9 Genomics Startups for Investors to Watch

The history of direct-to-consumer genomics tests goes something like this. Genomics startups first started offering hereditary tests that required a DNA sample and everyone quickly climbed on board without realizing just how much information they were handing over to people they didn’t really know that well. Eventually, testing companies started moving into DNA health tests and then the FDA stepped in. Everyone panicked, and test companies started pivoting into different offerings with the number of available tests exploding, all while the general public became increasingly aware of DNA privacy implications.

With privacy concerns at the forefront of everyone’s minds, startups like Helix tried to address the problem with a new business model that provided a central location to store your genetic sample while “permissioning” other apps to access your data and provide insights for everything from predicting your intelligence to DNA dating. That didn’t pan out though, and Illumina (ILMN) backed out of their investment in Helix amid layoffs and a shift from “selling apps to consumers online” to a “focus on providing turnkey sequencing solutions and services to health systems, payors, and researchers interested in population health genomics,” according to an article by GenomeWeb.

The Helix pivot was quite a surprise, and made us wonder which genomics startups are making the most progress today. To answer that question, we turned to CB Insights which lists nine genomics startups in their 2019 Digital Health 150. The first one happens to be a company that’s also backed by Illumina, Grail.

Cancer Blood Tests

Click for company websiteFounded in 2016, San Francisco-based Grail has taken in a whopping $1.6 billion in funding from a respectable list of investors including names like Johnson & Johnson, Merck, Sequoia, Illumina, Jeff Bezos, and Bill Gates. We last discussed Grail in our article on 8 Blood Tests for Cancer Being Developed by Startups, and talked about how they were spun out of Illumina for “the sole purpose of detecting cancer early through blood-based screening with lung and breast cancer at the top of their to-do list.”

Also called liquid biopsies, most cancer blood tests look for genetic mutations to identify cancer. Grail’s test uses a methylation-based technology that targets the most informative regions of the genome and uses “machine-learning algorithms to both detect the presence of cancer and identify the tumor’s tissue of origin.” GRAIL’s sequencing database of cancer and non-cancer methylation signatures covers approximately 30 million methylation sites across the genome with more than 20 cancer types represented.

Just yesterday, Grail released performance data for their investigational multi-cancer early detection blood test. GRAIL’s test was administered to 927 participants – some with cancer, and some without – and correctly identified 12 different cancer types for 76% of the patients with cancer. Even more impressive, a “tissue of origin result” was provided for 97% of the positive tests at an accuracy of 93%. One startup that might not be so excited to hear this news is Freenome.

Update 05/07/2020: Grail has raised $390 million in Series D funding to continue developing and commercializing their multi-cancer early detection blood test. This brings the company’s total funding to $2 billion to date.    

More Cancer Blood Tests

Click for company websiteFounded in 2014, San Francisco startup Freenome has taken in just over $237 million in funding from investors that include Roche, Google, Kaiser Permanente (the largest managed care organization in the United States), T. Rowe Price, and Charles River Laboratories. Freenome’s blood tests also look beyond mutations to detect the body’s own early-warning signs for cancer. Using machine learning algorithms, the company decodes the biomarkers that represent “billions of complex patterns” that may indicate the presence of cancer.

Freenome DNA blood tests
Source: Freenome

Freenome’s first cancer test, AI-EMERGE, is for the screening of colorectal cancer, the second deadliest form of cancer in the U.S. In addition to early detection of cancer, the company has also entered into the business of biomarker discovery services which can aid the drug development process. Their most recent deal with ADC Therapeutics will see the Freenome platform used in a Phase 2 clinical trial to identify which patients are most likely to respond to treatment.

Update 08/26/2020: Freenome has raised $270 million in Series C funding to expand its platform of industry-leading blood tests for multiple cancers. This brings the company’s total funding to $507.6 million to date.   

Human Genome Research

Click for company websiteFounded in 2006, San Francisco startup 23andMe is a “human genome research company” that’s taken in just over $786 million in funding so far from an extensive list of notable investors including Fidelity, Google, the National Institutes of Health, GlaxoSmithKline, Genentech, and Illumina. The flagship product offering is a direct-to-consumer genetic testing service that’s available in retail locations like Walmart, Target, Walgreens, and Amazon, resulting in more than 10 million test kits being sold so far.

23andMe Genetic Test
Source: 23andMe

All those test results have provided the company with one of the largest genomic datasets in the world that’s actively being used for research (more than 80% of 23andMe customers have consented to participate in research). Helping out the medical community for altruistic reasons is great and all that, but if you want to be compensated for your contributions, then check out our next startup.

