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, David Amor and Lilian Downie.
Genomic testing involves reading through many genes in a person’s DNA at the same time. This means that if we are testing to try to find the cause of a person’s genetic condition, we can also look at genes that might relate to other health-related genes.
These other health-related genes are often called “secondary findings” because they are not related to the primary reason for doing the testing – that is, to find the cause of the person’s condition. Secondary findings might relate to conditions that begin in childhood (for example, Duchenne muscular dystrophy) or in adulthood (Long QT Syndrome). They might tell us about conditions that are treatable or preventable (hereditary breast and ovarian cancer), or ones that aren’t (familial Alzheimer disease). Often the person having the testing doesn’t have any signs or symptoms of the condition at the time of testing; the secondary finding tells us about their chance of developing the condition in the future.
Having this information can be helpful in a few ways. If it is a condition with the possibility of treatment or surveillance, early detection of symptoms can be lifesaving. If these options are not available, the information may still help people plan for their future.
The Melbourne Genomics Congenital Deafness Project offered genomic testing to babies born in Victoria between January 2016 and December 2017 who, through the newborn screening hearing program, were identified as having moderate-to-profound hearing loss affecting both ears. Families that decided to go ahead with the testing were offered the choice between options A, B, and C – the same choices offered to Ava’s parents.
We were interested to find out the reasons parents might, or might not, decide to have additional testing done to find out the chances of their child developing another genetic condition.
Of the 106 babies with hearing loss that had genomic testing, about one-third (32.1%) of parents chose to receive only the hearing loss results (option A). This was mostly because they either didn’t want to know about conditions that might develop in the future, or because they were feeling overwhelmed by the diagnosis of deafness, and appointments required at that point in time.
Of the 72 parents who chose to receive secondary findings, most (59.7%) opted for option C, which included both treatable and non-treatable conditions. These parents felt that “the more information the better” and preferred to be informed, even if there was nothing that could be done about it. The remainder of parents only wanted to receive results that they could do something about, but thought it would be helpful to know because it would reduce the time it took to get a diagnosis.
Regardless of which option they chose, most parents appreciated being offered the choice of receiving secondary findings. However, some parents and health professionals questioned the timing in offering the test for secondary findings. This was particularly the case for first time parents because they found dealing with a newborn as well as the hearing loss challenging.
Some of the health professionals expressed concern that by offering the option to receive secondary findings, parents may feel obliged to accept the offer, even if they thought this was not in their child’s best interests. The parents interviewed did not raise this as an issue. But due to the small sample size further research is needed to explore this question.
Only a very small number of families in the study received secondary findings, so it is difficult to comment on the impact this information had for them. However, those that received results informing them their child was not at risk of developing any of the conditions tested, expressed relief at this knowledge.
In summary, most parents appreciated being able to choose whether or not to receive secondary findings. However, our research highlighted a need to check in with families about whether it’s the right time to offer testing, and whether delaying the offer might be more appropriate for new parents.
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?.
Offering and Returning Secondary Findings in the Context of Exome Sequencing for Hearing Loss: Clinicians’ Views and Experiences. Lauren Notini, Clara Gaff, Julian Savulescu & Danya F Vears. AJOB Empirical Bioethics. 2023 Jan. DOI: 10.1080/23294515.2022.2160507.