In this study matched funding comes from the South African Medical Research Council and is led by Principal Investigator Dr Karen Fieggen, University of Cape Town and Clinical Co-Investigator Prof Jo Wilmshurst, of Red Cross Children’s War Memorial Hospital.
Epilepsy is one of the most common neurological disorders worldwide with over 65 million people living with the disorder (1). Studies have shown that the prevalence of epilepsy in low to middle income countries is substantially greater than in more resourced countries – 81.7 compared with 45.0 per 100,000 and predominately affects a younger population(2). Recent estimates in 2010 suggest that epilepsy contributes to 0.7% of the global burden of disease and the Global Burden of Diseases, Injuries, and Risk Factors Study 2010 found that the burden resulting from uncontrolled epilepsy has a disability weight second only to HIV infection(3).
There is little data on quality of life for South African children with epilepsy and their families. Resources for management of epilepsy in Africa are extremely limited reinforcing the need to gather data on cause and course of the disorder and develop innovative strategies for optimising care for the individual patient (4). Such interventions must be uniquely relevant to the local setting. As such, without piloting these interventions it will not be possible to adjust them to optimal effect.
Precision medicine (PM) is a medical model that proposes the customisation of healthcare, with medical decisions, practices, or products being tailored to the individual patient. PM aims to optimise therapeutic benefit to patients or groups of patients. PM is becoming the next goal of global health care. There is a strong assumption by healthcare funders and users alike in resource limited countries like South Africa (SA) that PM is un-affordable and unsuitable for their population. This thinking needs to be challenged. The benefits from a PM approach could be cost effective in both financial and humanitarian terms (5). There is very little published on the role of PM in resource limited countries but there is increasing evidence that a PM approach is of value in epilepsy globally(6).
As next generation technologies have permitted the wide scale screening of genetic contributions to common disorders. Determining genetic aetiologies in many common disorders such as epilepsy facilitates understanding of pathophysiology with subsequent implications for management (7,8). Research has shown that many types of epilepsy have a genetic basis and diagnostic genetic testing for epilepsy is becoming more available in many parts of the world (9,10). Genetic testing has particular relevance when it directly impacts on patient response to medication – from efficacy profile achieved to side effects observed.
Mobile health (mHealth) solutions using smart phone apps also has widescale deployment possibilities. The technololgy will focus on medication adherence support, real-time reporting of seizures by parents via the app and reporting on the patients quality of life. A paired wearable device will also be deployed to explore seizure detection and events leading to a seizure which might prove to be useful in the management of these patients. Precision medicine initiatives including genetic and pharmacogenomics testing, and home technology based monitoring has the potential to improve the management of children with epilepsy in South Africa, and beyond.
Aparito CEO, Dr Elin Haf Davies reported, “We are thrilled to be leading on this exciting initiative which has the potential to have a positive impact on the management of children with epilepsy”.
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