• S. Afr. Med. J. · Apr 2023

    Post mortem genetic testing in young individuals: What clinical medical practitioners need to know.

    • Barbara Van Deventer, Lorraine Du Toit-Prinsloo, and Chantal Van Niekerk.
    • University of Pretoria. u26376645@tuks.co.za.
    • S. Afr. Med. J. 2023 Apr 4; 113 (4): e3e3.

    AbstractForensic medical practitioners are in a unique position as they observe the exact pathology of various diseases in thousands of autopsies performed each year. Most medico-legal autopsies reveal an underlying, natural disease as the cause of death. Such data, relayed to the various stakeholders in the public health sector (including clinical medical practitioners), contribute to determining the population health status as well as identifying and dealing with priority areas. One of the most important public health concerns in Africa is that of the continuous increase in cardiovascular diseases. An important particular subset of cardiovascular diseases in South Africa, is the sudden unexpected deaths in the young population. Research on these deaths has shown that post mortem genetic testing can detect an inherited cardiac arrhythmogenic disease as the cause of death in up to 40% of these cases.  The high heritability of cardiac disorders and the fact that it is often treatable, genetic analysis of such cases provides significant clinical benefit with regard to the diagnosis and treatment of family members at risk for the same disease. The societal benefits from clinicians receiving such evidence-based findings associated with the cause of a patient's sudden death, is currently underutilized in South Africa.

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