March 17, 2016 | A lawsuit filed against Quest Diagnostics subsidiary Athena Diagnostics could have far reaching repercussions for the diagnostics testing industry. In 2008, a two-year-old boy died of a seizure. Athena had returned genetic testing results for the boy the previous year, characterizing a mutation in the SCN1A gene as a variant of unknown significance. In 2015, Athena sent an updated report marking the mutation as disease-causing.
Now the boy’s mother is suing, claiming—among other things—that there was sufficient evidence in 2007 to have classified the mutation as disease-causing, and if it had been, the boy would have been treated differently and not died. In addition, the suit charges that Athena's failure to provide additional information to support this variant reclassification is one of many violations of the Clinical Laboratory Improvement Amendments
If the case proceeds, a jury will have to decide whether there was sufficient evidence in the literature in 2007 for Athena to determine a pathogenic link between the boy's mutation and disease. The decision would set industry-changing precedent.
Turna Ray, at GenomeWeb, has the full story.