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Seeking a Reason Why

Molecular autopsies can increasingly uncover why a loved one died suddenly, but they might not always bring clarity, the Atlantic reports.

Researchers led by Ali Torkamani from the Scripps Translational Science Institute have been working with medical examiners to see whether whole-exome sequencing of people who've died suddenly can pinpoint a genetic cause. As GenomeWeb has reported, Torkamani and his colleagues wrote in the Journal of the American Medical Association last week that such a molecular autopsy can uncover a likely or probable cause of death in about 40 percent of cases. However, the researchers limited their study to 25 individuals who were 45 years old or younger when they unexpectedly died between October 2014 and November 2015.

But, the Atlantic notes, that means that many cases are inconclusive, and as the effect of a mutation may vary from person to person, knowing a family member who died had a certain variant may not give any certainty to survivors regarding their own risk. Additionally, as researchers learn more about various variants, ones that were once thought to be pathogenic may turn out not to be.

"There's one thing worse than telling these families we don't have an answer," the Mayo Clinic's Michael Ackerman adds at the Atlantic, "and that one thing is telling them we have found the genetic cause when we in fact we have not."