Beyond the Genome: Five Emerging Leaders in Epigenetics Diagnostics

Epigenetics is increasingly powering cancer diagnostics and liquid biopsies. These emerging private companies are spurring the market with structural DNA, fragmentomics, and DNA methylation tests.

Our understanding of the role of epigenetics in disease is growing rapidly, driven by rapid advances in sequencing technology and computing.

Epigenetic processes such as DNA methylation, histone modifications, and non-coding RNA expression can interact with genomic changes to cause cancer. Therefore, diagnostics can detect early signs of disease by screening for these epigenetic signals.

Players including Illumina, Agilent Technologies, and Roche Diagnostics are leading the global market for epigenetic diagnostics, which is expected to swell by 15.5% per year from $17 billion in 2024 to $39 billion by 2030.

Growth is being driven by the increasing affordability of genome sequencing; the integration of AI tools in data analysis; growing investments; and soaring demand for liquid biopsies—noninvasive cancer tests based on blood and urine samples.

One of the first diagnostics with an epigenetic component to be approved by the U.S. Food and Drug Administration (FDA) was Exact Sciences’ (now part of Abbott Laboratories) ColoGuard® noninvasive stool test for colorectal cancer in 2014.

Since then, epigenetics diagnostics have already been generating M&A activity, with deals in the space including Cardio Diagnostics of the U.S. going public via a merger with special purpose acquisition company Mana Capital in 2022; the takeover of Ireland’s EpiCapture by compatriot Trinity Biotech in 2024; the 2023 acquisition of Germany’s Epigenomics AG by U.S.-based New Day Diagnostics; and U.S. Agilent’s acquisition of Avida Biomed, also in 2023.

There is also corporate venture interest with giants like Illumina Ventures, the Labcorp Venture Fund, and Lilly Asia Ventures making investments in small startups.

Check out below for our take on the most promising privately-owned players in the epigenetics diagnostics space, based on their investor attraction and market potential.

 

1. Arima Genomics

Founded: 2015 | Headquarters: Carlsbad, California

arima genomics logo

Arima Genomics was spun out of UC San Diego and developed research tools to pinpoint the 3D structure of DNA in cells.

However, the company pivoted to cancer diagnostics after its assay discovered vital clues on how to treat a teenage girl with glioblastoma in 2022.

Arima’s Hi-C technology involves locking the DNA structure in place via crosslinking. DNA strands are then cut with enzymes and labeled with a marker called biotin. Arima uses a process called proximity ligation to connect DNA strands that were physically close together into a single strand, and then sequences the resulting molecule.

Last year, Arima launched a lymphoma test that is delivered via the firm’s laboratory testing service, certified by the U.S. Clinical Laboratory Improvement Amendments (CLIA) program. The test is designed to be used to help patient management by discovering gene fusions and rearrangements for 417 genes in different types of lymphoma.

The test helps to fill in the gaps left by the gold standard, fluorescent in situ hybridization, which can be time- and resource-intensive and lead to conflicting results.

Arima raised $22 million in a Series C round led by Illumina Ventures in 2025 and appointed a former venture partner from Illumina Ventures as CEO. The firm is using the proceeds to launch a pipeline of clinical assays in cancer.

Arima also closed a partnership with Fox Chase Cancer Center earlier this year to co-develop diagnostic tests for lymphoma and sarcoma.

 

2. DELFI Diagnostics

Founded: 2019 | Headquarters: Baltimore, Maryland

Delfi logo

DELFI Diagnostics was founded on an “aha” moment at Johns Hopkins University School of Medicine when a group of researchers aimed to overcome the high costs and low sensitivity of traditional liquid biopsies.

The breakthrough involved hunting for the certain way cell-free DNA fragments appear in the blood. Healthy cells and cancer cells package their DNA in different patterns, reflecting changes in the cell’s genomic and epigenomic machinery.

Using this method of “fragmentomics,” DELFI’s technology can tap into orders of magnitude more data than traditional methods.

DELFI’s product FirstLook Lung uses artificial intelligence (AI) and fragmentomics technology to screen a blood sample for signs of lung cancer. It is designed as an adjunct tool to check whether patients are eligible for lung cancer screening, and is regulated under the CLIA program.

