Supporting decision-making around NIPT

We know at ARC that there are concerns about the ethics of NIPT and the kind of message perhaps this safer testing, this more effective testing for genetic conditions sends to those people living with genetic conditions. I can see the concerns but I think because of the work we do with women and couples in ARC we can reassure people on that score in that the couples that are given diagnosis will go into testing, the vast majority of those couples do not make decisions lightly. They don’t make decisions that are disparaging of those living with conditions. They make decisions that are very individual and personal to their own circumstances. Those decisions aren’t easy.

And again part of our job is to make sure they have all they need, the information, support they need to make the decisions that are right for them but they are really not making a comment on those living with conditions. And I think something that is interesting is that within the 20 or 30 years that screening has increased or antenatal screening has increased we’ve seen at the same time things improve from those living with disabilities. It is certainly not perfect and certainly the last few years perhaps things have gone backwards a little bit but the two things are not mutually exclusive.

We can have antenatal screening that is very firmly based on individual choice and still very much value those living with genetic conditions and other disabilities. Here in the UK at the moment NIPT for Down syndrome is mostly available in the private sector. However, the UK National Screening Committee, that is the body that makes recommendations about population screening programs, it is a body that I am lucky enough to sit on in fact, has made a recommendation to the government that we do bring in NIPT for Down syndrome into the current screening program we have for Down syndrome Edward syndrome and Patau syndrome.

And it is quite a careful plan in that the idea is to make it what we could call a contingent test. So if a woman comes back with an assessment of her chance of her baby having one of the conditions that is higher than 1 in 150, instead of being offered an invasive diagnostic test she would be offered NIPT as a next step. Of course she can have the invasive test if she wants it. So the idea is it will allow more women to avoid risky, invasive prenatal diagnosis.

We would hope that a decision would be made on this fairly soon so more women can access the testing because we know it has the potential of making the screening program we have that much more effective for women. Again, there may be some things to think about in the future in that it is a risk-free test it does give an accurate screening result so women, well some women are going to be facing information that perhaps they didn’t quite expect because at the moment we have an uptake of screening for trisomies as they called of about 70%. So that is 70% of women that opt-in to have screening.

Some of the 30% that opt-out will opt-out because they don’t feel it is important to them, they don’t feel that they need to know about the three conditions. But some of that quota of people will make the decision because they don’t want to be put in a position to make decisions about risky testing. So we can probably predict that the uptake rate of screening will increase.