Article
A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.
Scientific reports - 4 Aug 2021
Saelaert Marlies, Mertes Heidi, Moerenhout Tania, Van Cauwenbergh Caroline, Leroy Bart P, Devisch Ignaas, De Baere Elfride
Abstract excerpt
Exome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients' interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge may impede effective counselling that meets patients' needs. Therefore, this article examines the meaning of UFs from a...
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