Ms Kayla Nowrojee2, Associate Professor Sharon Lewis1,2, Associate Professor Valerie Sung1,2,3, Ms Libby Smith2, Ms Antonia Howard1, Ms Michelle Cao1,3,4, Dr Lilian Downie1,2,3
1Murdoch Childrens Research Institute, Parkville, Australia, 2Department of Paediatrics, The University of Melbourne, Parkville, Australia, 3The Royal Children's Hospital, Parkville, Australia, 4Victorian Clinical Genetics Service, Parkville, Australia
Biography:
Michelle Cao is a certified genetic counsellor at the Victorian Clinical Genetics Service. She previously worked in Tasmania before returning to Melbourne where she is now working in both a clinical and research capacity. She is working with A/Prof Valerie Sung's group on hearing loss-related research projects such as mainstreaming genetic testing in a paediatric hearing loss clinic and the Otoferlin natural history study which looks at genetic causes of auditory neuropathy. She has a special interest in issues relating to diversity, inclusion, cultural competency, and equity in the genetic counselling field.
Abstract
Genetic testing for deaf and hard of hearing (DHH) children can offer multiple benefits such as providing a diagnosis, directing management, informing recurrence risk for future pregnancies, and information for family planning. Genetic testing for childhood deafness will become more available with national funding in Australia. It is important to consider family preferences when offering genetic testing.
This study aimed to elicit parental preferences for genetic testing in their DHH children, including preferred timing of genetic testing and how information about genetic testing is provided. Additionally, we aimed to determine factors that influenced parental preferences.
The Victorian Childhood Hearing Longitudinal Databank (VicCHILD) is a statewide population-based prospective databank for childhood hearing loss. In 2023, 184 VicCHILD families responded to an online survey that explored family perspectives on genetic testing for childhood deafness. We performed descriptive statistical analysis, describing proportions for categorical variables. We used χ2 (chi-squared) analysis to explore factors associated with parental preferences.
Nearly 90% of parents surveyed believe that genetic testing should be routinely offered to find the cause of childhood hearing loss. Among these parents, ~60% prefer to be offered trio testing rather than testing the child first. Face-to-face consultations were the preferred method for counselling, consent discussion, and returning results. We did not find any participant characteristics that were associated with parental preferences. This research provides vital information to healthcare professionals and policymakers regarding how best to deliver genetic testing for DHH children. By aligning services with parental preferences, we can provide better family-centred care.