Baby beyond hearing, Using genomics as a newborn screening tool.

Genomics has the potential to be a powerful newborn screening tool, this is being investigated internationally. Genomic tests are increasingly available in Australia and additional findings can be analyzed and inform future health. This study aimed to explore parents' interest in receiving additional findings from genomic testing and determine factors influencing decision-making about the scope of results desired. Families that consented for exome sequencing to investigate deafness in their child were eligible. They were provided with a decision aid and a genetic counseling session. Participants could choose (A) no additional results; (B) additional results for childhood onset genetic conditions with a known treatment; or (C) additional results for childhood onset conditions with or without a known treatment. All families completed surveys about their decision-making at recruitment and after return of results. One hundred and six families participated, of which 72 (68%) chose to receive additional findings: 29 (27%) opted for choice B and 43 (41%) opted for choice C. Decisional conflict and anxiety levels were lower in those who chose to receive additional findings but similar between groups B and C. Intolerance of uncertainty was highest in the choice A group. Eighty percent of participants used the decision aid and 74% made a decision before their appointment however 23% consented to a different option post genetic counseling. Four participants had additional results returned, of which two required further management. This study highlights the interest in additional findings from genomic sequencing and emphasizes the importance of choice as families desire different levels of information.