Discussing genetic diagnoses with parents can be tricky

Discussing genetic diagnoses with parents can be tricky | Image credit: Contemporary Pediatrics

To determine parents’ preferences and motivations for receiving and discussing prognostic genetic test results, Australian investigators conducted semistructured interviews with parents of children with neurodevelopmental conditions that are chronic and not life-limiting. The interviews, which were conducted over Zoom or via telephone or email, were with 32 parents of children with fragile X syndrome, DiGeorge syndrome, or Angelman syndrome. More than half of the children (60%) were diagnosed before the age of 2 years and all before they were 10 years old.

Parents had a variety of preferences and motivations for acquiring prognostic genetic information about their child, but 4 major findings emerged from parental interviews, as follows:

• Some parents seek prognostic information to reduce uncertainty, while others prefer prognostic uncertainty. Overall, it is parents of children who are more mildly affected by their condition who are more tolerant of prognostic uncertainty compared with parents of more severely impacted children.
• Conversations and decisions about prognostic information are emotional for parents. Because of this, investigators noted, these parents need psychological support.
• Parents are enthusiastic about receiving prognostic information if what they learn will help them cope emotionally and in practical ways.
• Parents acknowledge that having precise prognostic information can result in possible societal harm, such as being stigmatized as disabled.

Investigators noted that their findings emphasize that uncertainty can evoke both negative and positive emotions. Practitioners need to keep this in mind and present prognostic information in a way that highlights the child’s potential strengths.

Thoughts From Dr Farber

Many providers routinely refrain from giving full information to parents; for example, they may say a child has autism but omit the associated intellectual disability. This, of course, is much easier on the provider and, according to this study, may sometimes be in the best interests of the parents. I still opt for maximal disclosure, without overwhelming or destroying hope, as the default mode.

Reference:

Turbitt E, Bourne M, McEwen A, Amor DJ. Parents’ preferences for receiving and discussing prognostic genetic information regarding their children’s neurodevelopmental condition: a qualitative study. Dev Med Child Neurol. 2024;66(7):872-881. doi:10.1111/dmcn.15830