The hottest Diagnostics Substack posts right now

And their main takeaways
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Top Science Topics

The Missing CHIP

Ground Truths • 8223 implied HN points • 15 Mar 26
🔬 Science Diagnostics
  1. CHIP (clonal hematopoiesis) is a common, age-related blood stem cell change that meaningfully raises risk for heart disease, blood cancers, clots, and inflammatory problems, with risk depending on clone size and the specific mutated gene.
  2. New research shows CHIP is actionable: drugs like low‑dose colchicine, IL‑1β blockers, inflammasome inhibitors, and other agents can reduce CHIP or its downstream risks, and genetic discoveries point to future prevention strategies.
  3. Testing for CHIP is highly informative but currently limited by high cost, complex deep‑sequencing methods, and slow guideline uptake, so cheaper targeted assays and more clinical programs could enable screening and early prevention for older adults.

The Flawed V02 Max Craze

Ground Truths • 14084 implied HN points • 23 Feb 26
🏥 Health & Wellness Diagnostics
  1. Cardiorespiratory fitness (CRF) and VO2max are not the same: CRF is estimated in METs from real-world or treadmill tests, while true VO2max requires a lab gas-exchange test and smartwatch VO2 estimates are indirect and often inaccurate.
  2. Nearly all the evidence linking fitness to lower all-cause and cardiovascular mortality is based on CRF/METs, with about a 14–15% reduction in mortality risk per 1-MET improvement, not on wearable or routinely measured VO2max.
  3. For most people, don’t obsess over smartwatch VO2 numbers; prioritize increasing real-world activity, improving METs and muscle strength, and reserve lab VO2max testing for elite athletes or specific clinical cases, since AI and apps can amplify misleading wearable data.

Why All Mammograms Should Incorporate A.I.

Ground Truths • 8135 implied HN points • 08 Feb 26
🏥 Health & Wellness Diagnostics
  1. AI makes mammogram reading more accurate and finds more cancers earlier, including smaller and aggressive tumors. It also significantly reduces radiologists' screening workload.
  2. AI can predict five-year breast cancer risk from a standard mammogram, letting clinicians target high-risk women for closer surveillance or preventive testing like MRI or genetic workups.
  3. AI can identify breast arterial calcification on mammograms, which signals higher heart disease risk and lets mammography serve as a two-for-one screen for cancer and cardiovascular risk.

The Nurse Told Me I Had Gout. Then I Sent Feet Pics to ChatGPT.

Common Sense with Bari Weiss • 871 implied HN points • 11 Feb 26
🕹 Technology Diagnostics
  1. Large language models can sometimes diagnose medical problems quickly and accurately, and studies show they can even outperform doctors in some cases.
  2. When telehealth or doctor access is slow or unsatisfying, people may turn to AI—sharing photos and getting fast, actionable guidance that can change what they do.
  3. Using AI for health advice highlights real benefits but also raises safety and accountability worries, since wrong or unverified guidance can be risky.

Countable Labs

ASeq Newsletter • 14 implied HN points • 19 Mar 26
🔬 Science Diagnostics
  1. Countable Labs is building a novel PCR instrument that acts like digital PCR but runs inside a single tube.
  2. Their method seems to isolate individual molecules in a gel, amplify them, and image the fluorescence directly in the tube to enable multiplexed detection.
  3. Public details are limited, so people are looking through patents to understand the technical specifics.
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WHAT YOUR COVID BOOSTER DID TO YOUR IMMUNE SYSTEM

Who is Robert Malone • 26 implied HN points • 17 Mar 26
🏥 Health & Wellness Diagnostics
  1. Repeated mRNA COVID boosters shift the antibody response toward IgG4, which can bind the virus but lacks Fc-mediated functions (like ADCC and complement) and is linked to reduced infected-cell clearance and more breakthrough infections.
  2. This IgG4 shift is driven locally in lymph nodes by IL-10, becomes long-lasting because IgG4-producing plasma cells persist, and is amplified by closely spaced boosters and the prolonged lymph-node activity of mRNA-LNP vaccines; children can show the effect after only two doses.
  3. Standard total-IgG tests cannot detect this problem, so clinicians and regulators should measure IgG subclasses, space boosters at least a year, re-evaluate pediatric booster policies, inform patients of the trade-offs, and start targeted surveillance studies.

