The paper
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.
What was this research about?
Nearly one-tenth of Australian children are born with conditions that impact their cognitive and behavioural development. Thanks to rapid advances in screening technologies, children are increasingly being tested for these “neurodevelopmental” conditions, including Down syndrome, as well as Fragile X syndrome, DiGeorge syndrome and Angelman syndrome.
When parents receive a diagnosis, it is usually accompanied by a conversation about their child’s future. At present, doctors can only make generalised predictions; however, tests are currently being developed for some conditions that could provide parents with a prognosis more precisely tailored to their own child.
Prognostic testing could better equip clinicians with more accurate information to share with parents about their child’s future health needs and capabilities. What has not been well researched, though, is when, how and even whether the parents of children with a neurodevelopmental condition want to be given such information. This paper aimed to shed light on their experiences, and to find out if they would welcome the more accurate prognosis that new tests could deliver.
The researchers interviewed 32 parents, then thematically analysed and interpreted the results.
What did the paper show?
While some parents craved greater certainty about their child’s future, others preferred the future to remain less clearly defined.
Most parents interviewed believed parents should not be offered prognostic information until they had been given a chance to digest the initial diagnosis. They also felt strongly that such information should be balanced and – as far as possible – positively framed, highlighting a child’s potential strengths and abilities along with the challenges they faced.
Some parents said that insights about their child’s prospects would help them to cope emotionally, and also enable them to plan how best to meet their child’s needs. Others suggested if they were given a favourable prognosis, this would bring them peace of mind.
Lastly, parents expressed concern about the societal harms that could result from prognostic testing, such as the stigmatisation of children and a reinforcement of “ableism”.
What is the significance of these findings?
As genetic testing for neurodevelopmental conditions becomes increasingly common, more and more doctors are giving diagnoses to parents and talking to them about their children’s future.
For parents, this can be an emotional, overwhelming and even traumatic experience. It’s crucial, therefore, that paediatricians understand the perspectives of parents – and especially the importance they attach to conversations that emphasise children’s potential strengths and abilities. This positive approach will be even more key once individualised prognostic tests become available.
This paper has added to the evidence on attitudes to prognosis. While existing knowledge, from research in cancer treatment and neonatal intensive care suggests people want certainty, the picture is more nuanced for children with diagnosed genetic neurodevelopmental conditions.
What happens next?
Further research could help to guide the process of offering prognostic testing to parents. It could also explore community views in order to better understand what people perceive to be the risks and benefits of parents receiving more precise information.
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