The myth of the $100 genome

One of the biggest disappointments in the 'cost of a genome' discussion is that despite reducing costs, access to genome sequencing for disease diagnosis is very hard to come by outside of an academic medical center.

First it was the $1,000 genome, then we got a $500 genome on the NovaSeq, now it's ~$200 on the Xplus and Aviti with a sub $100 genome on the DNBSEQ-T20.

The problem is these numbers mean basically nothing to the vast majority of patients waiting to get a diagnosis.

Why?

Well, for one, that number doesn't include the cost of labor, analysis, or interpretation.

In the best case, for a clinical workup of a singleton (the affected individual), we're looking at $50 for sample collection, DNA extraction, library prep, and labor; $100-200 for sequencing; and then between $300 and many thousands of dollars for analysis/interpretation.

If you're doing trios (Mom, Dad, affected individual), you can basically triple those costs.

So even in the best case scenario, we're talking ~ $400, and that's just Cost of Goods Sold (COGS) without adding in any profit.

If you're doing this with a major non-profit, it's ~$9,000 for a trio, but that includes case review by a world class clinical team.

It's likely that equivalent quality can be had for much less, and the future integration of AI and other emerging methods should make these prices more palatable to insurance companies.

And that's what I'm most excited about:

The $0 genome.

Because these $9,000 clinical workups are generating the evidence needed to get insurance companies to pay for them.

My hope is that the majority of payers will finally wake up and say, "Maybe it doesn't make sense for these kids and families to wait a decade for a diagnosis?"

We're starting to see some of this already in more progressive states where they're funding rapid neonatal sequencing programs for very sick kids - California, Michigan, Oregon, Maryland, Minnesota, and others.

But many of these programs have pre-authorization requirements that restrict access to this much needed testing.

Even UnitedHealthcare announced this year that it was going to cover sequencing but only when a genetic cause is suspected and presentation includes any of the following: "multiple congenital anomalies (must affect different organ systems); moderate, severe, or profound intellectual disability diagnosed by 18 years of age; or global developmental delay, or epileptic encephalopathy with onset before 3 years of age."

This is progress but coverage restrictions like these mean a major swath of the population that are affected by late onset genetic disease, and who could benefit from a genetic diagnosis, will be missed.

Unfortunately, there's still work to do, and that includes expanding coverage to carrier, inherited disease, and risk factor screening in healthy people.