Signal Biosciences

ASeq Newsletter • 21 implied HN points • 17 Mar 26
🔬 Science Diagnostics
  1. They’re building a high-plex PCR approach that runs on standard qPCR and dPCR machines, already showing up to 15 targets in dPCR and a 7‑target qPCR prototype, with aims of roughly 50 and 40 targets respectively.
  2. The key idea is to move fluorescent signal generation out of the genomic amplification and into a parallel isothermal secondary reaction; probe cleavage during PCR produces a cleaved tail that triggers separate signal‑generating chemistries, effectively acting like a barcode.
  3. By decoupling signal chemistry from amplification and pooling fluorophores separately, the method could let developers multiplex many targets in a single reaction without needing specialized instrumentation.

Ideas for Biotechnology BBNs

FreakTakes • 26 implied HN points • 13 Mar 26
🔬 Science Diagnostics
  1. Flowers by Design: engineer new flower traits across many species to make beautiful, bespoke plants and to uncover general principles of plant development that can translate to food crops.
  2. Biosensor for Anything: build a platform of protein or cell-based sensors plus large datasets and predictive models so we can cheaply and reliably detect many molecules and signals in real-world samples.
  3. Proteins for Pennies: develop a fast, low-cost protein fabricator or "printer" to make any protein for pennies, cutting testing costs and enabling cheaper therapeutics and faster AI-driven design.

Your Allergies Are Probably Fake

Cremieux Recueil • 573 implied HN points • 04 Feb 26
🏥 Health & Wellness Diagnostics
  1. Many people are labeled allergic to drugs they aren’t actually allergic to — penicillin is a common example where most recorded allergies are likely wrong.
  2. False allergy labels cause worse care, higher costs, more drug-resistant infections, and longer hospital stays because clinicians avoid preferred medicines.
  3. Most suspected drug allergies can be safely checked and removed with supervised testing (direct oral challenges), so getting evaluated by an allergist can let you use better treatments and help public health.

When Doctors With A.I. Are Outperformed by A.I. Alone

Ground Truths • 10935 implied HN points • 02 Feb 25
🏥 Health & Wellness Diagnostics
  1. A.I. is often outperforming doctors in diagnosing medical conditions, even when doctors use A.I. as a tool. This means A.I. can sometimes make better decisions without human involvement.
  2. Doctors might not always trust A.I. and often stick to their own judgment even if A.I. gives correct information, leading to less accurate diagnoses.
  3. Instead of having doctors and A.I. work on every case together, we should find specific tasks for each. A.I. can handle simple cases, allowing doctors to focus on more complex problems where their experience is vital.

Microsoft AI CEO Mustafa Suleyman: Why Our AI Diagnostician Outperforms Doctors

Big Technology • 3878 implied HN points • 03 Jul 25
🕹 Technology Diagnostics
  1. Microsoft's AI diagnostician, MAI-DxO, is significantly more accurate than human doctors, solving 85.5% of complex cases compared to only 20% by humans. This shows how advanced AI can assist in medical diagnoses.
  2. The AI system uses multiple bots to analyze a patient's medical history and ask questions, enhancing the quality of its responses and accuracy. This cooperation between bots leads to better diagnosis than just using one model alone.
  3. As AI becomes more common in healthcare, it's important for doctors to understand and not rely solely on AI for decision-making. There may be challenges if doctors become too dependent on AI tools.

The First Diagnostic Immunome

Ground Truths • 7960 implied HN points • 22 Feb 25
🏥 Health Politics Diagnostics
  1. Sequencing B and T cell receptors can help diagnose autoimmune diseases. This kind of testing is much faster and could lead to more accurate diagnoses.
  2. Using machine learning and AI makes analyzing the complex data from these receptors easier. The technology can find patterns and help doctors understand patients' conditions better.
  3. In the future, a full immunome could be a standard test to check how well someone's immune system is working. This could help prevent diseases before they become serious.

