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Parents' experiences of receiving their child's genetic diagnosis: A qualitative study to inform clinical genetics practice
Author(s) -
Ashtiani Setareh,
Makela Nancy,
Carrion Prescilla,
Austin Jehannine
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36525
Subject(s) - feeling , thematic analysis , grounded theory , terminology , medical genetics , perception , preparedness , ambivalence , session (web analytics) , perspective (graphical) , psychology , genetic counseling , qualitative research , developmental psychology , medicine , clinical psychology , social psychology , genetics , social science , linguistics , philosophy , neuroscience , artificial intelligence , sociology , political science , computer science , law , gene , biology , world wide web
Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis. We conducted semi‐structured in‐person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child's genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis. Transcribed interviews were coded and sorted, and thematic categories identified. Sixty‐one and a half percent of parents experienced the diagnosis session as negative, 23% felt the experience was positive, and 15.5% were ambivalent. Receiving emotional support, an outline of the follow‐up plans, and messages of hope and perspective during the session seemed to positively influence parents' experience, while feeling that their role was as a passive receiver of information and the use of difficult medical terminology negatively influenced parents' overall experience. Parental preparedness for the information, and the parents' emotional reaction to the diagnosis were also factors that influenced the parental experience. Few participants understood the role of the genetic counselor. Our results provide in‐depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session. © 2014 Wiley Periodicals, Inc.