What researchers found
Of the 106 families who agreed to have genomic testing in the study, 72 (68 per cent) consented to receive genomic analysis beyond the deafness genes.
Of those, 29 (27.4 per cent of all respondents) opted for Option B while 43 (40.6 per cent of all respondents) opted for Option C. A sizeable 32 per cent of families, however, opted only to analyse genes directed related to their child’s hearing impairment (Option A).
The results reiterated something researchers believe is of key importance if this type of testing is offered more broadly.
“The main finding was that one size doesn’t fit all. Two thirds of parents wanted additional information, but one third weren’t interested in it at that point in time. What stood out for us was that it’s important to take into account that people want different things,” says Dr Downie
She says the results may have been different if the testing was done at a different time in a child’s life.
“Having a new baby is a significant time, so parents might change their mind if it was offered later, and they were offered more information or additional genetic counselling,” Dr Downie says.
Researchers also discovered that, regardless of which option parents chose, participants mostly demonstrated low levels of anxiety and feelings of conflict or regret around the decision to have genomic screening – the first quantitative data on psychosocial impacts that has been published to date.
By analysing both the ‘yes’ and the ‘no’ groups, researchers could see that three issues played a role in parents’ decision making.
“Family size had a little bit of an impact – if it was their second child they were more interested in wanting the additional information,” says Dr Downie.
Families identifying as Australian were also more likely to want to have the testing done than those from other cultures. Thirdly, parents with very young newborns (under three months) were less inclined to want the extra information.
“It will be interesting to explore all these factors in interviews…It may be that people need a period of time with their babes before considering that type of testing,” Dr Downie says.
Professor Amor agrees that if the testing was applied to the general population, best practice may require it to be conducted separately to the existing newborn screening tests parents are already used to.
“We have greater than 99 per cent uptake within the community on the current newborn screenings. For the vast majority of babies that are born, their parents are very happy – in fact, enthused – for screening to occur,” Professor Amor says.
Considering the ethics of genomic testing
As clinical geneticists and paediatricians, both researchers were well versed in the ethical issues that come with the rapidly advancing technologies used in genomic testing.
“We are very interested in how that technology is applied in a clinical setting to generate the best health benefits for the community while at the same time, minimising potential negative outcomes,” Professor Amor.
While none of the families in this study were dealt devastating news as a result of the testing, that would change if the tests were done on a population level.
“It would really require genetic counsellors or people who were well trained about the technology we are using to have an information session with parents, which takes quite a long time,” says Dr Downie.
While rolling out this type of testing at scale isn’t an option today, that may change quickly.
“At the moment, we mostly deal with this kind of technology with patients who come through the door having a suspected genetic diagnosis. We are not applying this type of testing to healthy people, whether adults or children. But there’s a general view that we will see more of this in the next decade,” Professor Amor says.