Table 3.

Potential negative impacts for parents arising from offering RGS in critical care settings.

Topic	Illustrative quotes
Projecting the future
It can be confronting to be offered RGS	Q1: “So for me, it was a very scary thing to think oh my God, why are they trying to find something wrong with him? Yeah, because—I just kept thinking oh my God, do they think it’s going to be a neurological issue? Are they going to find something to do with his communication issues? Are they going to say ah he’s got a physical element that you know, is related to a symptom?” Parent-8, child partially diagnosed with STING-associated vasculopathy with onset in infancy
Parents face the possibility of a devastating diagnosis	Q2: “It needed to be done to rule things out but we did feel that perhaps she didn’t have this condition, and that there were explanations for her appearance at that point in time. She was quite unwell. But that was tough for us but then it needed to, the testing needed to happen…That was one of the difficult times that sort of stands out a bit…We needed to say yes to it, which was difficult…It did affect [my wife], worrying about this [condition], and then when it was found later on that she didn’t have the disease she was quite emotional at that time. Yeah that did upset her quite a bit.” Parent-2, child partially diagnosed with Blepharophimosis, ptosis, and epicanthus inversus syndrome
Mixed feelings about obtaining a diagnosis	Q3: “It’s hard because half of you wants to find something but then the other half you don’t want to, you know, I just don’t know how to feel about it. Are you better off not knowing if it’s going to be bad news? Or…I don’t know…I don’t know! Obviously I want to know if it’s treatable and if it can be treated then that’s great, but then if I find out that it’s something that’s terminal…then it’s not so good is it.” Parent-4, child not diagnosed
RGS another worry in the background	Q4: “Some people don’t worry about that at all and they forget almost. In fact some people genuinely forget that they’ve had the test because there’s so much going on in their lives, lots of the other things are far more pressing. But some people just having that in the background, it’s another thing that they worry about. And it’s very, you can’t predict upfront who’s going to react in what way, so that can be a complication.” Professional-15, genetic clinician
Unintended consequences following RGS results
Expectations are high and the diagnosis maybe devastating	Q5: “Even if they do get a diagnosis, that diagnosis might not change anything but actually it might be a little bit of a death sentence and that is horrendous, like, for parents to have such hope and optimism and for that to be turned into something so negative, like, saying ‘oh we actually do have a diagnosis and I’m sorry it’s not good news’” Professional-7, medical doctor trainee, consenter for RaPS
Devastating diagnosis delivered before a chance to bond with the child	Q6: “Getting a devastating diagnosis before you’ve had the chance to bond with the child for instance, you can imagine maybe very difficult for a family to contend with. Whereas receiving a devastating diagnosis after a child has had a period of showing no progress or deteriorating and it being a much more slower realisation that actually things are not right, it maybe that a diagnosis at that point is something that’s easier for their family to contend with, rather than it being a real shock in the face of a child that’s unwell but hasn’t had a period of time, you know, to get to that point.” Professional-18, genetic clinician
Findings may bring additional problems to consider and concerns about the future	Q7: “They’ve got a young baby and actually maybe the outcome is going to be terrible whatever, maybe they don’t need their life sort of invaded by another set of things to think about, when actually the baby’s heart’s not working and in fact that’s the most important thing that day, and in fact maybe sadly that will be the thing that means the child doesn’t survive. Then to have us crowding in and coming in with another set of problems, which might for example then bring news which is oh by the way, the risk in another baby is high, that wasn’t something they were having to deal with at that point” Professional-15, genetic clinician
Partial, uncertain or no findings may add to anxiety and worry	Q8: “I haven’t got a reason why this happened, I’m always gonna like—want to get to the bottom of it.” Parent-10, child not diagnosed, VUS reported Q9: “Still a bit of anxiety because [Name] has so many other things. It would have just been nice that there was something that unified all of his issues” Parent-8, child partially diagnosed with STING-associated vasculopathy with onset in infancy
Disappointment and frustration when there is no diagnosis and no other tests to try	Q10: “They wanted to know and they were disappointed that we didn’t know…And it is tough because the next question is obviously what do we do next and, at the moment, the answer is ‘well nothing because I don’t have any wider testing to offer, we are just going to have to wait and see how this baby does and what becomes available in future’.” Professional-1, genetic clinician