TABLE 3.

Views on the pES service.

Quote number	Illustrative quote
Overall views on the pES service
Q1	“We know with R21 [pES] that we’re giving them the most detailed information that we have access to. And I think that is the biggest advantage because we have the real potential of giving a definitive diagnosis in the mid trimester usually and then we give them the options.” - Professional 13, FM Consultant
Q2	“In the past it used to be so frustrating to sit with the parents and say we don’t know what’s wrong but there is something wrong, whereas you know we are able to say you know we have much more detailed tests…You know it feels better. I mean I feel better, to be honest.”–Professional 55, FM Consultant
Q3	“It just means that there is more equity in accessing genetic testing across the country, so it’s not dependant on your contacts or what your lab’s able to do for you, and it feels like there’s just a much more equitable service.” - Professional 41, Clinical geneticist
Mixed views on EC and referral processes
Q4	“I can see why it [the eligibility criteria] was chosen for those things and I can understand that it isn't always going to be what it is now and it’s already been amended, hasn’t it, different things added in.” - Professional 31, Clinical geneticist
Q5	I have to admit to some frustration sometimes when I think there’s a case where a patient would benefit from exome sequencing and it’s turned down. - Professional 63, FM Consultant
Q6	“Our ultimate aim would be that we as clinicians, as experienced clinical genetics consultants should be the gatekeepers of the service rather than the lab and having to pass–because we feel that in trying to seek approval, valuable time is lost.” - Professional 21, Clinical geneticist
Scope of the pES service
Q7	“There’s definitely an argument for doing that because you then don’t get, you know, too much noise and it gives people more uncertainty and more trauma and more anxiety in lots of ways.So I think I’m happier with it being a panel than an exome.” - Professional 19, Clinical geneticist
Q8	“You’ve got to expect that more genes will be added as they are discovered, then as long as there’s, you know, adequate evidence that they’re real.You can’t freeze genetic knowledge at a point in time and say if you’re unlucky enough to develop a disorder that isn't discovered until after this then tough we’re not going to identify it.” - Professional 46, Clinical geneticist
Good communication and multidisciplinary team working is crucial
Q9	“The thing that was a challenge that how is that going to go and how are we going to communicate, but I think it was very transparent and very open, so once we’ve overcome that fear of “oh it”s a new thing, how is that going to work?’, I think it wasn’t a massive issue in the end.” - Professional 54, Clinical geneticist
Q10	“I would say this time last year before we went into the centralisation process, you know, we didn’t really know each other or have a relationship particularly but I think we’ve definitely built that over the last year, because we’re having regular weekly meetings, regular contact.” - Professional 17, Genetic counsellor
Q11	“Switching it to Teams has been better because the attendance is better…there’s the ability for people to be there and actually we get more attendance in the neo-natal teams now as well, which is great, because some of it’s about management of cases and things as well, so it works really well.” - Professional 17, Genetic counsellor