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OBJECTIVE: To examine the employment status of those with and without visual impairment and eye disease and to examine the association between visual impairment and eye disease and a reduction in income over a 3-year period. DESIGN: Population-based prospective cohort study. PARTICIPANTS: A total of 12,174 nonretired participants aged 45-64 years old in the Canadian Longitudinal Study on Aging. METHODS: Visual impairment was defined if binocular presenting or pinhole-corrected monocular visual acuity in the better eye was worse than 20/40 at baseline. Self-reported diagnoses of age-related macular degeneration (AMD) and glaucoma were collected. Employment status (employed, not employed due to sickness or disability, or unemployed) was based on questions on labour force participation. Income reduction was defined as household income <$50,000 per year at follow-up when household income was ≥$50,000 at baseline. Multinomial and logistic regressions were used to adjust for demographic and health variables. RESULTS: Visual impairment using binocular presenting visual acuity (odds ratio [OR] = 2.09; 95% CI, 1.21-3.62) and pinhole-corrected visual acuity (OR = 2.99; 95% CI, 1.54-5.83) were associated with a higher odds of not being employed due to sickness or disability after adjustment. AMD (OR = 1.82; 95% CI, 1.11-3.01) and glaucoma (OR = 2.05; 95% CI, 1.28-3.28) at baseline were both associated with reductions in income over a 3-year period after adjustment. CONCLUSION: Individuals with visual impairment experienced lower employment, and those with AMD or glaucoma were more likely to have their incomes decline over 3 years. Policies to improve workplace participation by those with vision loss are needed.

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Background: The high rate of unemployment among individuals with vision impairment remains a pressing issue, even with the implementation of disability laws and coordinated effort to foster inclusive workplace. Employment integration challenges persist for people with vision impairment due to inaccessible job markets and workplaces. Objective: To create new knowledge from previous studies related to employment among people with vision impairment and to understand what has been explored and identify the gaps in employment integration. Method: A comprehensive search of six databases was conducted utilizing both index terms and keywords. The title and abstract of identified studies were screened, followed by a full-text screening using pre-set criteria. Only available peer-reviewed studies with a focus on employment and vision impairment were included, irrespective of location and publication year. Result: Of 2264 studies screened, only 43 studies were eligible for review and data extraction. Using thematic analysis, 8 key themes emerged: social support, disability rights and service systems, transition strategies and challenges, career, employment integration, employment environment, adaptive potential, and employment sustainability. These studies considered the perspectives of people living with vision impairment, rehabilitation practice, and employers. Identified gaps include transition strategies, workplace participation, the perception of colleagues, and work evolution. Conclusion: The primary focus of studies was on the individual factors that impact workplace integration; work environment impact was not explored in depth. The need to examine the readiness of the work environment is also importance because environmental factors can be modified according to the functional needs of people with vision impairment.

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PURPOSE: There are several ways to include "disability" in research studies, which can be confusing or overwhelming for researchers, community members, and students. The aim of this paper is to share conceptualizations of disability and how to ask about "disability" in research studies. The paper provides a general introduction and brief analysis of the methodological approaches which can be used. METHODS: We used reviews of the literature and extensive discussions to identify key articles, books, websites, and reports that provide guidance and examples of asking about disability in research. RESULTS: Four primary approaches to asking study participants about disability were identified. For each of these, we provide background information, key points about the ways to use the approach including tools that have been developed, and example studies. A comparison table provides a high-level overview of similarities and differences in approaches. Other approaches and tools were also identified and are briefly described. CONCLUSION: Researchers involved in disability and rehabilitation research should be aware that there is not one best or singular way to ask about disability when conducting research. The approach or approaches chosen for a particular study need to match the purpose of the study. It is important that researchers take time to carefully consider their options and choose the best fit for their study.

There are several different ways to ask about disability and functioning when conducting research that aims to include a disability component or focus.Researchers need to carefully select the best option(s) for their study.Whenever possible, researchers should use more than one approach and should allow for more than one type of disability or impairment to be selected.Researchers often require training to understand how to include disability in research.Allow adequate time and resources for training research team members so that the tools are implemented correctly.

