Table 2.

Acute precision medicine interventions in thirteen of eighteen infants receiving genetic disease diagnoses and the resultant changes in outcomes

Infant ID	Causal gene	Medication change	Change in surgery	Palliative care initiated	Imaging or procedure change	Morbidity avoided	Mortality avoided
6011	NPC1	Miglustat started				Neurologic damage delayed	–
6012	ARID1B			Yes		Further futile intensive care	–
6014	NEB		Avoided muscle biopsy		Avoided EMG and NCS	Anaesthesia and muscle biopsy	–
6018	POLR1C				MRI of brain recommended		–
6019	GABRA1	Steroids weaned; confidence in therapy when readmitted			Avoided repeat EEG	Discontinuation of appropriate anti-epileptic at next admission	–
6020	TPM1		Cleared for cardiac transplant			Delay in heart transplant	–
6021	PCDH19	Ganaxolone started; confidence in medications for child and sibling					–
6024	PHEX	Start phosphate and high-dose calcitriol				Development of rickets	–
6026	JAG1		Avoided Kasai hepatoportoenterostomy			Kasai and liver transplant	83–94% decrease
6030	NF1				Brain MRI for tumour evaluation and MR angiography of renal arteries for stenosis	Potential early detection of NF1 associated tumors	–
6041	KCNQ2	Carbamazepine started; phenobarbital weaned				Prolonged uncontrolled seizures with potential neurological damage	–
6053	ABCC8		Earlier partial pancreatectomy			3 additional weeks of hypoglycaemia with potential neurological damage	–
6056	ACTG2	Started cisapride
Total		5 (28%)	4 (22%)	1 (6%)	4 (22%)	10 (56%)	1 (6%)