For a number of years, I have speculated about one of the dilemmas of routine lab testing as compared to whole genome sequencing (WGS). This latter is the process of determining the complete DNA sequence of one's genome at a single time. The value of, say, a serum sodium is transient and dependent on the patho-physiological status of the patient. The value is reported by labs normally only accompanied by the reference range. Further interpretation is left to the test-ordering physician.
In the case of WGS, the result is theoretically relevant for the life of the patient but the analysis and interpretadtion of the DNA changes frequently as new research is reported about DNA patterns and the consequences of DNA "mistakes". How then should a lab report WGS results initially and how should it be reimbursed for subsequent reports? A recent article addressed this question in relationship to Helix (see: HELIX’S BOLD PLAN TO BE YOUR ONE STOP PERSONAL GENOMICS SHOP). Below is an excerpt from the article:
In 2015, Helix spun out of San Diego-based Illumina, the $20 billion genomics giant whose supercomputers sequence about 90 percent of the world’s DNA data. Its goal? To take the sequencing tech used by researchers and doctors and open it up to consumers in a digital marketplace built on DNA....[The company recently launched a new] platform—a smorgasbord of 18 products designed to turn a one-time genetic donation into a lifetime of insights....Every product on Helix’s marketplace will draw from the same DNA sample, which the company will sequence, store securely, and offer up through an API....For consumers, that means they can sequence once with the potential to purchase a lifetime of dynamic discoveries. The key word there is dynamic: The marketplace’s offerings will expand as genetic insights improve. Its initial products, like other consumer tests, are constrained by the current state of research....
Here’s how the Helix platform works: Eighty bucks and a spit sample gets you a spot on one of Helix’s sequencing machines, and a chunk of cloud storage for the protein-coding region of your genome—about 22,000 genes, otherwise known as the exome. Normally that would cost somewhere between $500 and $1,000. More commonly, consumer genetic tests use a technology called genotyping to report on certain genetic sites, but even those cost $100 to $250. So comparatively, Helix’s base sequencing fee is a real bargain. But once you’ve gained access to the marketplace, it’s a pay-as-you-go buffet of personal genomics lifestyle products....Eric Topol, a geneticist at Scripps Research Institute and a leader in the US’s most ambitious public sequencing project—the Precision Medicine Initiative—says Helix’s low cost of whole exome sequencing is indeed an impressive achievement. But because you can’t download all your raw data, the price is essentially an illusion, meant to hook people more than return meaningful results.
Helix's business model makes a certain amount of sense, at least for the present. The consumer is providing an incredibly valuable asset to the company so the initial DNA analysis is cheap and probably subsidized to some extent. Presumably, Helix will sell access to this DNA data to various healthcare companies like pharma's, presumably anonymized. In addition, Helix will also sell specialized, "lifestyle" reports to the consumers whose DNA data they are holding. Where we probably need to end up regarding WGS data is for it to be generated and stored by a non-profit or governmental agency that would provide services to a broad swath of the population at little of no cost. However, it's not clear that the government would be able to mount such a broad effort compared to Helix. Perhaps the Precision Medicine Initiative referred to above can expand to offer such services. New "DNA analysis" companies then might emerge, offering low-cost interpretation of data held by the non-profit in the cloud. Unfortunately and with the growing problem of computer hacking, all such enterprises would offer a tempting target. In short, I am not sure whether any non-profit competitors to Helix will arise, at least in the short-term.
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