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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Results of Molecuolar Genetic Autopsies in Florida
Results of Molecuolar Genetic Autopsies in Florida
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The results of molecular genetic autopsies in Florida reveal that this method can provide insights into the underlying causes of sudden unexplained death (SUD) and help identify at-risk family members. Molecular autopsies can be performed using DNA extracted from dried blood spots or even paraffin embedded tissue. In cases where no definitive cause of death is identified, molecular autopsies are an important component of forensic protocols for investigating SUD.<br /><br />Sudden death occurs annually in 1,000-5,000 children and young adults, with 70-80% of cases meeting the criteria for sudden infant death syndrome (SIDS) in infants under 1 year of age. Structural abnormalities, such as dilated and hypertrophic cardiomyopathies, arrhythmogenic right ventricular dysplasia, congenital vascular abnormalities, and myocarditis, are often identifiable at autopsy. However, half of all pediatric SUD cases have a normal structural autopsy and remain undiagnosed.<br /><br />Non-structural cardiac diseases, like channelopathies, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome, as well as inherited metabolic disorders and other genetic conditions, may not have apparent morphological markers detectable at autopsy. In these cases, molecular autopsies can provide insight into the underlying cause.<br /><br />The study conducted in Florida using molecular autopsy screening identified a clinically significant molecular diagnosis in 68.9% of cases. In some cases, more than one genetic cause potentially contributing to SUD was detected. The molecular autopsies were performed using massively parallel sequencing with gDNA from dried blood spot specimens.<br /><br />Exome sequencing using dried blood spots offers advantages such as covering all regions of interest, being cost-effective and time-efficient, and requiring only 3-5 drops of blood. The turnaround time for this type of sequencing is 4-6 weeks. The cost of the molecular autopsy is $325.00 if clinically significant variants are identified, and $250.00 if no clinically significant variants are found. The first specimen received from a new submitter is free.<br /><br />The molecular autopsy process involves submitting a dried blood spot and a requisition form, followed by whole exome analysis based on the provided phenotype. The molecular autopsy can lead to diagnoses in 73% of cases, with cardiomyopathies, arrhythmias/channelopathies, aortopathies/connective tissue disorders, immune/metabolic disorders, and genetic epilepsy syndromes being the most common findings.<br /><br />Overall, the results from this study show that molecular autopsies using dried blood spots can provide important insights into the genetic causes of sudden unexplained death.
Asset Subtitle
Presenting Author - Edwin Naylor, Ph.D., M.P.H.;
Meta Tag
Genetic Testing
Identification of Disease Genes
NextGen Sequencing
Pathology
Presenting Author
Edwin Naylor, Ph.D., M.P.H.
Keywords
molecular genetic autopsies
sudden unexplained death
DNA extraction
dried blood spots
forensic protocols
structural abnormalities
pediatric SUD cases
non-structural cardiac diseases
exome sequencing
genetic causes
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