Abstract
Exome sequencing (ES) is an effective method for identifying the genetic cause of hearing loss in infants diagnosed through newborn hearing screening programs. ES has the potential to be integrated into routine clinical care, yet little is known about the experiences of clinicians offering this test to families. To address this gap, clinicians involved in a clinical study using ES to identify the cause of infants’ hearing loss were interviewed to explore their experiences with offering and returning results to parents. Interview transcripts were analysed using inductive content analysis. Twelve clinicians participated: seven genetic counsellors, four clinical geneticists, and one paediatrician. Most clinicians were supportive of offering ES to infants with hearing loss, primarily because results may inform the child’s clinical management. However, some expressed concerns, questioning the utility of this information, particularly for isolated hearing loss. Clinicians had differing views regarding the optimal time to offer ES to families; while some felt that families can manage everything at once, others recommended delaying testing until parents have come to terms with their child’s diagnosis. These findings show the complexity involved in determining how ES should be offered to families following the diagnosis of a child with hearing loss, particularly with regards to when testing is suggested.
Highlights
0.1% of Australians are born with unilateral or bilateral hearing loss [1]
A clinical study, known as the Melbourne Genomics Congenital Deafness Project, offered exome sequencing to infants with hearing loss who were born from January 2016 to December 2017 in Victoria, Australia
Clinicians varied in terms of how many years they had worked in their current profession; experience ranged between trainee level (n = 1) and >20 years (n = 1) with the majority of participants having from 1–4 years (n = 4) or 5–9 years (n = 3) experience
Summary
0.1% of Australians are born with unilateral or bilateral hearing loss [1]. Research shows that exome sequencing (where the coding regions of a person’s DNA are sequenced) can be used to identify the genetic cause of hearing loss, with a higher diagnostic yield than standard single gene testing [2]. A clinical study, known as the Melbourne Genomics Congenital Deafness Project, offered exome sequencing to infants with hearing loss who were born from January 2016 to December 2017 in Victoria, Australia. Temporary, or mild hearing loss were excluded [1] These criteria were selected based on the likely yield for identifying the genetic basis of the hearing loss, which was deemed much lower in unilateral and mild cases. Together, testing identified a genetic cause of hearing loss in 56% (59/106) of the infants who participated in the study, leaving 44% for whom a causative variant was not identified [2]. Results were returned to parents by genetic health professionals as per the clinical setting
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