The startup’s other product, DELFI-Tumor Fraction (DELFI-TF), allows pharmaceutical companies to track the effectiveness of a cancer therapy based on a sample of less than one milliliter of plasma.

Delfi raised $5.5 million in a seed round when it was founded, with investors including Menlo Ventures and Illumina Ventures.

The startup subsequently raised a $100 million Series A round led by OrbiMed in 2021, a $225 million Series B round led by DFJ Growth in 2022, and a $34 million debt round last year.

 

3. Element Biosciences

Founded: 2017 | Headquarters: San Diego, California

Element Biosciences logo

Element Biosciences was co-founded by three former Illumina employees who dreamed of democratizing access to genomic sequencing.

The company markets devices designed to sequence genetic information at a lower cost and higher performance than traditional next-generation sequencing. These include AVITI™—its flagship benchtop sequencer—and AVITI24, which can simultaneously analyze DNA, RNA, proteins, and phosphorylated proteins.

The company generated $25 million in revenue in 2023, partly driven by orders of AVITI.

The technology, based on a process called Avidite Base Chemistry (ABC™), uses a dye-labeled polymer to bind genetic material and produce sequencing data with the need for fewer reagents than traditional sequencing.

Element is working with epigenetics specialists to boost their research offerings, including Dovetail Genomics and biomodal.

The company has also formed collaborations with diagnostics providers to enhance their offerings, including Revvity’s neonatal genetic tests and Medicover Genetics’ tests for hereditary cancers, metabolic and cardiovascular disorders, infertility, and neonatal diseases.

The company plans to market a clinical diagnostics-focused sequencing product called AVITI Dx, with EU approval expected this year in the form of a CE In Vitro Diagnostic (IVD) mark.

Element Biosciences has raised more than $680 million since it was founded, including a $277 million Series D round in 2024. The asset manager, Wellington Management, led the oversubscribed round, with participation from Samsung Electronics, Fidelity, and more.

This year, Element plans to commercialize a benchtop device, called VITARI, that can sequence a whole genome at high quality for just $100.

 

4. Nucleix

Founded: 2008 | Headquarters: Rehovot, Israel

Nucleix logo

Nucleix was initially founded to use epigenetics to trace falsified DNA in forensic investigations. Although the technology worked well, the management team decided to pivot to cancer screening.

Nucleix’s kits involve screening for specific cancer-linked DNA methylation patterns using polymerase chain reaction (PCR) tests.

The company also uses machine learning to construct biomarker panels best suited to the application of interest.

Nucleix’s Bladder EpiCheck® urine test is designed to detect the recurrence of bladder tumors based on changes in DNA methylation. It can also be used to support standard diagnostics when detecting bladder cancer in cases where malignancy is suspected.

The test has a CE mark in Europe and FDA 510(k) clearance in the U.S. for bladder cancer recurrence, meaning it can be marketed as substantially equivalent to another device in the U.S. market.

Nucleix is also developing a blood test for detecting lung tumors based on their DNA methylation signatures.

The company raised a $55 million funding round led by RA Capital Management in 2021, with participation from investors including BlackRock and corporate venture firm Lilly Asia Ventures. It followed up with a $22 million extension round in 2022.

In 2024, Nucleix sealed a strategic partnership with A. Menarini Diagnostics, part of the Italian Menarini Group, to bring its Bladder EpiCheck test to the European market.

 

5. Precede Biosciences

Founded: 2021 | Headquarters: Boston, Massachusetts

precede biosciences logo

Precede was established by a team comprising Dana Farber Cancer Institute researchers and the venture capital firm 5AM Ventures.

Precede is developing blood tests that measure signals of disease based on the genomic and epigenomic characteristics of cell-free DNA shed into the blood by tumors.

For example, the company tracks gene transcription activity and DNA methylation based on as little as one milliliter of plasma. It can then use machine learning to interpret the results and predict the optimal treatment for each patient.

Precede collaborates with drugmakers to harness its technology to inform the development of next-generation radioligand therapies and antibody-drug conjugates, which depend on the knowledge of target expression and pathway activity rather than single genomic alterations.

