ABSTRACT
BACKGROUND: Patients who suffer from ocular genetic diseases have special needs in terms of diagnosis and management of rare entities, low-vision needs, genetic counselling, and psychosocial adjustments that are usually not addressed by an ophthalmologist alone. The Ocular Genetics Program (OGP) at the Hospital for Sick Children, Toronto, was established in 1994 to provide comprehensive, multidisciplinary care of patients with inherited eye disorders. We now assess the benefits of such a program and of integrating research into the care of patients. METHODS: We report our experience in developing a multidisciplinary ocular genetics program and the results of a pilot patient satisfaction survey that involved 61 patients. RESULTS: The OGP multidisciplinary aspects are described. Of the 61 patients surveyed, 98% stated that they were satisfied with the OGP; 93%-96% of patients were content with "one day of appointments", "understanding of eye problem", and "coordination of ancillary tests such as visual fields test, electrophysiology, and others"; and for 70%-86% of respondents "waiting time to get an appointment", "information received on current research", and "primary health care provider adequately informed" were satisfactory. INTERPRETATION: The OGP is a unique service in Canada, which strives to provide the comprehensive care needed by ocular genetic patients. High patient satisfaction is an indicator of the success of this approach. Long waiting times for appointments and application of laboratory research in clinical care remain challenging.
Subject(s)
Eye Diseases, Hereditary/genetics , Genetic Counseling/methods , Ophthalmology/methods , Primary Health Care/methods , Program Evaluation/trends , Adolescent , Child , Humans , Ontario , Patient Satisfaction , Pilot Projects , Referral and Consultation , Surveys and QuestionnairesABSTRACT
PURPOSE: To assess attitudes towards predictive testing for autosomal dominant retinitis pigmentosa (ADRP). METHODS: A prospective questionnaire study of 46 affected adults and their adult family members identified from pedigrees clearly consistent with ADRP or who had had DNA-testing confirmation of ADRP before the study commenced. RESULTS: High proportions of unaffected siblings (73%) and patients (67%) agreed to prenatal testing. Patients agreed to prenatal testing. Patients agreed significantly more often than unaffected siblings that treatment should be available prior to initiating predictive testing. Psychoemotional distress was reported in 57% of the affected adults and their family members in recollecting their own predictive testing as children. CONCLUSIONS: ADRP families indicate a favorable attitude towards testing presymptomatic children with counseling to lessen the psychological and social impact of results.