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Science, technology, engineering, mathematics, and medicine (STEMM) fields change rapidly and are increasingly interdisciplinary. Commonly, STEMM practitioners use short-format training (SFT) such as workshops and short courses for upskilling and reskilling, but unaddressed challenges limit SFT's effectiveness and inclusiveness. Education researchers, students in SFT courses, and organizations have called for research and strategies that can strengthen SFT in terms of effectiveness, inclusiveness, and accessibility across multiple dimensions. This paper describes the project that resulted in a consensus set of 14 actionable recommendations to systematically strengthen SFT. A diverse international group of 30 experts in education, accessibility, and life sciences came together from 10 countries to develop recommendations that can help strengthen SFT globally. Participants, including representation from some of the largest life science training programs globally, assembled findings in the educational sciences and encompassed the experiences of several of the largest life science SFT programs. The 14 recommendations were derived through a Delphi method, where consensus was achieved in real time as the group completed a series of meetings and tasks designed to elicit specific recommendations. Recommendations cover the breadth of SFT contexts and stakeholder groups and include actions for instructors (e.g., make equity and inclusion an ethical obligation), programs (e.g., centralize infrastructure for assessment and evaluation), as well as organizations and funders (e.g., professionalize training SFT instructors; deploy SFT to counter inequity). Recommendations are aligned with a purpose-built framework-"The Bicycle Principles"-that prioritizes evidenced-based teaching, inclusiveness, and equity, as well as the ability to scale, share, and sustain SFT. We also describe how the Bicycle Principles and recommendations are consistent with educational change theories and can overcome systemic barriers to delivering consistently effective, inclusive, and career-spanning SFT.

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Purpose: The objectives of this study were to determine the effects of hearing disability on employment rates; examine how various factors are associated with employment; and identify workplace accommodations available to persons with hearing disabilities in Canada.Material and methods: A population-based analysis was done using the data collected through the 2017 Canadian Survey on Disability (CSD), representing 6 million (n = 6 246 640) Canadians. A subset of the complete dataset was created focusing on individuals with a hearing disability (n = 1 334 520). Weighted descriptive and multivariate logistic regression analyses were performed.Results: In 2017, the employment rates for working-age adults with a hearing disability were 55%. Excellent general health status (OR: 3.37; 95% CI: 2.29-4.96) and daily use of the internet (OR: 2.70; 95% CI: 1.78-4.10) had the highest positive effect on the employment rates. The top three needed but least available accommodations were communication aids (16%), technical aids (19%), and accessible parking/elevator (21%).Conclusion: Employment rates for persons with a hearing disability are lower than the general population in Canada. Employment outcomes are closely associated with one's general health and digital skills. Lack of certain workplace accommodations may disadvantage individuals with a hearing disability in their employment.Implications for RehabilitationPeople with severe hearing disabilities and those with additional disabilities may need additional and more rigorous services and supports to achieve competitive employment.It is important for the government to improve efforts toward inclusive education and develop strategies that promote digital literacy for job seekers with hearing disabilities.Officials concerned with implementing employment equity policies in Canada should focus on finding strategies that enable employees to have supportive conversations with their employers regarding disability disclosure and obtaining required accommodations.

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Purpose: If an individual has been blind since birth due to a treatable eye condition, ocular treatment is urgent. Even a brief period of visual deprivation can alter the development of the visual system. The goal of our structured scoping review was to understand how we might better support children with delayed access to ocular treatment for blinding conditions. Method: We searched MEDLINE, Embase and Global Health for peer-reviewed publications that described the impact of early (within the first year) and extended (lasting at least 2 years) bilateral visual deprivation. Results: Of 551 reports independently screened by two authors, 42 studies met our inclusion criteria. Synthesizing extracted data revealed several trends. The data suggests persistent deficits in visual acuity, contrast sensitivity, global motion, and visual-motor integration, and suspected concerns for understanding complex objects and faces. There is evidence for resilience in color perception, understanding of simple shapes, discriminating between a face and non-face, and the perception of biological motion. There is currently insufficient data about specific (re)habilitation strategies to update low vision services, but there are several insights to guide future research in this domain. Conclusion: This summary will help guide the research and services provision to help children learn to see after early and extended blindness.

