Genomics Cow

#Genomics on social media is mainstream. Kinda boring. Don't follow the herd

@MariosGeorgakis Even then, this is hard. Not unlike DTC tests explained below, PRS’ are faced with a “add-more-cost or risk-leaving-patients-out” proposal

@MariosGeorgakis You make good points PRS advocates have to remember - Don’t boil the ocean - Start where there is a scaffold for uptake: where there are already screening pathways like you indicated

my thoughts on why integrating polygenic risk scores into clinical research is the only realistic path toward clinical implementation open.substack.com/pub/thecodon/p…

@ealarkin7 Oftentimes reporting all sorts of things creates the diagnostic odyssey But i get that your target patient/physician population is different

Something we think about a lot at Valius is what we call the "measured versus reported" gap. Put simply: how much did the diagnostic measure, and how much of that did they actually report back to the patient and their physician? This gap is shockingly large. We've seen multi-month processes for patients to get their data from big diagnostics vendors. Weeks to respond to simple questions like HLA typing or expression levels for a single gene. We believe that with abundant AI, this gap should approximate to zero, since there is now on-demand intelligence to aid in interpretation. Below is a screenshot comparison of the exact same test type (whole transcriptome RNA sequencing) performed by a traditional diagnostics vendor versus Valius. Same sample from the same brain tumor patient. The vendor's report only discusses fusions and rearrangements, of which they found none. Despite measuring (and marketing) whole transcriptome, they didn't include anything else. ~20,000 genes measured. Almost nothing reported. That is a large gap, which I don't think can be justified via the usual excuses (clinical validity, CLIA, etc) Indeed, we think there were actually quite a few interesting things in this patient's case. High B7-H3 expression. High IL13RA2 expression. High MET expression. For patients without easy answers, this information can be critically important for determining next steps (e.g., what protein markers to stain for, what trials to consider). The incumbent diagnostics companies grew up a long time ago, before we had intelligence on-demand. You can imagine a world where, if the patient consents, AI has access to everything from the raw FASTQs to the cleaned, integrated CLIA output, and can answer any query the patient or their care team has. AI is not able to do this super reliably today, but honestly, even with modestly good AI, I think defaulting to this would be better than the defaulting to nothing. Anyway, this is a big part of why we think Valius is a uniquely exciting company to build now. The measured versus reported gap should approximate to zero, and we're going to make sure it happens.

Clinician: I don’t read papers. Is it in clinical guidelines? PI: what peer-reviewed journal is it in? I only read preprints if I’m an author Vendor marketing: Here’s our white paper. But if you want a deep dive on validation here’s the biorxiv link 🐮

If companies ever develop a successful medical DTC that isn’t part of standard testing They’ll get shut down or shunned anyway Leave the naive work to the tech bros impatient to get things done

@OmicsOmicsBlog "I just want stuff moved, spare me the details" 😂 I wonder why Tecan and Hamilton couldn't be more similar though, given their proximity and higher likelihood their staff have higher chances of working in both

The Simulator That Isn't There Ruminations on how automation open source world is very less populated than genomics open source world

If you want to do DTC ... Get someone else to take on the risk Look for tech bro's, ppl with access to funding to waste, they talk with language like "digital twin" and "AI". If they succeed, sell them the tools. If they don't, make sure they pay their outstanding invoices! 🐄

Your test could cost more money by screening ppl earlier (to save 💰 later), but this isn't an easy argument to attain reimbursement for

Life science tool shows diagnostic potential! So let's do a direct-to-consumer medical test! You can't seriously do DTC until . . . 🧵 1/2 Your product could actually exist as a clinical test. You cannot expect to skip years of validation and expect a business to take off

@OmicsOmicsBlog Like the technology but sounds like the running before walking thing could be happening

Countable Raises Funds, Heads to Clinic 🖥️🧬

Customer: Hi sales rep, sorry we're not buying your product cos of application context, collaborations, the specs don't overlap our needs ......... (Later) Sales management: So why are we losing deals? Sales rep: Price 🐮

@The__Taybor @gbw42 Respect 🫡 Looking back, it all could have been so much more successful (not saying it wasn’t but I’m sure you envisioned more), but sometimes it doesn’t flow that way. And in this case, decentralization didn’t quite happen so quickly. One could never have known

When it was stupidly hot I had a go at writing up the story, or a personalized subset, of MinION - the tiny sequencer. linkedin.com/feed/update/ur…

My posts are Research Use Only

Hi I’m doing sales for xx please don’t go I bring value and listen more than talk I’m a problem solver and earn trust over years I’ve worked for 9 genomics companies over 8 years so my clients trust me if you need something done like chase your PO through just book a meeting…🐮

What PIs said: “these methods are complementary” What PIs mean: “I get results however I can”

@CatharineAquino @RocheSequencing Feels like last years’ news 🤪 Seriously though I wonder how many labs without ILMN will go Roche first. (And even if it’s 0, it mightn’t matter)

Finally, @RocheSequencing launched Axelios 1! reuters.com/legal/litigati…