title: Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
authors.forename: Niall
authors.identifier: 0000-0002-9447-0825
authors.initials: N
authors.lastname: Davison
authors.affiliation: Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
authors.forename: Katherine
authors.identifier: 0000-0002-3938-4350
authors.initials: K
authors.lastname: Payne
authors.affiliation: Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
authors.forename: Martin
authors.identifier: 0000-0002-1542-2527
authors.initials: M
authors.lastname: Eden
authors.affiliation: School of Medicine, Cardiff University, Cardiff, UK.
authors.forename: Marion
authors.identifier: 0000-0001-7188-9255
authors.initials: M
authors.lastname: McAllister
authors.affiliation: Centre for Biostatistics, The University of Manchester, Manchester, UK.
authors.forename: Stephen A
authors.identifier: 0000-0002-7477-7731
authors.initials: SA
authors.lastname: Roberts
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
authors.forename: Stuart
authors.identifier: 0000-0002-5877-1268
authors.initials: S
authors.lastname: Ingram
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
authors.forename: Graeme C M
authors.initials: GCM
authors.lastname: Black
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
authors.forename: Georgina
authors.initials: G
authors.lastname: Hall
mesh_terms: D000465:Algorithms; D015331:Cohort Studies; D003695:Delivery of Health Care / Q000379:methods / Q000592:standards; D019468:Disease Management; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D023281:Genomics / Q000379:methods; D006801:Humans; D008297:Male; D008962:Models, Theoretical; D009885:Ophthalmology / Q000379:methods / Q000592:standards; D010342:Patient Acceptance of Health Care; D000071066:Patient Reported Outcome Measures; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics; D059039:Standard of Care