The research-focused product Precede Bio Insight™ is designed to track the progress of cancer, with data spanning breast and prostate cancer.

The second product, Precede Bio Dx™, also allows clinicians to select patients for clinical trials based on the blood test results.

The company emerged from stealth mode with $57 million in 2023, and followed up with a Series B round worth $83.5 million in January this year to fund the scaling of its technology as it gains commercial traction.

Among the B round’s syndicate were corporate venture investors Labcorp Venture Fund and Lilly Asia Ventures, and existing investor Illumina Ventures.

 

Jonathan Smith, PhD, is a freelance science journalist based in the U.K. and Spain. He previously worked in Berlin as a reporter and news editor at Labiotech, a website covering the biotech industry. Prior to this, he completed a PhD in behavioral neurobiology at the University of Leicester and freelanced for the U.K. organizations Research Media and Society of Experimental Biology. He has also written for medwireNews, Biopharma Reporter, and Outsourcing Pharma.

The post Beyond the Genome: Five Emerging Leaders in Epigenetics Diagnostics appeared first on Inside Precision Medicine.

Trump administration warns more than 500 hospitals to provide more price information or face fines

WASHINGTON — The Trump administration has warned more than 500 hospitals that they are failing to provide the public with basic pricing information — arguing that the lack of disclosure is keeping healthcare costs higher than they should be.

The Associated Press obtained exclusively the list of hospitals that since April have either received letters of warning or, in more severe cases, requests to submit plans to provide transparent pricing. Failing to comply with the warnings comes with penalties as high as $2 million annually for each recipient that doesn’t create a plan to post clear pricing data.

Read the rest…

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Complete Connectome of Fruit Fly Central Nervous System Now Open-Source

A new study published in Nature titled, “Distributed control circuits across a brain-and-cord connectome”, describes a complete wiring diagram of all the connections between neurons in the central nervous system of an adult fruit fly for translational applications.

The work was completed by an international team led by multiple labs at Harvard Medical School (HMS) and Princeton University. The team has made the entire connectome accessible online to propel research into complex behaviors and other fundamentals of the nervous system. 

The fruit fly, Drosophila melanogaster, offers an effective model as they are easy to breed and maintain in the lab. Despite having a relatively simple nervous system made up of around 160,000 neurons, they exhibit complex behaviors such as navigation, social interaction, learning, and responding to sensory cues. 

To build the connectome, the team used electron microscopy to produce millions of images of neurons and neural connections. AI tools aligned the images into a cohesive 3D map. 

“It is really important to have a central nervous system connectome that is as complete as possible so we can link up the brain and body and start thinking about behavior holistically,” said Wei-Chung Allen Lee, PhD, associate professor of neurobiology at HMS and co-corresponding author on the study. 

The connectome shows how each neuron connects in the brain and nerve cord at the synapse level. While the map doesn’t span the fly’s entire body, the team used identifiable neurons and literature review to connect the central nervous system to neurons in appendages and sensory organs. 

The authors have already used the connectome to explore motor control. While a longstanding idea in neuroscience is for a centralized controller in the brain to make decisions about actions, the authors discovered that motor control in the fruit fly mostly occurs at a local level. For example, movement of a fly’s leg is primarily controlled by the neural circuits for that leg. The local circuits for one leg then communicates with other appendages to carry out complex coordinated movements, such as walking. 

“The brain and nerve cord connectomes are each useful on their own, but until you can bridge the two, it’s hard to understand how information moves between the brain and the body,” said co-first author Helen Yang, PhD, a research fellow in neurobiology at HMS. 

Looking ahead, the researchers plan to add more information to the connectome, including data describing neuropeptides, molecules that support neuron communication. Insights from the connectome may reveal fundamental principles about how nervous systems operate across species, including in humans. 

The post Complete Connectome of Fruit Fly Central Nervous System Now Open-Source appeared first on GEN – Genetic Engineering and Biotechnology News.

