title: Identifying variation in models of care for the genomic-based diagnosis of inherited retinal dystrophies in the United Kingdom.
abstract: PurposeAdvances in genomic technologies are prompting a realignment of diagnostic and management pathways for rare inherited disease. New models of care are being developed as genomic-based diagnostic testing becomes increasingly relevant within more and more aspects of medicine. This study describes current care models for the provision of a genomic-based diagnosis for patients with inherited retinal dystrophy (IRD) in UK clinical practice.MethodsA structured telephone survey, conducted (in 2014) with all 23 UK Regional Genetics Centres and a sample of specialist ophthalmology centres (n=4), was used to describe models of service delivery and current levels of genomic-based diagnostic testing. Quantitative data were summarised using descriptive statistics. Responses to open-ended questions were summarised using thematic analysis.ResultsOf the 27 centres 10 of them saw IRD patients in 'generic' clinics and 17 centres offered ophthalmic-specific clinics. Extensive regional variation was observed in numbers of patients seen and in how care for the diagnosis and management of IRD was provided.ConclusionsUnderstanding current practice is a necessary first step in the development and evaluation of complex interventions, such as care models for the genomic-based diagnosis of inherited eye conditions. Presented findings here relating to disparities in care provision are potentially linked to previously reported evidence of perceived unmet needs and expectations of IRD service users. This work provides a foundation for the integration of new care models in mainstream medicine.
authors.affiliation: Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
authors.forename: M
authors.initials: M
authors.lastname: Eden
authors.affiliation: Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
authors.forename: K
authors.initials: K
authors.lastname: Payne
authors.affiliation: Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
authors.forename: C
authors.initials: C
authors.lastname: Jones
authors.affiliation: Manchester Centre for Health Economics, The University of Manchester, Manchester, UK.
authors.forename: S J
authors.initials: SJ
authors.lastname: Wright
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, UK.|Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Oxford Road, Manchester, UK.
authors.forename: G
authors.initials: G
authors.lastname: Hall
authors.affiliation: Centre for Medical Education, School of Medicine, Cardiff University, Cardiff, UK.
authors.forename: M
authors.initials: M
authors.lastname: McAllister
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, UK.|Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Oxford Road, Manchester, UK.
authors.forename: G
authors.initials: G
authors.lastname: Black
mesh_terms: D003695:Delivery of Health Care; D019468:Disease Management; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D033142:Genetic Services / Q000706:statistics & numerical data*; D005820:Genetic Testing; D023281:Genomics; D006297:Health Services Accessibility; D006801:Humans; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D011795:Surveys and Questionnaires; D006113:United Kingdom