Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation

Abstract

The inherited disease community in Sri Lanka has been widely neglected. This article aimed to present accumulated knowledge in establishing a pro bono cost-effective national, island-wide, free-of-charge molecular diagnostic service, suggesting a model for other developing countries. The project provided 637 molecular diagnostic tests and reports free of charge to a nation with limited resources. We pioneered the implementation of mobile clinics and home visits, where the research team acted as barefoot doctors with the concept of the doctor and the researcher at the patient's doorstep. Establishing pro bono, cost-effective molecular diagnostics is feasible in developing countries with limited resources and state funding through the effort of dedicated postgraduate students. This service could provide an accurate molecular diagnosis of Duchenne muscular dystrophy, Huntington's disease, Spinocerebellar ataxia, and Spinal muscular atrophy, a diagnostic yield of 54% (343/637), of which 43% (147/343) of the patients identified as amenable for available gene therapies. Initiated human resource development by double doctoral degree opportunities with international collaborations. Established a neurobiobank and a national registry in Sri Lanka, a rich and unique repository, wealth creation for translational collaborative research and sharing of information in neurological diseases, as well as a lodestar for aspiring initiatives from other developing countries.

Fig. 1. Summery of each key strategic areas in establishing of pro bono molecular diagnostic service.

The key strategic areas comprised of Infrastructure and human resource development achieved through international/ local funding and Double doctoral degree opportunities with international collaborations, Island wide Patient recruitment based on neurology clinic visits and pro bono mobile home visits followed by Molecular diagnostics.

Fig. 2. The proposed structure for “Genomic Odyssey Board”.

It is proposed to have multidisciplinary panel of experts including medical geneticists, Neuroscientists, Clinicians, Neurologists/ pediatric Neurologists, Genetic counselors and international experts in the relevant field. This approach will lead to molecular diagnostics pertaining to the chosen phenotype.