Training teams to decipher developmental disorders in Africa

Summary

Developmental disorders (DD) such as intellectual disability (ID) and birth defects affect 1 in 20 persons. Individuals with DD are highly vulnerable due to high mortality and/or lifelong disability. DD have high financial and psychological impact on the person and their family. Individuals face many challenges, e.g. a diagnostic odyssey, lack of treatment or directed management, poor knowledge on natural history. This is in part due to a high etiological heterogeneity, which is genetic in 25-50%. Insight into the (genetic) cause of a DD is an important entry point to improve health of the child and his family and helps to combat false beliefs that lead to stigmatization and exclusion. Genetic testing by whole exome sequencing is standard care in developed countries, whereas in Low Income Countries access to genetics is limited or absent. Here, we envisage a durable change in the diagnosis of patients with a DD, building on the experience of Deciphering Developmental Disorders in Africa, a collaborative network between DR Congo and South Africa and KU Leuven (DDD-Africa). We will train interdisciplinary teams consisting of clinicians and laboratory geneticists from different African countries, as actors of change in the genetic diagnosis and clinical management of DD. A multistakeholder partnership will be established by building an international network, supporting long-time implementation of the acquired skills in clinical services and translate these skills into improved research and teaching in the field of medical genetics. We will contribute to several interconnected SDG’s, including improved health and quality of life for persons with a DD and their families in Africa (SDG3), reducing the associated poverty (SDG1), achieving gender equality and empowering all women and girls (SDG5) and reducing inequality, also by combatting disparities in access to diagnostic facilities (SDG10). By training future trainers, this ITP envisages inclusive an equitable quality education and promotes lifelong learning opportunities (SDG4).

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