The Clinical Autopsy and Genomic Testing

Pathobiology of cardiovascular diseases: an update

“…A N U S C R I P T 6 consent for post-mortem genetic testing and determining who conveys the results, and how potentially actionable molecular diagnoses are explained to the next-of-kin [37].…”

BRCA1 and BRCA2 carriers with breast, ovarian and prostate cancer demonstrate a different pattern of metastatic disease compared with non‐carriers: results from a rapid autopsy programme

“…Pre‐ and postmortem magnetic resonance imaging (MRI), computerised tomography (CT) and positron emission tomography (PET) imaging is increasingly used as a surrogate for clinical autopsies, but with an awareness that imaging may not be suitable for all tumour morphologies 1,2 . This waning number of clinical autopsies has led to the establishment of research‐driven rapid autopsy programmes to support innovative research in the era of precision medicine 3–5 . These programmes have highlighted the complexity of clonal evolution, pathways involved in drug resistance, new treatment options based on a patient's genomic profile 5–7 and generated patient‐derived xenograft models to facilitate downstream in‐vivo and in‐vitro research activities 8–10 .…”

“…1,2 This waning number of clinical autopsies has led to the establishment of research-driven rapid autopsy programmes to support innovative research in the era of precision medicine. [3][4][5] These programmes have highlighted the complexity of clonal evolution, pathways involved in drug resistance, new treatment options based on a patient's genomic profile [5][6][7] and generated patientderived xenograft models to facilitate downstream invivo and in-vitro research activities. [8][9][10] Others have reported cancer type-specific metastatic patterns of spread, [11][12][13][14] a major limitation of these studies is that only the heavy burden of disease in common affected sites, such as bone, lung and liver, has been investigated.…”

Optimal DNA quality preservation process for comprehensive genomic testing of pediatric clinical autopsy formalin-fixed, paraffin-embedded tissues

“…Studies have also reported the analysis of stillbirth or early infant death through whole genome/exome sequencing [6][7][8][9][10]. Therefore, there is a need to incorporate molecular biology techniques into clinical autopsy analyses [11], especially in pediatric cases. In the future, in addition to whole genome sequencing, it might also be desirable to conduct epigenetic analysis or gene expression analysis of organs that show abnormal autopsy findings.…”