Genes in the Basement, Postmortem Genetic Testing…and 3 (New) Realities.

Abstract

We all have a treasure trove of things—squirreled away in knick-knack drawers or long-forgotten boxes in the basement, storage lockers, and parents’ homes. Things we tell ourselves will someday have value if we just wait long enough. Every pathology department has things too—the glass slides and paraffin blocks of specimens long since diagnosed and discarded, all tucked away in the far recesses of hospitals and storage warehouses, waiting for a time to reach their full potential. A select few of these even manage to be resurrected each year, some for a retrospective analysis of one marker or another, others to settle a diagnostic or medicolegal matter. Most, however, sit idly in file cabinets and storage facilities, out of sight and largely forgotten, reminiscent of the final scene in Raiders of the Lost Ark. See Article by Baudhuin et al Those materials, however, still have great value. Among pathologists, this is not exactly a secret—archived slides and blocks have long been appropriated for developing new stains, defining diagnoses, and understanding disease pathogenesis. And when modern genetic testing methods arrived, many had visions of Jurassic Park-style moments, unlocking the secrets embedded not in amber but in paraffin. Unfortunately, most of the promise of such materials has languished. Genetic testing methods to date have largely focused on peripheral blood and carefully preserved tissues gathered from living patients. Applying the same techniques to the stuff …