Rapid whole genome (🧬) sequencing (rWGS) is one of the most exciting (and benevolent) collisions of #AI and #genomics I can think of.
rWGS can diagnose a critically ill child in minutes where previously it took years.
illumina.com/company/news-c…
A few years ago, Illumina ($ILMN) and Rady Children's Hospital (@RadyGenomics) collaborated to offer sequencing services for diagnosing critically-ill infants and toddlers.
Roughly 70% of rare diseases are genetic and they can take five years to diagnose.
As sequencing costs dropped and #AI got faster, this collaboration became Project Baby Bear: a pilot study for rWGS's diagnostic yield, clinical utility, and health economics in practice.
Several innovative companies joined Rady's in creating a rapid diagnostic pipeline.
@Clinithink contributed a natural language processing (#NLP) system to scour medical literature and the patient's EHR. Traditionally, this process would be carried out manually.
clinithink.com/life-science
Genomic data would be fed to Diploid's (@diploidgenomics) AI-engine, MOON, which can suggest a causal #DNA variant out of ~45 million in just about five minutes.
This result would be verified on Fabric Enterprise; software by @FabricGenomics.
diploid.com/moon
After the pilot, Rady's rWGS was covered by Blue Shield of California (~$5,000).
Resurfacing, @ARKInvest believes #AI-accelerated #genomic diagnostics should be less expensive and more accessible in local hospitals. You shouldn't need to travel to receive the best care.
So, where can we go from here?
A 2019 @AJHGNews article noted that the rare disease solve rate was <50% when using short read rWGS. The authors argued this rate could increase on long read systems given their ability to decipher hard-to-read variants.
nature.com/articles/s1003…
For visual learners, @PacBio has a webinar on this topic (tinyurl.com/y3ly77hg).
Interestingly, Pacific Biosciences and Leiden University (@LUMC_Leiden), another hospital using Diploid's MOON, have a long-read/diagnostic summit series called SMRT Leiden.
Earlier this year, Invitae (@Invitae) acquired Diploid to (a) accelerate and lower the cost of its whole exome/genome services and (b) to democratize access to MOON for children's hospitals of all sizes.
ir.invitae.com/news-and-event…
Given the lower CapEx of PacBio sequencers and cost-declines associated w/ compute, we think some centers could profitably integrate decentralized long-read rWGS services, analyzable over the cloud w/ MOON.
Others have the flexibility to send samples to Invitae's central lab.
Moreover, we think Invitae's integration of genetic counseling AI / clinical workflow management tools (@cleargenetics), investments in telemedicine integration, and focus on rationalizing price, could galvanize rWGS adoption.
ir.invitae.com/news-and-event…
Altogether, rWGS is one of the most benevolent, impactful collisions of different areas of innovation and collaboration among various companies. #NGS #AI
Other Source(s):
radygenomics.org/tag/illumina/
blog.diploid.com
programs.pacificbiosciences.com/l/1652/2020-04…
healthcarefinancenews.com/news/blue-shie…
NOTE:
A lab/hospital using PacBio, or another long-read platform, would need an LDT/certification to use such a system for diagnostic purposes as none currently are FDA cleared/CE-marked for diagnostic purposes.
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