Skip to main content
Premium Trial:

Request an Annual Quote

Shifting Sands of Gene Variant Interpretation

As researchers and clinicians learn more about different genetic variants and their links to disease, parents like Hillary Savoie have to cope with changes in diagnosis for their children with genetic conditions, the Wall Street Journal reports.

The Journal writes that Savoie's daughter Esmé was born with seizures and other issues, and though initial rounds of genetic testing that targeted particular genes and then a microarray panel didn't uncover anything, later wider testing of seizure-linked genes noted a variant in PCDH19. But Esmé's symptoms didn't quite match those of other children with variants in that gene and exome sequencing instead implicated a variant in SCN8, it adds. Then, a new interpretation of that exome data downgraded Esmé's SCN8 variant and noted additional pathogenic or likely pathogenic variants in two other genes.

This, the Journal reports, was wrenching for the Savoies as they had thrown themselves into these disease communities, built ties there, and worked to raise research funds for those gene variants.

"I tell all the families," Boston Children's Hospital's Annapurna Poduri says at the Journal, "this is what we know now, but it is going to change."