title: Understanding the expectations of patients with inherited retinal dystrophies.
abstract: BACKGROUND
  UK genetic ophthalmology services for patients with retinal dystrophy (RD) are variable. Little research exists to define service requirements, or expectations, of patients and their families. This study aimed to explore the views and perceived benefits of genetic ophthalmology services among members of families with RD.
  
  
  METHODS
  Twenty participants with known RD mutations were recruited through UK genetic ophthalmic clinics. Semistructured qualitative interviews explored interviewees' perceptions of the role of these services. Interviews were transcribed verbatim and analysed using inductive thematic analysis.
  
  
  RESULTS
  Interviewees' expectations and requirements of genetic ophthalmology services were wide-ranging and often perceived to be unmet. Participant expectations were classified in three groups: (1) Medical expectations included obtaining a diagnosis and information about disease/prognosis, genetic risks and research (2) Psychosocial expectations related to participants' need for support in adjusting to RD (3) Practical expectations included the desire for information about welfare and support.
  
  
  CONCLUSIONS
  Expectations of RD families for clinical services are complex, encompassing a range of healthcare specialties. Services that align to these expectations will need to reach beyond the diagnostic arena and provide practical and psychosocial support. The identification of measurable outcomes will facilitate future development and evaluation of service delivery models. Many of the expectations identified here map to an existing, previously validated, outcomes framework for clinical genetic services. However, an additional outcome domain, labelled 'Independence' was also identified; this could either be specific to vision loss or relate generally to disability caused by genetic conditions.
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK.
authors.forename: Ryan
authors.initials: R
authors.lastname: Combs
authors.forename: Georgina
authors.initials: G
authors.lastname: Hall
authors.forename: Katherine
authors.initials: K
authors.lastname: Payne
authors.forename: Jo
authors.initials: J
authors.lastname: Lowndes
authors.forename: Sophie
authors.initials: S
authors.lastname: Devery
authors.forename: Susan M
authors.initials: SM
authors.lastname: Downes
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.forename: Simon
authors.initials: S
authors.lastname: Ramsden
authors.forename: Graeme C M
authors.initials: GC
authors.lastname: Black
authors.forename: Marion
authors.initials: M
authors.lastname: McAllister
mesh_terms: D005260:Female; D033142:Genetic Services / Q000706:statistics & numerical data*; D005820:Genetic Testing; D006302:Health Services Research; D006801:Humans; D008297:Male; D009885:Ophthalmology / Q000458:organization & administration; D057240:Patient Preference / Q000523:psychology*; D017060:Patient Satisfaction; D011787:Quality of Health Care; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011795:Surveys and Questionnaires
keywords: Dystrophy; Genetics; Retina; Treatment other