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Preferences for results from genomic microarrays: comparing parents and health care providers
Author(s) -
Turbitt E.,
Halliday J.L.,
Amor D.J.,
Metcalfe S.A.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12398
Subject(s) - respondent , health care , medicine , genetic testing , health professionals , genomic information , exome sequencing , family medicine , psychology , genome , genetics , biology , mutation , political science , law , economics , gene , economic growth
Chromosomal microarray ( CMA ) testing is now performed frequently in paediatric care. Although CMAs improve diagnostic yields, they increase detection of variants of unknown and uncertain clinical significance ( VUS ). Understanding parents', paediatricians' and genetic health professionals' ( GHPs ) views regarding variant disclosure may reduce the potential for communication of unwanted information. A questionnaire was designed to compare disclosure preferences of these three groups in Australia. One hundred and forty‐seven parents, 159 paediatricians and 69 GHPs hold similar views with at least 89% of respondents certainly or probably favouring disclosure of all categories of variants. However, some differences were observed between health care providers ( HCPs : paediatricians and GHPs ) and parents, who were less sure of their disclosure preferences. There was consensus among respondent groups that knowledge of a variant of certain clinical significance would provide more practical and emotional utility compared to VUS . Compared to HCPs , parents placed more emphasis on using knowledge of a VUS when considering future pregnancies (p < 0.001). This study may help HCPs anticipate parents' preferences for genomic testing. As whole exome/genome sequencing is integrated into clinical practice, the potential for differing views of parents and HCPs should be considered when developing guidelines for result disclosure.