Table 2 Equity of access.
Eligibility criteria, gene panel contents, and resource allocation | |
Q1 | “It will be good when we can broaden the inclusion criteria because I suspect that actually there are cases out there that are not included in the check list that we’re missing. And I think that’s important from a parent’s perspective.” Professional 2 — FMU Consultant. |
Q2 | “So, yeah, we’re really fortunate that the counsellor pushed and said ‘no please go ahead and do it anyway’, so I’d maybe consider what the criteria are and whether it could be more broad in those kind of circumstances, because we could quite easily have not found these results out.” Parents 7 & 8, diagnosis from pES (termination of pregnancy). |
Q3 | “We’re hitting a diagnostic yield of 40% which is excellent when you look at a test and what a high diagnostic yield, but we must be missing some and those cases are going to come back to bite us at some point potentially.” Professional 60 — Clinical geneticist. |
Q4 | “Well, financially, absolutely it is appropriate because money matters and if one hasn’t got enough money and resources to do a test for everyone then one has to ration it. Distributive justice has always existed in healthcare…I aspire that there would be the ability in the future to offer the test to many more people, but currently I understand that we are bound by rules of efficiency and rules of cost efficiency.” Professional 14—FMU Consultant. |
Q5 | “I understand there’s obviously a big cost with it and all of that, but the more research and development that can go into making that nice and clear so that people can access it when appropriate the better really, because it made all the difference for us I would say.” Parents 31 & 32, diagnosis from pES (termination of pregnancy). |
Variation in clinical decision-making and awareness | |
Q6 | “I don’t think it’s standardised anyway. You will never remove a degree of individuality from discussions of any nature, whether you’ve got eligibility criteria or not because there’s always a degree of human interpretation, particularly when you’re thinking about things that present prenatally.” Professional 59 - Clinical geneticist. |
Q7 | “I mean a classic is…’I think this is Down’s syndrome, so we’ll do a QF-PCR’. ‘Oh, it’s not Down’s syndrome. Oh, we’ll refer you to [hospital 1]’. By which time you’ve gone on so many weeks and they come and see you…and they’ve obviously missed the care that they might have received had they come straight to [hospital 1].” Professional 36 – FMU consultant. |
Q8 | “There’s lots of peripheral hospitals that don’t always refer to our FMU, so if they don’t get referred to our FMU then they don’t get access to this service…I think some of it’s about cost because they get charged for tertiary referrals…I think some of it is they feel like they can manage it and they just think well what else can they offer or they feel like they can do it all.” Professional 60 - Clinical geneticist. |
Q9 | “I know other units have said everyone comes to the tertiary centre, but particularly in [place] where people don’t want to travel, don’t have the money to travel, can’t travel, they will be very insistent on staying local for as long as they can…Whereas if they were local to [hospital] in the same socioeconomic class, they would have received that.” Professional 36 – FMU Consultant. |
Q10 | “I remember going there, having done like an NHS appointment a few days prior and them telling us, like, we’ve ruled out everything severe that we think and we think you’re fine…and then like ‘no actually there could still be something seriously wrong’ and that they would have just let us continue with it if it really wasn’t for that private doctor pushing for us to ask for exome sequencing.” Parent 29 – mother, diagnosis from pES (termination of pregnancy). |
Litigation worries | |
Q11 | “What happens if I say this is monogenic, […] refuse [pES] and then they have a child with Kabuki Syndrome—what happens then?” Professional 53 — Clinical geneticist. |
Q12 | “I’d say that in fetal medicine, in general, there is a big concern about wrongful birth…And so there is a real push to want to use this as a test of exclusion. If I haven’t offered that test may I then be told that I should have offered that test?.” Professional 59 — Clinical geneticist. |
Managing equity of access issues on the frontline | |
Q13 | “Getting parents and the baby DNA is difficult, particularly dads and the delay in the geneticist approval means that you don’t know sometimes whether you should take the consent and do the bloods because you may not have another opportunity to but then you’re setting up the expectations of the parents unrealistically or unfairly.” Professional 3 – FMU Consultant. |
Q14 | “The patients are starting to find out now, which is good, but that puts more pressure on because you have a couple who are educated, they know what’s available, they want the test, there’s a good reason for doing it and then the lab refuse to do it, I mean, what position does that put us in?” Professional 53 - Clinical geneticist. |
Reflecting existing health inequalities | |
Q15 | “So we travelled by car, that was absolutely fine for us, no problem…if you didn’t have a car that would have been a big overhead, public transport and all that stuff…we didn’t have to worry about it, but I guess that is a consideration for patients who can’t do that.” Parents 7 & 8, diagnosis from pES, (termination of pregnancy). |
Q16 | “I had a lady last week to consent and…I was lucky because the mum understood me but couldn’t really speak very good English. The interpreter started and the mum interrupted and she said, “She’s not saying the same as you” and then the interpreter put the phone down because basically she just said “The baby’s heart’s abnormal” and what I was saying to her was in much more detail than that.” Professional 34 — FMU consultant, |
