The ethical issues surrounding genomic testing are often complex and varied. A Question of Ethics is a four-part blog series by Australian Genomics, in collaboration with the Biomedical Ethics Research Group at the Murdoch Children’s Research Institute. It explores ethical situations a family might encounter when considering genomic testing for their child.
By Danya Vears.
Approximately 0.1% of Australians are born with hearing loss in either one or both ears. Some of the time their hearing loss will be genetic. In these cases, the hearing loss is usually isolated (where hearing loss is the only symptom), but in about 20-30% of cases it will be syndromic, where other symptoms are present or may develop either in childhood or adulthood.
For children with hearing loss, doing genomic testing can help figure out which type of hearing loss they have (for example, syndromic or isolated), which tells us what kind of other testing or follow up they might need.
A Melbourne Genomics study of 106 babies with moderate-to-profound hearing loss in both ears, found 56% of those cases had a genetic cause.
At the Biomedical Ethics Research Group at the Murdoch Children’s Research Institute we wanted to find out why parents might or might not decide to have genomic testing done to find the cause of their child’s hearing loss.
Interviews with health professionals and parents revealed some interesting outcomes. Health professionals identified several potential benefits of offering genomic testing to families, such as when it can change the way their child is managed, and how parents can find it empowering to have this knowledge about their child. But some health professionals questioned how useful the testing was, because having an answer did not usually lead to different treatments.
Health professionals also wondered about the best time to offer genomic testing to families. As with Archie’s parents, the time straight after receiving the hearing loss diagnosis can be pretty stressful and the health professionals wondered whether it might be better to delay the genomic testing until things settled down.
Health professionals and parents gave similar reasons for wanting testing for their child. Commonly, parents wanted an explanation for why their child had hearing loss, in some cases wanting to relieve their concerns or feelings of guilt that they had done something wrong to cause it. Some were keen to know whether it was isolated or syndromic, or wanted to know more about their child’s health in a more general sense. Some parents were also interested to know their child’s results to help them plan for future pregnancies.
On the other hand, some parents were not interested in genomic testing for their child. According to the health professionals, the main reasons for this were that it wouldn’t change the way their child was managed and that they were feeling overwhelmed by the diagnosis and appointments required at that point in time.
For the parents that did go ahead with testing, their experiences with receiving results were generally positive, with many describing a sense of relief. Some were relieved that the hearing loss was not syndromic, and others were glad to know the hearing loss was syndromic so they could be proactive about their child’s health. Although this relief was experienced by parents both where a genetic cause was and was not found, for the latter, feelings were more mixed. In addition, some parents were not pleased to receive a genetic cause because it confirmed the diagnosis, where otherwise they might have retained hope that the hearing loss diagnosis was wrong.
In summary, the offer of genomic testing in babies diagnosed with hearing loss was generally appreciated by parents and most found it helpful to know the cause. But obviously not all parents wanted the testing, in some cases because there was too much to deal with at that time. If this testing is offered more widely, we need to figure out the best time to offer it and whether that needs to be flexible according to the family situation.
Part one of A Question of Ethics blog, Should parents be allowed to decline genomic testing for their children?.
Part two of A Question of Ethics blog, Big data in genomics: to share or not to share?.
Part three of A Question of Ethics blog, Offering secondary findings from genomic testing in paediatric settings.
Clinicians’ Views and Experiences with Offering and Returning Results from Exome Sequencing to Parents of Infants with Hearing Loss. Lauren Notini, Clara L Gaff, Julian Savulescu & Danya F Vears. Journal of Clinical Medicine. Dec 2021. DOI: 10.3390/jcm11010035.