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BACKGROUND: Many individuals with disabilities face barriers to meaningful employment. Legislation has been put in place to ensure employment equity for individuals with disabilities in Canada. However, little is known about the employment profile and experiences of people with seeing disabilities. OBJECTIVES: The objectives of our research study were to explore the employment rates of people with seeing disabilities in Canada, the factors associated with being employed, and supports and barriers that affect their work participation. METHODS: We used the nationally representative data from the Canadian Survey on Disability (CSD) 2017, collected by Statistics Canada. The CSD is a national cross-sectional survey of Canadians 15 years of age and above who face a functional limitation due to a health-related condition, representing more than 6 million (n = 6,246,640) Canadians. Our analyses focused on people who reported having a seeing disability. A subset of the complete dataset was created, focusing on individuals with a seeing disability. Weighted descriptive analyses were performed using SPSS. Multivariate logistic regression analyses were conducted for individuals between 25-64 years of age to identify predictors of employment. RESULTS: Out of the estimated 892,220 working-age adults (25-64 years) with a seeing disability who were represented by the survey, 54% were employed, 6% were unemployed and 40% were not in the labour force. Early onset of seeing disability (OR: 1.33; 95% CI: 1.32-1.35), less severe seeing disability (OR: 1.51; 95% CI: 1.49-1.53), education above high school (OR: 2.00; 95% CI: 1.97-2.02) and daily use of the internet (OR: 2.46; 95% CI: 2.41-2.51) were positively related with employment. The top three employment accommodations that were needed and were made available included: modified work hours (45%); work from home (38.5%) and a modified workstation (37%). The top three needed but least available accommodations were technical aids (14%), communication aids (22%) and a computer with specialized software or adaptation (27%). Overall, 26% reported that an accommodation was required but was not made available by the employer. While 75% of individuals with a seeing disability were out of the labour force due to their condition, the remaining identified barriers that prevented them from working which included (top 3): (i) too few jobs available (20%); (ii) inadequate training/experience (19%), (iii) past attempts at finding employment were unsuccessful (19%). CONCLUSION: Adults with seeing disability in Canada experience lower labour force participation than the general population. Rigorous programs are required to assist them with the job search, job retraining and workplace accommodations. It is important for governments to improve efforts towards inclusive education and develop strategies that promote digital literacy of employees and job seekers with visual impairments. Although accessibility legislations have been put in place, programs should be established that provide accessibility solutions for various employers, enabling them to hire individuals with different abilities.

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BACKGROUND: Youth with disabilities encounter many challenges during their transition to adulthood including finding employment. Jobs are often inaccessible, and youth often face a lack of support, discriminatory attitudes, and sometimes low self-confidence. Therefore, it is critical to help youth enhance their self-determination skills to advocate for their needs in the workplace. OBJECTIVE: The aim of this paper is to describe how an online toolkit aimed to improve self-determination in advocating for needs, including disability disclosure and accommodation requests to employers, was co-created with youth with disabilities. METHODS: We will use a mixed method design in which qualitative data (ie, focus groups and mentored discussion forum) are collected to understand the contextual factors during the intervention that could affect outcomes or explain results through the pre-post questionnaires. Fifty youths with disabilities aged 15 to 24 years will be recruited. RESULTS: Data collection is in progress. Planned analyses include focus groups and pre-post surveys to determine the impact of the intervention on self-determination. A qualitative content analysis of the focus groups and all open-ended survey questions will be conducted to understand the impact of the toolkit. CONCLUSIONS: Our online toolkit includes evidence-informed content that was co-created with youth who have a disability. It has potential for educational and vocational programming for youth with disabilities. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/20463.

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A common rationale in molecular diagnostic laboratories is that implementation of next-generation sequencing (NGS) enables simultaneous multigene testing, allowing increased information benefit compared with non-NGS assays. However, minimal published data exist to support this justification. The current study compared clinical diagnostic yield of TruSight Tumor 26 Sequencing Panel (TST26) in melanoma, colorectal (CRC), and gastrointestinal stromal (GIST) tumors with non-NGS assays. A total of 1041 formalin-fixed, paraffin-embedded tumors, of melanoma, CRC, and GIST, were profiled. NGS results were compared with non-NGS single-gene or single-variant assays with respect to variant output and diagnostic yield. A total of 79% melanoma and 94% CRC tumors were variant positive by panel testing. TST26 panel improved serine/threonine-protein kinase B-raf (BRAF) variant detection in melanoma compared with single-variant BRAF Val600Glu/Lys (V600E/K) routine tests by 24% and detected variants in genes other than BRAF, NRAS, and KIT, which could impact patient management in 20% additional cases. NGS enhanced diagnostic yield in CRC by 36% when compared with routine single-gene assays. In contrast, no added benefit of NGS-based testing for GIST tumors was observed. TST26 panel either missed or inaccurately called complex insertion/deletion variants in KIT exon 11, which were accurately identified by non-NGS methods. Findings of this study demonstrate the differential impact of cancer site and variant type on diagnostic test information yield from NGS assays.

