Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example

Purpose: Broadening access to genomic testing and counseling will be necessary to realize the benefits of personalized health care. This study aimed to assess the feasibility of delivering a standardized genomic care model for inherited retinal dystrophy (IRD) and of using selected measures to quant...

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Veröffentlicht in:Genetics in medicine 2017-09, Vol.19 (9), p.1032-1039
Hauptverfasser: Davison, Niall, Payne, Katherine, Eden, Martin, McAllister, Marion, Roberts, Stephen A., Ingram, Stuart, Black, Graeme C.M., Hall, Georgina
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container_end_page 1039
container_issue 9
container_start_page 1032
container_title Genetics in medicine
container_volume 19
creator Davison, Niall
Payne, Katherine
Eden, Martin
McAllister, Marion
Roberts, Stephen A.
Ingram, Stuart
Black, Graeme C.M.
Hall, Georgina
description Purpose: Broadening access to genomic testing and counseling will be necessary to realize the benefits of personalized health care. This study aimed to assess the feasibility of delivering a standardized genomic care model for inherited retinal dystrophy (IRD) and of using selected measures to quantify its impact on patients. Methods: A pre-/post- prospective cohort study recruited 98 patients affected by IRD to receive standardized multidisciplinary care. A checklist was used to assess the fidelity of the care process. Three patient-reported outcome measures—the Genetic Counselling Outcome Scale (GCOS-24), the ICEpop CAPability measure for Adults (ICECAP-A), and the EuroQol 5-dimension questionnaire (EQ-5D)—and a resource-use questionnaire were administered to investigate rates of missingness, ceiling effects, and changes over time. Results: The care model was delivered consistently. Higher rates of missingness were found for the genetic-specific measure (GCOS-24). Considerable ceiling effects were observed for the generic measure (EQ-5D). The ICECAP-A yielded less missing data without significant ceiling effects. It was feasible to use telephone interviews for follow-up data collection. Conclusion: The study highlighted challenges and solutions associated with efforts to standardize genomic care for IRD. The study identified appropriate methods for a future definitive study to assess the clinical effectiveness and cost-effectiveness of the care model. Genet Med advance online publication 02 March 2017
doi_str_mv 10.1038/gim.2017.9
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subjects 692/699/3161/3175
692/700/228/2050/1512
Algorithms
Biomedical and Life Sciences
Biomedicine
Cohort Studies
Delivery of Health Care - methods
Delivery of Health Care - standards
Disease Management
Female
Genetic Counseling
Genetic Testing - methods
Genetic Testing - standards
Genomics - methods
Health risk assessment
Human Genetics
Humans
Laboratory Medicine
Male
Models, Theoretical
Ophthalmology - methods
Ophthalmology - standards
original-research-article
Patient Acceptance of Health Care
Patient Reported Outcome Measures
Retinal Dystrophies - diagnosis
Retinal Dystrophies - genetics
Standard of Care
title Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example
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