The Molecular Autopsy: Not Ready Yet for Prime Time

Although I have always been a strong advocate for sophisticated molecular and genomic testing, I tend to get a severe case of indigestion when I see references to themolecular autopsy(see:Can Interest in the Molecular Autopsy Rekindle Interest in the Classic Autopsy?). First, let's start with an excerpt from a recent article on this particular topic which is presented below (see:When Genetic Autopsies Go Awry):Mayo Clinic doctor Michael Ackerman pioneered the so-called molecular autopsy in 1999, using a DNA test to explain the sudden death of a 19-year-old woman with a previously-undiagnosed inherited heart condition. Since then, sequencing DNA has become orders of magnitude cheaper and more sophisticated. With medical examiners considering DNA tests as part of autopsy reports, the molecular autopsy has raised new ethical concerns....Complicating it all is the fact that molecular autopsies —and DNA tests in general—too often come up inconclusive....Now, scientists have the ability to sequence every single human gene in one go, all 20,000 of them. Unfortunately, they don ’t know enough about all 20,000 genes to say if a specific mutation actually causes a deadly heart problem.A mutation in one gene might kill someone; a different mutation in the same gene might have no effect. Sometimes, even the same mutation in two people don ’t behave the same way....The National Association of Medical Examiners has recognized the potential value of molecular autopsies too...
Source: Lab Soft News - Category: Laboratory Medicine Authors: Tags: Clinical Lab Testing Genomic Testing Healthcare Innovations Lab Industry Trends Medicolegal Issues Source Type: blogs