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Prognostic biomarkers for recurrence of Oral Squamous Cell Carcinoma (OSCC) are urgently needed. We aimed to independently validate a 4-gene expression signature (MMP1, COL4A1, P4HA2, THBS2) predictive of OSCC recurrence risk. Gene expression was measured using Nanostring nCounter® in 245 histologically normal surgical resection margins from 62 patients. Association between risk scores for individual patients and recurrence was assessed by Kaplan-Meier analysis. Signature performance was quantified by concordance index (CI), hazard ratio (HR) and the area under receiver operating characteristics (AUC). Risk scores for recurrence were significantly higher than recurrence-free patients (p = 9.58e-7, Welch's t-test). A solid performance of the 4-gene signature was determined: CI = 0.64, HR = 3.38 (p = 1.4E-4; log-rank test), AUC = 0.71. We showed that three margins per patient are sufficient to preserve predictive performance (CI = 0.65; HR = 2.92; p = 2.94e-3; AUC = 0.71). Association between the predicted risk scores and recurrence was assessed and showed HR = 2.44 (p = 9.6E-3; log-rank test, N = 62). Signature performance analysis was repeated using an optimized threshold (70th percentile of risks), resulting in HR = 3.38 (p = 1.4E-4; log-rank test, N = 62). The 4-gene signature was validated as predictive of recurrence risk in an independent cohort of patients with resected OSCC and histologically negative margins, and is potentially applicable for clinical decision making on adjuvant treatment and disease monitoring.

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While comparison of primary tumor and metastases has highlighted genomic heterogeneity in colorectal cancer (CRC), previous studies have focused on a single metastatic site or limited genomic testing. Combining data from whole exome and ultra-deep targeted sequencing, we explored possible evolutionary trajectories beyond the status of these mutations, particularly among patient-matched metastatic tumors. Our findings confirm the persistence of known clinically-relevant mutations (e.g., those of RAS family of oncogenes) in CRC primary and metastases, yet reveal that latency and interval systemic therapy affect the course of evolutionary events within metastatic lesions. Specifically, our analysis of patient-matched primary and multiple metastatic lesions, developed over time, showed a similar genetic composition for liver metastatic tumors, which were 21-months apart. This genetic makeup was different from those identified in lung metastases developed before manifestation of the second liver metastasis. These results underscore the role of latency in the evolutionary path of metastatic CRC and may have implications for future treatment options.

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A common approach in clinical diagnostic laboratories to variant assessment from tumor molecular profiling is sequencing of genomic DNA extracted from both tumor (somatic) and normal (germline) tissue, with subsequent variant comparison to identify true somatic variants with potential impact on patient treatment or prognosis. However, challenges exist in paired tumor-normal testing, including increased cost of dual sample testing and identification of germline cancer predisposing variants. Alternatively, somatic variants can be identified by in silico tumor-only variant filtration precluding the need for matched normal testing. The barrier to tumor-only variant filtration is defining a reliable approach, with high sensitivity and specificity to identify somatic variants. In this study, we used retrospective data sets from paired tumor-normal samples tested on small (48 gene) and large (555 gene) targeted next-generation sequencing panels, to model algorithms for tumor-only variants classification. The optimal algorithm required an ordinal filtering approach using information from variant population databases (1000 Genomes Phase 3, ESP6500, ExAC), clinical mutation databases (ClinVar), and information on recurring clinically relevant somatic variants. Overall the tumor-only variant filtration strategy described in this study can define clinically relevant somatic variants from tumor-only analysis with sensitivity of 97% to 99% and specificity of 87% to 94%, and with significant potential utility for clinical laboratories implementing tumor-only molecular profiling.

