title: Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease.
abstract: Advances in sequencing technology and the movement of genetic testing into all areas of medicine will increase opportunities for molecular confirmation of a clinical diagnosis. For health-care professionals without formal genetics training, there is a need to know what patients understand about genetics and genetic testing and their information needs and preferences for the disclosure of genetic testing results. These topics were explored during face-to-face interviews with 50 adults with inherited retinal disease, selected in order to provide a diversity of opinions. Participants had variable understanding of genetics and genetic testing, including basic concepts such as inheritance patterns and the risk to dependents, and many did not understand the term 'genetic counselling'. Most were keen for extra information on the risk to others, the process for genetic testing and how to share the information with other family members. Participants were divided as to whether genetic testing should be offered at the time of the initial diagnosis or later. Many would prefer the results to be given by face-to-face consultation, supplemented by further information in a format accessible to those with visual impairment. Health-care professionals and either leaflets or websites of trusted agencies were the preferred sources of information. Permission should be sought for disclosure of genetic information to other family members. The information needs of many patients with inherited retinal disease appear to be unmet. An understanding of their information needs and preferences is required to help health-care professionals provide optimal services that meet patient expectations.
authors.affiliation: Eye Clinic, Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.
authors.forename: Martin
authors.initials: M
authors.lastname: McKibbin
authors.affiliation: Yorkshire Regional Genetics, Chapel Allerton Hospital, Leeds, UK.
authors.forename: Mushtaq
authors.initials: M
authors.lastname: Ahmed
authors.affiliation: Leeds Institute of Health Sciences, University of Leeds, Leeds, UK.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Allsop
authors.affiliation: Hull and East Yorkshire Eye Hospital, Hull, UK.
authors.forename: Louise
authors.initials: L
authors.lastname: Downey
authors.affiliation: Eye Clinic, The York Hospital, York, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Gale
authors.affiliation: Leeds Institute of Health Sciences, University of Leeds, Leeds, UK.
authors.forename: Hilary Louise
authors.initials: HL
authors.lastname: Grant
authors.affiliation: Leeds Institute of Health Sciences, University of Leeds, Leeds, UK.
authors.forename: Barbara
authors.initials: B
authors.lastname: Potrata
authors.affiliation: Leeds Institute of Health Sciences, University of Leeds, Leeds, UK.
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Willis
authors.affiliation: Leeds Institute of Health Sciences, University of Leeds, Leeds, UK.
authors.forename: Jenny
authors.initials: J
authors.lastname: Hewison
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D006801:Humans; D008297:Male; D010353:Patient Education as Topic; D012164:Retinal Diseases / Q000151:congenital* / Q000523:psychology