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Journal Article

Short Communication: Lived experience perspectives on genetic testing for a rare eye disease

Mallorie T. Tam; Alonso Daboub; Hayami Lou; Julie M. Robillard
Journal of Community Genetics · Vol. 15, Issue 1 · pp. 97-101 · 2023

Abstract

This qualitative study explored the motivators and barriers for genetic testing for individuals with aniridia. Semi-structured interviews were conducted with 8 participants. The main findings highlighted the complex and interrelated factors involved in the decision-making process, including family planning, learning about the specific pathogenic variant of the disease and having access to genetic testing. Benefits and potential risks of genetic testing for aniridia were also discussed. For participants, gaining knowledge about their condition was perceived as a benefit, while administrative issues and concerns around privacy were identified as risks. Increased access to quality information about genetic testing and to the service and associated resources are needed to better support people living with aniridia.

Bibliographic Information

JournalJournal of Community Genetics
PublisherSpringer
Publication Date2023-10-03
Publication Year2023
Volume15
Issue1
Pages97-101
Document TypeJournal Article
eISSN1868-6001
DOI10.1007/s12687-023-00677-5

Access Information

NARA Access Coverage2010-01-01~Current
Journal Homepagehttps://www.springer.com/journal/12687
Publisher PageOpen Publisher Page
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