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Real-world perspective on newborn genomic screening offered in Australian-first study

A Melbourne Genomics study published today in Genetics in Medicine has found that more than two-thirds (68 per cent) of parents who consented to genomic testing for hearing loss genes for their infant also accepted the offer of additional screening of the genome for a range of child-onset conditions.

The study, Baby Beyond Hearing, is the first of its kind to use a population-based cohort: offering genomic testing to all children with moderate to severe hearing impairment born in Victoria between January 2016 and December 2017.

Lead authors Dr Lilian Downie and Professor David Amor (Murdoch Children’s Research Institute) sought to investigate the real-world (not hypothetical) choices parents will make when offered newborn genomic screening, as well as the psychological impact of these choices. The study was a multidisciplinary collaboration between experts from Murdoch Children’s Research Institute, The Royal Children’s Hospital and Monash Health – under the auspices of Melbourne Genomics Health Alliance.

“There is a gap in the knowledge around what parents with newborns want out of genomic testing and what impact genomic newborn screening could have when it is offered as a test rather than as a hypothetical concept,” the authors note. “Our findings highlight that people seek different levels of information… according to their personal values and circumstances.”

When parents consented to genomic testing for their child’s hearing impairment, they were offered three choices in how their child’s genome could be analysed:

Choice A) only the genes relevant to deafness

Choice B) choice A genes plus genes associated with childhood-onset conditions for which there is a known treatment or intervention

Choice C) choice A and choice B genes, plus genes associated with childhood-onset conditions which may not have a clear treatment/intervention for improvement

Of the 106 families who agreed to have genomic testing, 72 (68 per cent) consented to receive genomic analysis beyond the deafness genes, with 29 (27.4 per cent) opting for choice B and 43 opting for choice C (40.6 per cent). A sizeable 32 per cent of families, however, opted only to analyse genes directed related to their child’s hearing impairment (choice A).

Whatever choice was selected, parents in the study generally demonstrated low levels of anxiety and feelings of conflict or regret around the decision to have genomic screening – the first such quantitative data on psychosocial impacts yet published. The study also provides the first perspective on a diverse, real-world population-based cohort of families, with results showing that factors such as cultural background and number of children in the family impacted the level of genomic analysis chosen.

Children in the study were aged between four weeks and one year. They were among more than 3,800 adult and paediatric patients who received genomic testing through Melbourne Genomics’ current program (2016-2020).