Dataset Information

CEDRA: A Tool to Help Consumers Assess Risk for Ear Disease.

ABSTRACT: This article introduces the Consumer Ear Disease Risk Assessment (CEDRA) tool. CEDRA is a brief questionnaire designed to screen for targeted ear diseases. It offers an opportunity for consumers to self-screen for disease before seeking a hearing device and may be used by clinicians to help their patients decide the appropriate path to follow in hearing healthcare. Here we provide highlights of previously published validation in the context of a more thorough description of CEDRA's development and implementation. CEDRA's sensitivity and specificity, using a cut-off score of 4 or higher, was 90% and 72%, respectively, relative to neurotologist diagnoses in the initial training sample used to create the scoring algorithm (n = 246). On a smaller independent test sample (n = 61), CEDRA's sensitivity and specificity were 76% and 80%, respectively. CEDRA has readability levels similar to many other patient-oriented questionnaires in hearing healthcare, and informal reports from pilot CEDRA-providers indicate that the majority of patients can complete it in less than 10?min. As the hearing healthcare landscape changes and provider intercession is no longer mandated, CEDRA provides a measure of safety without creating a barrier to access.

SUBMITTER: Klyn NAM

PROVIDER: S-EPMC6774904 | biostudies-literature | 2019 Nov/Dec

REPOSITORIES: biostudies-literature

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CEDRA: A Tool to Help Consumers Assess Risk for Ear Disease.

Klyn Niall A M NAM Kleindienst Robler Samantha S Bogle Jamie J Alfakir Razan R Nielsen Donald W DW Griffith James W JW Carlson Deborah L DL Lundy Larry L Dhar Sumitrajit S Zapala David A DA

Ear and hearing 20191101 6

This article introduces the Consumer Ear Disease Risk Assessment (CEDRA) tool. CEDRA is a brief questionnaire designed to screen for targeted ear diseases. It offers an opportunity for consumers to self-screen for disease before seeking a hearing device and may be used by clinicians to help their patients decide the appropriate path to follow in hearing healthcare. Here we provide highlights of previously published validation in the context of a more thorough description of CEDRA's development a ...[more]

PMID: 30946136

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Project description:BackgroundGermline pathogenic variants in the breast cancer type 1 susceptibility gene BRCA1 are associated with a 60% lifetime risk for breast and ovarian cancer. This overall risk estimate is for all BRCA1 variants; obviously, not all variants confer the same risk of developing a disease. In cancer patients, loss of BRCA1 function in tumor tissue has been associated with an increased sensitivity to platinum agents and to poly-(ADP-ribose) polymerase (PARP) inhibitors. For clinical management of both at-risk individuals and cancer patients, it would be important that each identified genetic variant be associated with clinical significance. Unfortunately for the vast majority of variants, the clinical impact is unknown. The availability of results from studies assessing the impact of variants on protein function may provide insight of crucial importance.Results and conclusionWe have collected, curated, and structured the molecular and cellular phenotypic impact of 3654 distinct BRCA1 variants. The data was modeled in triple format, using the variant as a subject, the studied function as the object, and a predicate describing the relation between the two. Each annotation is supported by a fully traceable evidence. The data was captured using standard ontologies to ensure consistency, and enhance searchability and interoperability. We have assessed the extent to which functional defects at the molecular and cellular levels correlate with the clinical interpretation of variants by ClinVar submitters. Approximately 30% of the ClinVar BRCA1 missense variants have some molecular or cellular assay available in the literature. Pathogenic variants (as assigned by ClinVar) have at least some significant functional defect in 94% of testable cases. For benign variants, 77% of ClinVar benign variants, for which neXtProt Cancer variant portal has data, shows either no or mild experimental functional defects. While this does not provide evidence for clinical interpretation of variants, it may provide some guidance for variants of unknown significance, in the absence of more reliable data. The neXtProt Cancer variant portal ( https://www.nextprot.org/portals/breast-cancer ) contains over 6300 observations at the molecular and/or cellular level for BRCA1 variants.

Dataset Information

CEDRA: A Tool to Help Consumers Assess Risk for Ear Disease.

Publications

CEDRA: A Tool to Help Consumers Assess Risk for Ear Disease.

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