Re-solving the unsolvable, 38% at a time.

The challenge

Helix Nordic runs one of the region's busiest rare-disease programs. Even with high-quality trio whole-genome sequencing, roughly six in ten cases with a strong clinical suspicion of a monogenic disorder came back unsolved. Many of the answers were hiding in places a DNA-only pipeline simply can't see: deep-intronic splice variants, regulatory changes, and methylation signatures.

Reanalysis — the practice of revisiting old cases as knowledge improves — was technically possible but operationally rare. Each rerun meant re-stitching tools by hand, so cold cases stayed cold.

The approach

With BeamMedic, every trio now flows through a single OmniFusion run that overlays genome, transcriptome and methylation. Aberrant splicing or expression seen in RNA can promote a genomic variant of uncertain significance to a confident diagnosis — and methylation classifiers add an orthogonal line of evidence.

• RNA evidence rescues VUS that DNA alone would leave ambiguous.
• Automated periodic reanalysis re-scores every open case as evidence improves.
• Data never leaves the national jurisdiction — federated, encrypted, fully logged.

The results

Across the first year, multi-omic fusion lifted diagnostic yield by 38 percentage points on previously unsolved trios — more than 640 families received a definitive answer. Median turnaround for a full trio dropped to about seven hours, and continuous reanalysis means the number keeps climbing as the literature grows.

• Cold-case reanalysis now runs automatically, not as a once-a-year project.
• Every diagnosis is traceable, reproducible and ready for clinical reporting.