The Intersectionality of OCD and the Shame Surrounding Sexuality 

By Mike Vatter

Obsessive-Compulsive Disorder (OCD) is often misunderstood as a condition involving excessive cleanliness, organization, or ritualistic behavior. In reality, OCD is a complex mental health disorder characterized by intrusive thoughts, unwanted images, fears, and compulsive behaviors intended to reduce anxiety. One of the least understood and most painful aspects of OCD occurs when intrusive thoughts intersect with sexuality, creating a profound sense of shame, confusion, and isolation. 

Sexuality is already a deeply personal aspect of human identity. Many people grow up receiving messages, whether from family, religion, culture, or society, that certain thoughts, desires, or identities are inappropriate or unacceptable. When OCD enters this landscape, it can weaponize these fears and vulnerabilities. Intrusive thoughts often target what a person values most or fears most. As a result, individuals with OCD may experience unwanted sexual thoughts that feel completely inconsistent with their values, identity, or desires.

Someone with OCD may become trapped in relentless questioning: “What if I am attracted to someone I shouldn’t be attracted to?” “What if these thoughts mean something about who I really am?” “What if I am secretly a bad person?” These questions are not driven by genuine desire but by overwhelming anxiety and uncertainty. Nevertheless, the individual often feels compelled to seek reassurance, analyze their reactions, or avoid situations that trigger distress. 

The shame surrounding sexuality intensifies this struggle. Society frequently treats sexual thoughts as reflections of character rather than recognizing that thoughts can occur without intent, desire, or meaning. For people with OCD, this misunderstanding can be devastating. Many become terrified that simply having an intrusive thought makes them immoral, dangerous, or fundamentally flawed. As a result, they often suffer in silence, afraid that disclosing their thoughts will lead to judgment or rejection. 

The intersection of OCD and sexuality can affect people of all sexual orientations and gender identities. Some individuals experience obsessions centered on questioning their sexual orientation, regardless of whether they identify as heterosexual, gay, bisexual, or otherwise. Others experience intrusive thoughts involving taboo or unwanted sexual scenarios. In each case, the distress comes not from the thoughts themselves but from the meaning the individual fears those thoughts represent. 

This experience is particularly challenging because shame thrives in secrecy. The more a person attempts to suppress, analyze, or eliminate intrusive thoughts, the stronger and more persistent those thoughts often become. OCD feeds on certainty-seeking, convincing individuals that if they can just think hard enough or find enough reassurance, they will finally feel safe. Unfortunately, the cycle rarely ends that way. 

Recovery begins when individuals learn to separate intrusive thoughts from identity and intention. Evidence-based treatments such as Exposure and Response Prevention (ERP) help people tolerate uncertainty and reduce compulsive responses. Through treatment, many discover that thoughts are not actions, urges are not intentions, and anxiety is not evidence. They learn that having an intrusive thought says far less about their character than the courage it takes to face that thought without engaging in compulsions. 

Understanding the intersectionality of OCD and sexual shame requires compassion, education, and nuance. It demands that we challenge cultural assumptions about thoughts and morality while recognizing the unique suffering OCD can create. When people understand that intrusive thoughts are a symptom of a disorder rather than a reflection of character, shame begins to lose its power. 

Ultimately, healing occurs not when every intrusive thought disappears, but when individuals no longer measure their worth by the thoughts that enter their minds. By replacing shame with understanding and fear with self-compassion, people living with OCD can reclaim both their mental health and their sense of identity.

The post The Intersectionality of OCD and the Shame Surrounding Sexuality  appeared first on International OCD Foundation.

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The Download: whole-body rejuvenation drugs and five things to know about AI

This is today’s edition of The Download, our weekday newsletter that provides a daily dose of what’s going on in the world of technology.

David Sinclair plans to test whole-body rejuvenation drugs in the XPrize competition

The outspoken longevity scientist David Sinclair has predicted that, one day, you’ll go to the doctor and get a prescription that will make you 10 years younger. MIT Technology Review has learned of his latest step toward this: human tests of a “reprogramming” drug.

Sinclair, a biologist at Harvard Medical School, plans to launch the tests in a $101 million competition organized by the XPrize Foundation. The winners will “restore” a person to an earlier apparent age, as measured by improvements in immune, cognitive, and muscle function.