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There is a paucity of data regarding the impact of mutations on outcomes in accelerated-phase (AP) and blast-phase (BP) myeloproliferative neoplasms (MPNs). Moreover, it is unknown whether mutational status affects survival, as seen in chronic-phase MPNs. Therefore, we performed a retrospective analysis of all patients treated at our institution with AP/BP MPNs (N = 122; AP = 14; BP = 108) to comprehensively describe the mutational profile and correlate with clinical outcomes. Targeted sequencing with a 54-gene panel was performed. Forty-four patients were treated with intensive therapy, 27 with nonintensive therapy, and 51 with best supportive care (BSC). The most common mutation was JAK2V617F, occurring in 55% of subjects; CALR was found in 13% of patients and MPL in 6%. Thirty-two (26%) patients were triple negative. Other frequently mutated genes were ASXL1 (30%), TET2 (25%), SRSF2 (22%), RUNX1 (20%), and TP53 (17%). Mutations in 1, 2, 3, and ≥4 genes were seen in 15%, 13%, 25%, and 46% of patients, respectively. There was no difference in survival between patients treated with intensive vs nonintensive therapy, and the benefit of intensive therapy was limited to patients who were able to undergo transplantation. TP53 was the only individual mutation to correlate with shorter overall survival (hazard ratio, 1.89; P = .03). In the multivariate analysis, mutated TP53, ≥4 mutations, low albumin, increased peripheral blood blasts, ≥3 cytogenetic abnormalities, and BSC were associated with shorter survival. In conclusion, mutational data enhance the understanding of patients with AP/BP MPN who are likely to benefit from current therapeutic options.

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We evaluated outcomes of 100 patients with high risk AML treated with Ida-FLAG induction as first-line therapy. 72 achieved remission with one cycle; 19 did not. High risk cytogenetics and TP53 mutations were associated with failure to achieve remission. In those reaching remission, allogeneic bone marrow transplantation was associated with better relapse-free and overall survival. Those not achieving remission with induction therapy were extremely unlikely to reach remission with further therapy and had a dismal prognosis. Exploratory molecular analysis confirmed persistence of the dominant genetic mutations identified at diagnosis. Ex vivo chemosensitivity did not demonstrate significant differences between responders and non-responders. Thus, Ida-FLAG induction has a high chance of inducing remission in patients with high risk AML. Those achieving remission require allogeneic transplantation to achieve cure; those not achieving remission rarely respond to salvage chemotherapy and have a dismal outcome. Alternatives to conventional chemotherapy must be considered in this group.

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PURPOSE: Fine-needle biopsy (FNB) and liquid biopsy are minimally invasive methods of tumor sampling that provide feasible means to assess tumor genotypes in real time. However, more data are needed to establish the strength of these methods by benchmarking against the current gold standard methods, core-needle biopsy (CNB) or surgical excision of the tumor. PATIENTS AND METHODS: Eligible patients with advanced solid tumors were prospectively recruited. We performed mutation profiling using matched tumor DNA obtained by CNB, FNB and liquid biopsy, and matrix-assisted laser desorption/ionization time-of-flight custom mass-spectrometry or targeted next-generation DNA sequencing. The actionability of detected mutations was determined using the OncoKB Web tool. Agreement between mutations detected in CNBs, FNBs, and circulating tumor DNA (ctDNA) was examined. RESULTS: Forty-one patients underwent tumor biopsy. Thirty CNBs (73%) and 34 FNBs (83%) had sufficient tumor and DNA for mutation profiling. Median DNA yield from CNB and FNB were 775 ng (interquartile range, 240 to 347 4ng) and 649 ng (interquartile range, 180 to1350 ng), respectively. Of 29 CNB/FNB pairs available for comparison, actionable mutation results were concordant in 28 (96%). Six of nine actionable mutations (67%) that were found by CNB, FNB, or both were detectable in ctDNA. Two additional actionable mutations were found exclusively in ctDNA. CONCLUSION: Optimally processed FNB and liquid biopsy can be used routinely for tumor mutation profiling to identify actionable mutations.

