - Health disparities in genetic testing for patients receiving Government-funded insurance benefits

eP519 - Health disparities in genetic testing for patients receiving Government-funded insurance benefits