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Attitudes regarding predictive testing for retinitis pigmentosa
Eedy Mezer1, Riyana Babul-Hirji, Richard Wise
1Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
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.