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Although next-generation sequencing (NGS) has helped characterize the complex genomic landscape of myeloid malignancies, its clinical utility remains undefined. This has resulted in variable funding for NGS testing, limiting its accessibility. At our center, targeted sequencing (TAR-SEQ) using a 54-gene NGS myeloid panel is offered to all new patients referred for myeloid malignancies, as part of a prospective observational study. Here, we evaluated the diagnostic, prognostic, and potential therapeutic utility of clinical grade TAR-SEQ in the routine workflow of 179 patients with myeloproliferative neoplasms (MPN). Of 13 patients with triple negative (TN) MPN, who lacked driver mutations in JAK2, CALR, and MPL, TAR-SEQ confirmed clonal hematopoiesis in 8 patients. In patients with intermediate-risk myelofibrosis (MF), TAR-SEQ helped optimize clinical decisions in hematopoietic cell transplant (HCT)-eligible patients through identifying a high molecular risk (HMR) mutation profile. The presence of an HMR profile favored HCT in 9 patients with intermediate-1 risk MF. Absence of an HMR profile resulted in a delayed HCT strategy in 10 patients with intermediate-2 risk MF, 7 of which were stable at the last follow-up. Finally, TAR-SEQ identified patients with various targetable mutations in IDH1/2 (4%), spliceosome genes (28%), and EZH2 (7%). Some of these patients can be potential candidates for future targeted therapy trials. In conclusion, we have demonstrated that TAR-SEQ improves the characterization of TN MPN, can be integrated in clinical practice as an additional tool to refine decision making in HCT, and has the potential to identify candidates for future targeted therapy trials.

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AIMS: A standard approach in test evaluation is to compare results of the assay in validation to results from previously validated methods. For quantitative molecular diagnostic assays, comparison of test values is often performed using simple linear regression and the coefficient of determination (R2), using R2 as the primary metric of assay agreement. However, the use of R2 alone does not adequately quantify constant or proportional errors required for optimal test evaluation. More extensive statistical approaches, such as Bland-Altman and expanded interpretation of linear regression methods, can be used to more thoroughly compare data from quantitative molecular assays. METHODS: We present the application of Bland-Altman and linear regression statistical methods to evaluate quantitative outputs from next-generation sequencing assays (NGS). NGS-derived data sets from assay validation experiments were used to demonstrate the utility of the statistical methods. RESULTS: Both Bland-Altman and linear regression were able to detect the presence and magnitude of constant and proportional error in quantitative values of NGS data. Deming linear regression was used in the context of assay comparison studies, while simple linear regression was used to analyse serial dilution data. Bland-Altman statistical approach was also adapted to quantify assay accuracy, including constant and proportional errors, and precision where theoretical and empirical values were known. CONCLUSIONS: The complementary application of the statistical methods described in this manuscript enables more extensive evaluation of performance characteristics of quantitative molecular assays, prior to implementation in the clinical molecular laboratory.

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CONTEXT: - Detection of variants in hematologic malignancies is increasingly important because of a growing number of variants impacting diagnosis, prognosis, and treatment response, and as potential therapeutic targets. The use of next-generation sequencing technologies to detect variants in hematologic malignancies in a clinical diagnostic laboratory setting allows for efficient identification of routinely tested markers in multiple genes simultaneously, as well as the identification of novel and rare variants in other clinically relevant genes. OBJECTIVE: - To apply a systematic approach to evaluate and validate a commercially available next-generation sequencing panel (TruSight Myeloid Sequencing Panel, Illumina, San Diego, California) targeting 54 genes. In this manuscript, we focused on the parameters that were used to evaluate assay performance characteristics. DATA SOURCES: - Analytical validation was performed using samples containing known variants that had been identified previously. Cases were selected from different disease types, with variants in a range of genes. Panel performance characteristics were assessed and genomic regions requiring additional analysis or wet-bench approaches identified. CONCLUSIONS: - We validated the performance characteristics of a myeloid next-generation sequencing panel for detection of variants. The TruSight Myeloid Sequencing Panel covers more than 95% of target regions with depth greater than 500×. However, because of unique variant types such as large insertions or deletions or genomic regions of high GC content, variants in CEBPA, FLT3, and CALR required supplementation with non-next-generation sequencing assays or with informatics approaches to address deficiencies in performance. The use of multiple bioinformatics approaches (2 variant callers and informatics scripts) allows for maximizing calling of true positives, while identifying limitations in using either method alone.

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