The grand prize goes to any team able to show a 10-year (or greater) relative improvement after one year of treatment. 

Sinclair says he plans to give an oral drug mixture to volunteers, in a bid to seek “evidence for age restoration in humans.” Find out how he hopes to reverse ageing through chemical reprogramming.

—Antonio Regalado

Five things you need to know about AI

—Will Douglas Heaven

At SXSW London last week, I gave a talk called “Five things you need to know about AI,” in which I shared what I think are the biggest themes in AI right now.

I pulled a few things from our first AI10 list, an annual guide to the top trends in this buzzy world, but I also veered off on several tangents. In my half-hour slot, I tried to cover the key talking points that I think help to make sense of what’s going on in tech—and thus the economy—today.  

Five key thoughts emerged: AI is everywhere all at once, it’s getting scary, a backlash is growing, it’s becoming a big deal for science—and I didn’t even need to show up at the talk. Read the full story for all the details.

The must-reads

I’ve combed the internet to find you today’s most fun/important/scary/fascinating stories about technology.

1 OpenAI has confidentially filed for a US IPO
The listing could come as early as September. (Reuters $)
+ OpenAI is targeting a valuation of up to $1 trillion. (Financial Times $)
+ The IPO will test investor appetite for AI companies. (WSJ $)
+ The move follows IPO filings from Anthropic and SpaceX. (CNN)

2 The US claims BYD, Baidu, Alibaba, and others are aiding China’s military
The Pentagon added them to a list of military-linked companies. (WSJ $)
+ The designations limit their operations in the US. (BBC)
+ The new additions also include humanoid firm Unitree. (TechCrunch)
+ The Pentagon is adapting to China’s tech rise. (MIT Technology Review)

3 Apple’s long-awaited AI overhaul of Siri is finally here
Siri AI” promises to be a more conversational assistant. (NYT $)
+ It includes a standalone app and screen-reading features. (Reuters $)
+ And arrives after two years of repeated delays. (Axios)

4 The White House and Congress are working to limit state AI laws
A new deal would curb state rules for federal legislation. (Axios)
+ AI regulation has divided US politicians. (MIT Technology Review)

5  Meta is launching a “workforce academy” for building data centers
The five-week program is free of charge and guarantees a job. (WSJ $)
+ It arrives shortly after Meta laid off 8,000 employees. (NPR)

6 Taiwan is mulling curbs on AI chip exports to China

The new controls would further align with US restrictions. (Bloomberg $)
+ Future AI chips could be built on glass. (MIT Technology Review)

7 Meta has quietly removed face-recognition code from its smart glasses app
The code identified by investigators has disappeared. (Wired $)

8 Humanoid robots are edging towards the battlefield
American and Chinese militaries are pursuing the tech. (BBC)

9 The world’s first wind-powered underwater data center has launched
It uses less power and water than land-based equivalents. (Guardian)

10 You could get some benefits of sleep without having to nod off
If new brain stimulation works as well on humans as on mice, that is. (New Scientist $)

Quote of the day

“You’re on the train, but you know that there’s no destination.”

—Clara Shih, a former top AI executive at Salesforce and Meta, tells the New York Times that AI training can’t keep up with the field’s advances.

One More Thing

biomilq concept illo

ILLUSTRATIONS BY AMRITA MARINO


Inside the race to make human sex cells in the lab

An embryo forms when sperm meets egg. But what if we could start with other cells—if a blood sample or skin biopsy could be transformed into “artificial” sperm and eggs? What if those were all you needed to make a baby?

That’s the promise of a radical approach to reproduction. Scientists have already created artificial eggs and sperm from mouse cells and used them to create mouse pups. Artificial human sex cells are next.

The advances could herald the end of infertility, but they raise major scientific and ethical challenges. 

Read the full story on the new recipes for sperm and eggs.

—Jessica Hamzelou

We can still have nice things

A place for comfort, fun, and distraction to brighten up your day. (Got any ideas? Drop me a line.)