Roche SBX Interest High, Workflow Questions

ASeq Newsletter • 21 implied HN points • 03 Mar 26
🕹 Technology Diagnostics
  1. Interest in Roche’s Axelios sequencer is high and early reactions to AGBT pricing look positive.
  2. If those early responses hold, about 58% of NovaSeq X sales could shift to Axelios, roughly 150 units based on 2025 Illumina numbers.
  3. That level of market shift is probably unrealistic, so real-world impact is uncertain and likely smaller.

Solid State Nanopores - Cambridge Nucleomics!

ASeq Newsletter • 7 implied HN points • 12 Mar 26
🔬 Science Diagnostics
  1. A Cambridge-based solid-state nanopore company founded around 2021 recently closed a $736K seed round.
  2. Their method hybridizes barcodes with bulky loops to RNA or DNA and threads them through a solid-state nanopore. Varying the loop patterns or spacing creates distinct labels that can be counted.
  3. They’re targeting clinical counting applications such as point-of-care sepsis tests, early cancer detection, and minimal residual disease monitoring.

Syndex Bio/Ultima

ASeq Newsletter • 21 implied HN points • 24 Feb 26
🔬 Science Diagnostics
  1. Syndex Bio’s mcPCR can copy both DNA sequence and methylation marks during amplification, effectively enabling ‘PCR for methylation’. This should improve testing of small or non‑invasive oncology samples for earlier detection and recurrence monitoring.
  2. Ultima Genomics launched a cheaper (~$850K) second instrument (ug200) that removes a separate ePCR step and doubles output per wafer, boosting throughput and lowering cost. It still appears bead‑based on unpatterned wafers, which suggests there’s further density headroom if they optimize wafer/flowcell design.
  3. The bigger risk for Ultima is commercial: they need to find enough customers to absorb the massive throughput and drive the hyper‑elastic growth required for the business to survive. Capacity and performance may be strong, but market adoption is the key bottleneck.

Why No Japanese Sequencing Companies?

ASeq Newsletter • 36 implied HN points • 03 Feb 26
🕹 Technology Diagnostics
  1. Japan has deep expertise and built many key components for sequencing — from contributions to the Human Genome Project to ISFET sensing and imaging sensors — yet it has produced almost no homegrown DNA or protein sequencing companies.
  2. Possible reasons include a lack of strong domestic genome centers and expert customers, structural problems with the startup ecosystem, and past institutional missteps that discouraged local product development.
  3. The shift toward clinical, sample-to-answer sequencing and the still-open field of protein sequencing are clear opportunities Japan could exploit with its research and manufacturing strengths, and funding startups would build domestic talent and capability even if many ventures fail.

NanoDx

ASeq Newsletter • 43 implied HN points • 26 Jan 26
🕹 Technology Diagnostics
  1. Nano Diagnostics started around 2010 as Biodirection and originally pursued a nanowire-based approach aimed at point-of-care concussion detection.
  2. Improved biomarkers and competitors like Abbott now offer fast immunoassay TBI tests (cleared in 2023), making the concussion diagnostics market tougher for NanoDx.
  3. Recent patents and company signals suggest NanoDx has moved away from its original nanowire focus and is emphasizing SARS-CoV-2 diagnostics, reflecting a broader industry shift away from nanowire approaches.

Sequencers From Singapore? No. But Interesting!

ASeq Newsletter • 14 implied HN points • 12 Feb 26
🕹 Technology Diagnostics
  1. AITBioTech is selling a small DNA sequencer (ABSEQ) with iSeq/MiSeq-level specs, but it appears to be a rebranded DNBSeq device using the same luminescence-based chemistry.
  2. Their qPCR system also looks like an OEM product from Taiwanese manufacturers, indicating the company rebrands existing instruments rather than building wholly new hardware.
  3. Rebranding and OEM sourcing is common in the sequencing industry, and while OEMs could eventually offer customized, integrated instruments for clients, that kind of tailored integration probably isn’t imminent.

