Aim: To evaluate precision medicine (PM) initiatives in a South African public healthcare epilepsy service for children.

Methods: Mobile health (mHealth) technology which allowed recording of seizures, medication, sleep, mobility and quality of life and health visits, and genetic testing with a customised gene panel and pharmacogenomic arrays, were piloted in 39 children with drug-resistant epilepsy attending Red Cross Hospital. The data from these PM initiatives and clinically collected data were analysed.

Results: Significant differences between seizure frequency but not duration was found between mHealth and clinic records. Additional findings not reflected in clinical records were activity levels being below those expected for age-matched controls and a short average nocturnal sleep duration and less deep sleep which was underreported by carers. Epilepsy aetiology varied in the cohort, with structural abnormalities being most common and no aetiology found for 35.9%. Five individuals (12.8%) had a potential genetic cause. Genetic analyses confirmed pathogenic variants in two different probands in SCN1A, one likely pathogenic variant in GRIN2A, and two variants of unknown significance GABRG2 and GRIN2B. Pharmacogenomic analyses were constrained by the sample size and population homogeneity but showed variants of interest: CYP2D6 rs28371725 (p=0.05), EPHX1 rs1051740 (p=0.02), and SCN1A rs3812718 (p=0.04), with EPHX1 rs2234922 (p=0.08).

Conclusion: Precision medicine using mHealth and genetic testing is feasible and provides value to the care of children with drug-resistant epilepsy in a resource limited setting. The study informed establishment of diagnostic testing for epilepsy and provided insight into the lives of children with drug-resistant epilepsy.

Ian Olivier
University of Cape Town
South Africa

Karen Fieggen
University of Cape Town
South Africa

Sandra Komarzynski
Aparito Ltd
United Kingdom

Elin Davies
Aparito Ltd
United Kingdom

Richard Burman
Oxford University
United Kingdom

Caitlin McIntosh
University of Cape Town
South Africa

Alina Esterhuizen
University of Cape Town
South Africa

Jo Wilmshurst
Red Cross War Memorial Hospital/Neuroscience Institute