. 2019 May 31;27(10):1493–1501. doi: 10.1038/s41431-019-0429-y

Table 2.

Perceived clinical utility of ES/GS in NICU/PICU described in interviews with intensivists

Perceived utility: sub-theme	Representative quote
Anticipating information will guide prognosis but impact on immediate management varies	‘Trying to find a diagnosis for the families to bring everything together so that we can base a prognosis for the future… (The) majority of the time it doesn’t make too much of a difference (to management decisions)’ [Intensivist interview, ID04] ‘…Kids who turn out with what we suspect could be a mitochondrial disease…we do fast whole genome sequencing and then we are able to change management quite significantly with the results we get’ [Intensivist interview, ID01]
Saving time and money	‘Exomes are enabling us to get more rapid diagnoses for a greater range of conditions. I don’t know what the relative costs are but it’s certainly cheaper than doing a bunch of complex tests and (then) an exome. If you can just do an exome then that’s cheaper. I guess the exome cost itself is dynamic and changing year to year’ [Intensivist interview, ID03]
ES/GS may not be superior to clinical diagnoses or simpler tests	‘I don’t think all patients need it, because if we have obviously a concern about an underlying genetic syndrome, for example, that we can clinically diagnose and back up with a more simple test…I do think that there are a number of families that would benefit from it – I can’t give you numbers of that’ [Intensivist interview, ID04]

Perceived utility: sub-theme

Representative quote

Anticipating information will guide prognosis but impact on immediate management varies

‘Trying to find a diagnosis for the families to bring everything together so that we can base a prognosis for the future… (The) majority of the time it doesn’t make too much of a difference (to management decisions)’ [Intensivist interview, ID04]

‘…Kids who turn out with what we suspect could be a mitochondrial disease…we do fast whole genome sequencing and then we are able to change management quite significantly with the results we get’ [Intensivist interview, ID01]

Saving time and money

‘Exomes are enabling us to get more rapid diagnoses for a greater range of conditions. I don’t know what the relative costs are but it’s certainly cheaper than doing a bunch of complex tests and (then) an exome. If you can just do an exome then that’s cheaper. I guess the exome cost itself is dynamic and changing year to year’ [Intensivist interview, ID03]

ES/GS may not be superior to clinical diagnoses or simpler tests

‘I don’t think all patients need it, because if we have obviously a concern about an underlying genetic syndrome, for example, that we can clinically diagnose and back up with a more simple test…I do think that there are a number of families that would benefit from it – I can’t give you numbers of that’ [Intensivist interview, ID04]