Table 2 Acute precision medicine interventions in thirteen of eighteen infants receiving genetic disease diagnoses and the resultant changes in outcomes
From: Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
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%) |
