Affiliation:
1. Discipline of Genetic Counselling University of Technology Sydney Ultimo NSW Australia
2. Murdoch Children's Research Institute Parkville VIC Australia
3. Department of Paediatrics University of Melbourne Parkville VIC Australia
Abstract
AbstractAimTo investigate parents' preferences and motivations for receiving and discussing prognostic genetic test results.MethodWe used a cross‐sectional, interpretive description qualitative study design. We collected data through semi‐structured interviews with Australian parents, which we analysed using reflexive thematic analysis.ResultsParents (n = 32) had a child or children with a genetic neurodevelopmental condition, such as fragile X syndrome, DiGeorge (22q11.2 deletion) syndrome, or Angelman syndrome. Parents of mildly impacted or older children were tolerant to prognostic uncertainty. Parents found conversations about their child's prognosis emotional and preferred to discuss their child's potential strengths and challenges. While most were enthusiastic about prognostic tests and described many motivations for testing, the potential for prognostic information to contribute to a loss of hope and stigmatizing societal views were also discussed.InterpretationParents had mixed preferences and motivations for acquiring prognostic genetic information about their child, contrasting evidence in other contexts such as cancer where parents typically have minimal tolerance of uncertainty. Health professionals should consider strength‐based framing of prognostic information gained from current and emerging technologies when returning results to families.
Subject
Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health
Cited by
2 articles.
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