Table 3

GPACSS usability: human factors of CDS design and Organisational implementation factors through tester Experiences*

Human factors of CDS designInterfaceMore training would be good… unless I was doing it all the time for all of my patients, every step, I might not realise that some of the features are available…’(Tester 3)
These bars are different lengths, so I assume it’s having something to do with frequencies… so I'm not sure why this part is purple…if there were something [on the assess diagnosis tab] that said this is 100% over here and this is 0% over here, that would kind of help, if I knew that that was the case… I'm not sure what these other colors are referring to.’(Tester 5)
InteractionTo me, the green bar in it shows me they are confident that this genetic variant aligns with the phenotypic markers that we have identified. I don't necessarily know how far the bars will tell me they're confidence in pathogenic vs VUS.’(Tester 3)
It’s going to take a lot to learn. A lot of clicking back and forth and it’s not super intuitive but I get it. So, the report gets generated and that becomes part of the record. I can see how that can be helpful because it has now particular phenotypical diagnosis and even genetic finding(Tester 2)
InformationThe term pertinent gene zygosity is not something I would normally make part of my lexicon…I have a general sense of the term zygosity but I can't remember the last ten years using that term in any of my discussions in clinical care or genetics in some of the cases I found what’s their zygosity (Tester 2)
But the variant severity score doesn't mean anything to me personally. To me it’s easier to know, if you verify know the true classification they are giving it… Pathogenic, likely pathogenic VUS benign.’ (Tester 3)
I think this one is nice [the ‘Mention’ displayed in a flagged finding]. Whenever someone says it had been noticed earlier by, it’s nice when someone is talking about their niece or nephew, or like a proband cousin, they are saying they had myopia and I remember them having glasses before they were 5 years old.’ (Tester 3)
Organisational Implementation FactorsAcceptabilityI would use it most of the time. To me, this is the frontier of genomic medicine and I look at my role as not only taking care of a patient but figuring out how we make genomics part of everyday medical practice. The useful things in the chart, genetics people can now get to right away’.(Tester 2)
‘…Typing them up, writing the summary [of all the patient findings in the chart]. If I could see what’s been flagged in the chart, see what has not actively been flagged and decide do I need to go back and look at it or not. It would save my time’ (Tester 3)
I think the interface is really good, in that you have that ability to explore those variants that may or may not make it on the reports that we get now, so you can drill deeper if you want.(Tester 5)
Perceived Need‘…The report is a great idea for highlighting why you think it’s [the care instructions] important, [in] a standard format… The average primary care physician that gets the genetic testing reports, says I don't know what this means at all. I think this [the Prognosis Table] is a step towards making it more understandable.’ (Tester 2)
‘Everything’s there [in the chart] and the question is how easy is it to find. I'm sure if you're a malpractice lawyer you get very good at pulling stuff out of these charts and asking why didn't you see that. Yet I can't look at everything.’ (Tester 2)
‘This is stuff that you are doing anyway… you could make your note a lot shorter and just refer to that document [the automated Summary] … I like the idea that you can explore. Clinical genetics now is limited on time.’ (Tester 5)
Workflow FitIt’s nice because it helps guide me… it’s very easier for me to realize that Prader–Willi is associated with narcolepsy…’(Tester 3)
I think the nice part is I don't have to go searching myself to find all the signs and symptoms associated with it and potentially miss something, that I may not know is a less common finding or feature of the condition. That actually could be beneficial for a provider or for us to give to the testing lab, to say these are all symptoms that we see, and then analyzing the data’ (Tester 3)
  • *Comments from primary user-testers only (testers experienced with differential diagnosis of genetic conditions through sequencing): n=3; paediatric genetic counsellor, paediatric geneticist, internist ordering 4–5 exomes in the past month.

  • CDS, clinical decision support; GPACSS, Genotype-Phenotype Archiving and Communication System with SimulConsult.