Progress in human genomics is often hidden from view. Eric Green gives some great general pointers, but here are more concrete applications: - NIPT vendors (Na

Progress in human genomics is often hidden from view. Eric Green gives some great general pointers, but here are more concrete applications: - NIPT vendors (Natera, Ariosa (Roche), Verinata (Illumina), Sequenom (LabCorp) and others) have successfully commercialized carrier and prenatal screening for severe genetic defects. - CareDx has commercialized pre- and post-screening for organ transplant rejection. - Invitae, Color, Foundation (Roche) and others are scaling genetic testing, specifically clinical exome and panel sequencing (and solving the reimbursement problem in the process, by amortizing the cost of sequencing a patient's DNA across multiple physician-requested tests). Because variants need to be understood by physicians, this also enabled public/private data sharing partnerships for variant characterization (ClinVar). - Grail (Illumina), Natera and others are on the verge of commercializing routine cfDNA cancer screening. And here are more fundamental improvements which may yield more successes like the above: - Oxford Nanopore has provided much needed competition to Illumina in lowering the barrier to portable sequencing and de novo whole genome sequencing. - The ENCODE project has used ever more sophisticated assays to characterize functional regions of the genome. - 10x Genomics has scaled and productized new ways to do single-cell transcriptomics, enabling breakthroughs in understanding functions of genes (by mapping differences in their expression across cell types and conditions) as well as development of CAR-T cell therapies (training and selecting the patient's own immune cells to fight cancer). - UK Biobank has provided privacy-preserving access to a large cohort of annotated genomic data from the NHS, enabling more powerful association studies between genes and disease. One of the bigger balancing acts in this industry is the monopolistic tendency of Illumina, Roche, and a few other big players to buy everyone up. This has clear anti-competitive effects but also incentivizes a lot of startups looking for that exit.