The Current Bottleneck: Why Genomics is Hard to Scale

The cost of sequencing has dropped faster than Moore's Law, but the cost of diagnosis has remained stubbornly high. Why? Because the workflow is fragmented, manual, and prone to error.

The Manual Handoff Problem

In many labs, data moves from the sequencer to the bioinformatics pipeline via a USB drive or a manual drag-and-drop. Variant lists are exported to Excel. Reports are typed in Word. Every manual step is a potential point of failure.

The Interpretation Bottleneck

As we discussed in our Variant Classification series, interpretation is complex. But often, curators are wasting time on clerical tasks—copying HGVS nomenclature, looking up transcript IDs—rather than focusing on the biology.