Facing a rare disease diagnosis: Supporting parents of babies in intensive care.

News > Published on 01 February 2019 > By hilianty.tardjono

The anguish experienced by parents with a child in intensive care can be devastating, especially when a deteriorating condition demands rapid treatment but a clear diagnosis is elusive.

That emotional rollercoaster can be intensified when the possibility of a genetic condition is raised. In some cases, rapid genomic testing can be used to find answers quickly. This testing is complex and the results can be life-changing, however parents have only a short time to make decisions.

A new article published in the international Journal of Genetic Counseling discusses a key healthcare professional’s emerging role in the intensive care setting – that of the Genetic Counsellor.

Using illustrative case studies, this paper explores the sensitive issues that genetic counsellors encounter in their interactions with families and the medical teams treating babies in intensive care.

The paper, Genetic counselling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates, arises from experiences within a broader Australian Genomics study on Acute Care.

The authors are Samantha Ayres, Lyndon Gallacher and Gemma Brett, genetic counsellors, and Zornitza Stark, clinical geneticist, with the Victorian Genetic Clinical Services at the Murdoch Children’s Research Institute.

It highlights the challenges arising when providing complex testing in the emotionally charged environment of the Neonatal Intensive Care Unit and the critical role of genetic counsellors in supporting families through this process.

“It is fantastic to be able to provide answers in such a short timeframe, however it is important that families are adequately supported through this incredibly difficult time,” the authors say. “In this context, parents already have a baby who is critically unwell, and are then faced with the possibility of a genetic condition. This can raise new fears for the future.”

Genetic counsellors have a unique set of skills and knowledge, which allow them to communicate complex scientific information while providing emotional support. In doing so, genetic counsellors are well placed to assist families with some of the complex decision making in the intensive care setting.

The paper has been featured in the Sydney Morning Herald.