Huge advances in genetics mean prenatal testing for conditions such as Down syndrome can now be done faster and with much less risk. A relatively new technology, non-invasive prenatal testing (NIPT), allows parents to have genetic testing with no danger of miscarriage by testing foetal DNA circulating in the mother’s blood.
However, while the technology is improving, the ethical dilemmas it raises are complex – and parents can be left to make extremely difficult choices. That is where genetic counsellors like Jonathan Roberts come in. His role is to help parents understand the testing and navigate the decision-making process.
Roberts works clinically as an NHS Genetic Counsellor at Addenbrooke’s Hospital in the UK, where NIPT is freely available under the healthcare system. In addition, he is a researcher in the Society and Ethics Research Group at the Wellcome Sanger Institute.
Photo: AFP
Listen to the full interview with Jonathan Roberts
He tells Kim Hill that one of the major advantages of NIPT, which is available in New Zealand but at a price, is that it’s available much earlier than invasive testing which samples either placenta or amniotic fluid. It’s also a much more accurate screening tool and combines testing which is otherwise a panel of different tests.
“As a screening tool for things like Down syndrome, it is more accurate than the current non-invasive methods but it’s not completely 100 percent diagnostic.”
Roberts says that while the test might be easier, it sets up difficult consequences for parents.
“One of the challenges is not necessarily whether the test is a good thing or a bad thing, it really depends on context. What I mean by that is two things; one is equity, is this something that’s available to everyone or only those that can pay for it and I think that raises and important we have equity of access because we have such a powerful technology. If there are only some people who can pay for it, they can pay to opt out of genetic risk, if you like, and that does set up quite an ethical conundrum.
Photo: Chrystal Ding
“More important than what you should or shouldn’t be testing for is how are people making those decisions and what support have they got; have they got support for genetic counselling, have they got time to make those decisions, are they free from judgement, have they got the space to think through the choices in the context of their own values and beliefs and they’re not rushed into it. All those implementation questions are really important.”
Research has found in Denmark and Iceland, where the test is offered to all pregnant women, there’s been a huge reduction in the number of people with Down syndrome being born. Its estimated 95 percent of women opt to abort if the diagnosis is Down syndrome.
Roberts says that we’ll never have a crystal ball that will lead to ‘designer’ babies due to the unknowns and environmental factors that can cause issues but with the trending down of baby’s born with chromosomal issues such as Down syndrome we are getting into murky waters.
“I do think it’s important when we are implementing this technology that we listen to voices from a disability rights perspective who point out that the barriers they face and whether they experience their condition as severe or not is because of the way they’re treated in the society we live in.
“The more you test for conditions and the more you allow for this to be selectively terminated in a prenatal setting, the more you ingrain those kinds of attitudes that make their life harder in society.”
He says there needs to be a middle path where the choice of the individual intersects wider society and people don’t feel as if their choice to keep a child is a ‘inconvenience’ or burden to society.
“I think it’s important to see healthcare as a common good. Something that we all pay in to and we all benefit from rather than something I pay for myself. I think you then can extend that to all other forms of social care and, at that point, it’s easier to see a world in which we all benefit from a society in which people can make the decisions that are right for them even though it might not be the right decision for us and we don’t see it as kind of mutually exclusive.
“I think it’s easier in a world where you have well-funded healthcare and well-funded social care. If you start having a more individualised and commodified idea of these services. If you have a world where you have to pay for your healthcare, you either see it as a burden on the system – because you’re making it cost more – or you just pay for it yourself and don’t see any support.”