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Post mortem genetic testing in young individuals: What clinical medical practitioners need to know
Barbara Van Deventer1, Lorraine Du Toit-Prinsloo2, Chantal Van Niekerk3
1University of Pretoria. u26376645@tuks.co.za.
Insights
Forensic autopsies reveal inherited cardiac diseases in up to 40% of young sudden deaths in South Africa. Genetic testing offers crucial clinical benefits for diagnosing and treating at-risk family members, improving public health outcomes.
Area of Science:
- Forensic Pathology
- Cardiovascular Genetics
- Public Health
Background:
- Medico-legal autopsies are crucial for identifying natural disease as the cause of death.
- Cardiovascular diseases, particularly sudden unexpected deaths in the young, are a growing public health concern in Africa.
- South Africa faces a significant burden of sudden unexpected deaths among young individuals due to cardiovascular issues.
Purpose of the Study:
- To highlight the role of forensic medical practitioners in identifying underlying natural diseases.
- To emphasize the potential of post-mortem genetic testing in diagnosing inherited cardiac arrhythmogenic diseases.
- To underscore the underutilization of genetic findings for clinical benefit in South Africa.
Main Methods:
- Analysis of medico-legal autopsy data.
- Post-mortem genetic testing for inherited cardiac conditions.
- Review of cardiovascular disease trends in South Africa.
Main Results:
- Underlying natural diseases are frequently identified as the cause of death in autopsies.
- Post-mortem genetic testing detects inherited cardiac arrhythmogenic diseases in up to 40% of young sudden deaths.
- Genetic analysis provides significant clinical benefits for diagnosing and treating at-risk family members.
Conclusions:
- Forensic pathology data is vital for public health surveillance and identifying priority areas.
- Inherited cardiac disorders are a significant, often treatable, cause of sudden unexpected death in young South Africans.
- Integrating genetic findings from forensic autopsies into clinical practice can improve diagnosis, treatment, and family screening for cardiovascular diseases.
Abstract:
Forensic 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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