In a new report reinterpreting clinical genomic epilepsy test results, about a third of patients had variants reclassified. This led to a clinically significant change in the interpretation in a third of that cohort.
Investigators from the University of Texas Southwestern Medical Center retrospectively reviewed 309 pediatric epilepsy screenings in order to examine the value of reinterpreting previously reported genomic test results. The patients underwent genomic epilepsy testing at a single tertiary care pediatric health care facility between July 2012 and August 2015. The investigators wondered how often genomic test result interpretations change, and so the reinterpretation took place in May 2017.
Genomic testing is used to judge several pediatric neurological diseases, the study authors said. While recent studies have focused on the discovery and identification of new disease relationships using the genomic data, only a few studies have looked into the scope of re-analysis to include all the gene variants of previously reported conditions.
Park said that physicians should consider asking laboratories to reinterpret previously reported genetic test results in a few scenarios, such as:
- when a period of 13 years has elapsed from the initially reported results;
- when they are considering making changes to a patient’s medication or other therapies;
- when they are considering ordering further genetic testing.