Genetics Statistics: Sequencing Scales, Clinical Uptake, and the $100 Genome Race

Genetics by the Numbers: A Sector Defined by Data

The economics of genetics are increasingly quantifiable. The global genomics market was valued at roughly $28–30 billion in 2023 and is projected to grow at a mid-teens CAGR through 2030, driven by sequencing volume, cloud analytics, and clinical use cases, according to industry analysts at Grand View Research. Leaders across the stack—companies such as Illumina, Thermo Fisher Scientific, and Roche—are orienting product roadmaps around a singular statistic: cost per interpretably accurate genome.

Behind that headline figure sits an avalanche of data. The National Human Genome Research Institute’s tracker shows the cost to generate a human genome falling from about $100 million in 2001 to well below $1,000 today, outpacing Moore’s Law by orders of magnitude, NHGRI data show. That cost curve is now the keystone metric for everything from research biobanks to oncology diagnostics, shaping procurement, reimbursement, and the pace of translational science.

Sequencing Economics and Throughput

Throughput and price are converging on a new baseline. Illumina says its NovaSeq X systems can deliver multi-fold gains in reads per run and push whole-genome reagent costs toward the low hundreds of dollars, part of a design targeting tens of thousands of 30x genomes per year per instrument, according to the NovaSeq X platform specifications. Meanwhile, the startup Ultima Genomics claimed a $100 genome in 2022, a milestone that, if broadly validated, would reset cost models across population genetics and rare disease programs, as reported by Nature.

Scale is no longer a theoretical constraint. The UK Biobank’s whole-genome sequencing resource now spans approximately 500,000 participants—linking genetic data to longitudinal health records and imaging in what is effectively a statistical engine for discovery. In parallel, the Regeneron...