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

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Abstrakt

Tytuł:: Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.
Autorzy:: Davison N; Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
Payne K; Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
Eden M; Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
McAllister M; School of Medicine, Cardiff University, Cardiff, UK.
Roberts SA; Centre for Biostatistics, The University of Manchester, Manchester, UK.
Ingram S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Black GCM; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Hall G; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Źródło:: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Sep; Vol. 19 (9), pp. 1032-1039. Date of Electronic Publication: 2017 Mar 16.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: 2022- : [New York] : Elsevier
Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-
MeSH Terms:: Delivery of Health Care*/methods
Delivery of Health Care*/standards
Genomics*/methods
Ophthalmology*/methods
Ophthalmology*/standards
Standard of Care*
Algorithms ; Cohort Studies ; Disease Management ; Female ; Genetic Counseling ; Genetic Testing/methods ; Genetic Testing/standards ; Humans ; Male ; Models, Theoretical ; Patient Acceptance of Health Care ; Patient Reported Outcome Measures ; Retinal Dystrophies/diagnosis ; Retinal Dystrophies/genetics
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Entry Date(s):: Date Created: 20170317 Date Completed: 20180504 Latest Revision: 20220210
Update Code:: 20240105
DOI:: 10.1038/gim.2017.9
PMID:: 28301457
: Czasopismo naukowe

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.

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