+ These chefs turn Pop-Tarts into the desserts that inspired them.
+ A choir has beautifully transformed System of a Down’s “Chop Suey!”
+ Scientists finally traced crabs’ sideways walk in this fascinating study of evolution.
+ This nostalgic essay on the family computer is a touching throwback to early internet life.

Top image credit: Stephanie Arnett/MIT Technology Review | Getty Images

Please send Pop-Tarts to hi@technologyreview.com

You can follow me on LinkedIn. Thanks for reading!

—Thomas

A data-driven measure of REM sleep propensity for human and rodent sleep

IntroductionMammalian sleep is characterized by alternations between episodes of rapid-eye-movement sleep (REMS) and non-REM sleep (NREMS). The phenomenon of REMS pressure, namely a drive for REMS that builds up between REMS episodes, is thought to govern the timing of these ultradian NREMS-REMS cycles. Prior analyses of NREMS-REMS cycles in mice suggested that time in NREMS is a primary contributor to REMS pressure. We previously introduced a REMS propensity measure defined as the probability to enter REMS before the accumulation of an additional amount of NREMS. Analyzing mouse sleep data, we showed that REMS propensity at REMS onset was positively correlated with REMS bout duration and with the probability of the occurrence of a REMS bout followed by a short inter-REMS interval, called a sequential REMS cycle.MethodsHere, we extend the analysis of NREMS-REMS cycling to human and rat sleep behavior. We compare REMS propensity measures computed from sleep data recorded in humans, mice, and rats. As REMS in humans is influenced by the circadian rhythm, we also analyze circadian modulation of the expression of NREMS-REMS cycles across the human sleep episode.ResultsWe find that, as in mice, human and rat sleep contain both short sequential NREMS-REMS cycles and longer single NREMS-REMS cycles, with differences in the timescales of cycle durations. Although rodents exhibit polyphasic sleep in contrast with the consolidated sleep of humans, the calculated REMS propensity measures in all three species show similar profiles as functions of time spent in NREMS. Importantly, positive correlations of REMS propensity at REMS onset with REMS bout duration were present in both human and rat data as previously found in mouse data, suggesting that time spent in NREMS also influences REMS duration in these species. In the human data, we identified nuanced changes in the occurrence of single and sequential NREMS-REMS cycles suggesting that increased percent time spent in REMS as the sleep episode progresses is not solely due to increased REMS bout duration.ConclusionResults suggest that similarities in the regulation of NREMS-REMS alternation exist, despite temporal differences, in nocturnal polyphasic rodent sleep and diurnal monophasic human sleep.

Pulvinar and total thalamus volumes are preserved following early monocular enucleation

BackgroundMonocular enucleation, the surgical removal of one eye, occurs early in life and leads to changes in visual, auditory, and audiovisual processing in adulthood. These changes can be observed behaviorally, as well as through cortical structure and white matter connectivity of visual and auditory pathways. Subcortically, the thalamus is a critical sensory processing structure that modulates both unisensory and multisensory stimuli, which are later processed in the cortex. Previous studies have shown that following monocular enucleation, the lateral geniculate nucleus (LGN) is reduced in volume, although this reduction is less than predicted. In contrast, the medial geniculate body (MGB) is asymmetric but maintains its volume. Together, this may support the auditory and audiovisual enhancements observed following early monocular enucleation. Another key subcortical thalamic nucleus, the pulvinar, plays a broad role in human visual information processing and sensorimotor integration.MethodsThe current study used structural MRI to anatomically localize and measure the total pulvinar and its subnuclei, as well as total thalamus volume, in individuals who had undergone early monocular enucleation during postnatal maturation compared to binocularly intact controls.ResultsOverall, people with one eye demonstrated preserved pulvinar and total thalamus volumes compared to binocularly intact controls.ConclusionThe preserved structural volume of the pulvinar and total thalamus may support the intact lower-level auditory and audiovisual processing previously observed in individuals with one eye. The absence of pulvinar volume changes in this broad-function supporting, subcortical region builds on previous studies regarding thalamic plasticity after early monocular enucleation. These findings provide evidence that not all thalamic nuclei show measurable long-term volumetric alterations and that neural plasticity is both regionally and functionally dependent.