Epstein Unfortunateness. HYP-FREE - A Hypothesis Free Testing Initiative

ASeq Newsletter • 14 implied HN points • 05 Feb 26
🕹 Technology Diagnostics
  1. Build sample-to-answer DNA and protein sequencers for hypothesis-free diagnostics so clinics can detect known and novel pathogens or biomarkers without guessing, ideally at qPCR-like cost.
  2. Japan is well positioned to lead this effort because it has strong manufacturing and technical capabilities but currently lacks domestic DNA or protein sequencing platform companies, creating a strategic market opportunity.
  3. Use an SBIR-style, commercialization-first program to fund and spin out startups, prioritize simplified sample prep and advanced sequencing (long reads, protein), and engage investors early to scale devices for global clinical use.

BioFire SpotFire

ASeq Newsletter • 7 implied HN points • 19 Feb 26
🔬 Science Diagnostics
  1. The SpotFire stood out among sample-to-answer qPCR machines.
  2. It appears to use the same two-stage amplification process as the FilmArray.
  3. It shortens time to result from about 45 minutes to around 15 minutes.

A Sample-to-Answer DNA Sequencer (FLP-L50)

ASeq Newsletter • 7 implied HN points • 17 Feb 26
🕹 Technology Diagnostics
  1. The MGI FLP-L50 is a highly integrated sample-to-answer DNA sequencer that combines many steps into one device.
  2. It takes a different approach from other sample-to-answer sequencers previously discussed, offering a unique level of integration.
  3. The instrument reportedly has strong sales in China, suggesting commercial traction in that market.

DynaPore

ASeq Newsletter • 14 implied HN points • 23 Jan 26
🕹 Technology Diagnostics
  1. DynaPore has a new sensor concept that embeds conformation effect transistor (CET) channel proteins in insulating membranes; when a target molecule binds the channel opens and instantly changes the electrical current, producing a measurable signal on a portable device.
  2. The CET platform can be customized with specific binding modules like antibodies to detect a wide variety of biomarkers or pathogens, drawing inspiration from how natural smell systems work.
  3. The company is a Max Planck Institute spinout that filed a patent with a May 2024 priority date and appears to be actively hiring.

Year In Review: Sequencing

ASeq Newsletter • 21 implied HN points • 30 Dec 25
🕹 Technology Diagnostics
  1. Roche unexpectedly brought a high‑throughput nanopore sequencer that looks competitive with Illumina on throughput, quality, and cost, implying single‑molecule sequencing could reshape the market.
  2. Oxford Nanopore faces leadership change and financial pressure after massive investment, and growing competition (including Chinese clones and Roche) threatens its hard‑won nanopore lead.
  3. Illumina remains the largest player but is showing flat revenue and shifting toward clinical markets, while PacBio—despite leading on long‑read quality—struggles with limited adoption and a small market.

Element's Progress At JPM

ASeq Newsletter • 14 implied HN points • 13 Jan 26
💼 Business Diagnostics
  1. Revenue grew to $85M in 2025, roughly 40% higher than the prior year. Despite that growth, the company likely still runs large losses and burns over $100M a year.
  2. The install base expanded to 450 systems (up 60%) and consumable shipments doubled, signaling stronger customer adoption. About 35% of new shipments are multi‑omics Aviti24s, so customers are taking the multi‑omics option.
  3. The product roadmap includes an IVD‑certified Aviti, a higher‑throughput benchtop instrument targeting $100 genomes, and multiomic workflows for FFPE and fresh frozen samples. These product moves could broaden the company’s addressable markets from diagnostics to high‑throughput genomics.

DNAe Early Access Update

ASeq Newsletter • 14 implied HN points • 19 Dec 25
🕹 Technology Diagnostics
  1. Sam Reed from DNAe publicly commented on earlier coverage, and the coverage was updated to reflect those comments.
  2. DNAe's news posts include posters that show an instrument different from the one on the official website, suggesting either a new model or inconsistent imagery.
  3. The full update is behind a paywall, so readers must subscribe or sign in to read the paid content.