St. Jude redefines diagnostic ‘gold standard’

Recent St. Jude findings suggest that whole-genome sequencing should be used for all children with cancer.

This process involves determining the exact order, or sequence, of the 3 billion chemical bases that make up human DNA.

The method isn’t widely used because of cost and time constraints.

Most pathology departments that issue sequencing results look at only a panel of several hundred genes. That approach can miss many important mutations. More advanced institutions may look only at the whole exome and whole transcriptome. The exome encodes instructions for assembling proteins. The transcriptome identifies the genes that are expressed. Together, those two methods can find 78 percent of cancer-causing mutations.

But when St. Jude researchers combined whole-genome sequencing with those two approaches, 99 percent of mutations were identified.

Whole-genome testing is now offered to every new St. Jude cancer patient.

Scientists shared these findings in the journal Nature Communications. Data from the study are also available in St. Jude Cloud’s PeCan portal.

Read the news release.