Attitudes regarding predictive testing for retinitis pigmentosa.
OBJECTIVE
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.
Mezer
Eedy
E
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
Babul-Hirji
Riyana
R
Wise
Richard
R
Chipman
Mary
M
DaSilva
Lisa
L
Rowell
Mary
M
Thackray
Robin
R
Shuman
Cheryl T
CT
Levin
Alex V
AV
D000328:Adult; D001294:Attitude to Health; D005190:Family; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease / Q000235:genetics / Q000523:psychology*; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans; D008297:Male; D011446:Prospective Studies; D012174:Retinitis Pigmentosa / Q000235:genetics*; D011795:Surveys and Questionnaires