title: Patient expectations and attitudes towards specialist genetic eye services.
abstract: Little research has explored the views of patients referred to specialist genetic eye clinics. Future service development must be informed by the perspectives of patients to ensure services are accessible and meet their needs. Semi-structured telephone interviews were undertaken with patients referred to the Genetic Eye Clinic in Manchester, UK. Participants were interviewed before their first appointment. The interview transcripts were analysed using Interpretative Phenomenological Analysis (IPA). Nine interviews took place. Five participants were adults with sight loss and 4 were the parent/carer of a child patient. The major themes identified were: expectations of a medical-genetic focus to the clinic, psychological adjustment to the diagnosis of an eye condition impacting on counselling and support needs, lack of preparation and restricted expectations due to unfamiliarity with the service and positive attitudes towards genetic research and testing. Key motivating factors for patients attending specialist ophthalmic genetic services are medical-genetic orientated, including accurate diagnostic and prognostic information, participation in research and clarification of recurrence risks. Some barriers to patients accessing and fully engaging with services were identified. There is a need to raise awareness of the specialist service amongst the public, patient organisations and professionals. Facilitating patient preparation for clinic could improve patient outcomes, and the need for integrated services is reinforced. The results feed into the development of a best practice model for the delivery of specialist ophthalmic genetic services.
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre, Manchester, UK, ekmc2014@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Clarke
authors.forename: R
authors.initials: R
authors.lastname: Combs
authors.forename: G
authors.initials: G
authors.lastname: Black
authors.forename: G
authors.initials: G
authors.lastname: Hall
mesh_terms: D000328:Adult; D001290:Attitude; D017028:Caregivers / Q000523:psychology; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D010290:Parents / Q000523:psychology; D010361:Patients / Q000523:psychology*; D006113:United Kingdom; D055815:Young Adult