Table 1

The reassurance gap

GCr07 “I think there’s an inevitable tension between the experiential and the technical, that you generally want to reassure someone that something is low risk and that this is good news and want to take away perhaps some of that fear or anxiety that they might be living with. Sometimes those two things just don’t meet…”
CG02 “I had been reassuring to some couples…and I might have just been lucky…”
GCr20 “…it [a subsequent affected pregnancy] took us all by massive surprise and was quite traumatic as well. Even though you review your correspondence, you wrote all the right things, everything. All the advice they were given was correct. It still makes your heart stop when you realise that a baby has had a recurrence and the implications of that on the patient, who had to have a late termination of pregnancy, and who obviously was absolutely devastated.”
CG10 “I guess you always worry that you haven’t done your research well enough or with these very rare groups of disorders that I’ve missed something…You know, do I need to scour the literature every time for a new rare de novo disorder to make sure that actually for some reason there’s not a higher published recurrence risk with that disorder? I guess it’s a little bit of uncertainty but normally, as it flashes in my mind, I just provide a generalised recurrence risk.”
GCr17 “I think the real difficulty with the situation at the moment is there will be a lot of couples where actually there is no risk, but you can’t say that, and then so everyone falls into the 1% whereas by doing this [PREGCARE] you’ve taken away the 0% bit, so people at least know that they are in the category of it could happen again.”
CG10 “These things, for interested couples, you might throw some of those facts out there but those are incredibly complex pieces of information that I’m just throwing out there that need a lot of unpacking. I only understand that after many years…”
GCr19 “I think if you’re explaining about gonadal mosaicism and explaining why the risk is not kind of zero, it’s really confusing. It’s really difficult to explain.”
CG15 “I guess I’m not doing…there’s not enough time to, and it doesn’t help their understanding, I don’t think, when they’re first hearing about mosaicism that day, about the technicalities of every different type of…mosaicism”
GC12 “Certainly, when we are doing testing in the first place to try and find a cause of their child’s condition, we often are talking about the fact that it might be a recessive condition and the recurrence risk is twenty-five per cent…”