The researchers designed a transcriptome sequencing assay that identifies clinically relevant gene fusions in 541 genes.
Researchers from the French Parkinson's and Movement Disorders Consortium evaluated the diagnostic yield and cost of a 127-gene panel on nearly 400 patients.
The team demonstrated that the approach can yield high sensitivity while maintaining near-perfect specificity, but it must now replicate the early results in a much larger study.
Fifteen years after the Human Genome Project was declared completed, genomic medicine is beginning to be implemented, sooner than Green and others had expected.
A new trial has compared the two most prominent tests, showing that both have clear predictive ability, but leaving several other questions unanswered so far.