Anonymous Genetic Testing

Click for company websiteFounded in 2016, San Francisco startup Nebula Genomics has taken in $4.3 million in funding to create “the future of private and secure DNA testing.” Unlike other test companies, Nebula Genomics reads your entire genome at an affordable price point – right now that’s a one-year subscription for $29.95 – allowing you to retain control of your personal data and be compensated for any data sharing that happens – in tokens, of course. Co-founded by genetics pioneer George Church, we dug into their offering last year in our article on how to Sell Your DNA for Cryptocurrency with Nebula Genomics. Here’s the basic idea:

The way other genomics startups work

The Nebula Genomics business model
Source: Nebula Genomics White Paper

In case you’re still worried about the whole DNA privacy thing, Nebula Genomics is the first personal genomics company to offer anonymous genetic testing which doesn’t need a name, address, or even credit card number (just use some of that worthless cryptocurrency you have laying around). They’ll only know who all your relatives are, so nothing to worry about.


Click for company website“Currently, there are over 75,000 genetic tests on the market,” says Monterey, California startup Genome Medical. They’re “using telemedicine to integrate genomic medicine into everyday health care,” having raised just over $46 million from a list of investors that include Kaiser Permanente, Illumina, and GE Ventures. In the past, genetic test providers have been criticized for not providing enough counseling around the results of their tests, something that Genome Medical is solving for. The company’s cloud-based genomic care delivery platform is being used by hospitals like Nevada-based Renown Health which has now collected DNA data from over 35,000 Nevadans. This notion of “democratizing access to genomic health services” is another way of saying “everyone’s DNA is equally valuable regardless of their socioeconomic circumstances.”

Update 08/31/2021: Genome Medical has raised $60 million in Series C funding using part of the funds to acquire GeneMatters, which would add more genetic counselors to its staff. This brings the company’s total funding to $120.7 million to date.

Genetic Cancer Risk Tests

Click for company websiteFounded in 2013, San Francisco startup Color Genomics has taken in $112 million in funding from a whole slew of notable investors including U2’s own Bono. The company first came across our radar back in early 2018 when we wrote about Hereditary Cancer Tests from Color Genomics. A few months later, we wrote about how Color Genomics was also offering Genetic Testing for Hereditary Heart Disease. Today, the company has moved their focus away from direct-to-consumer tests and towards becoming a “leader in delivering advanced healthcare through clinical genetics.”

If you recall from our recent article on high-growth IoT startup Samsara, one of the co-founders of Color Genomics, Elad Gil, happens to be an expert in how to grow companies fast. The move to push tests through primary care providers or offer tests to employers for free is a good way to scale by offering tests to larger populations. We’re not sure how all the corporate slaves out there feel about giving employers DNA to help “transform their engagement in your health decisions,” but the strategy appears to be working with employers like Salesforce, Visa, Levis, and General Electric all climbing on board.

Update 01/04/2021: We profiled Color Genomics in a piece titled Hereditary Cancer Tests from Color Genomics.

Your DNA Community

Click for company website“As personal DNA sequencing has risen in popularity, the data has become siloed as each company looks to maximize their individual profit from this data,” says LunaPBC. That’s absolutely right, and the company goes on to talk about how there is no good incentive for consumers to contribute their DNA and health information to a third party database. This was the basis on which Helix tried to build their business model, though Illumina pulled out of that venture when Helix pivoted into “population health genomics.”

Coincidentally, some of the many co-founders of Illumina are behind LunaPBC having raised $8.3 million in funding to create the “first people-powered platform where you share health data, advance science and take part in the value created.” And contribute your DNA, of course. Let’s hope the community is strong enough to weather the exit event that LunaPBC’s investors are counting on. Like Nebula Genomics, LunaPBC also looked at using blockchain technology for their platform but ultimately decided against it.

It’s All About the Microbiome

Click for company websiteFounded in 2016, Los Alamos, New Mexico startup Viome has taken in $45.5 million in funding to develop technology that “captures everything that is happening in the gut microbiome.” Like the other 7 Startups Treating Disease Using the Microbiome we talked about, Viome wants to probe the genomes of the thousands of species that inhabit our guts and other parts of the body such as the skin in order to provide us with insights on how to lead healthier lives. The company’s metatranscriptomic sequencing technology allows them to see every microorganism in your gut microbiome and analyze the activity of these microorganisms in just a few weeks.

The Viome process
Source: Viome

For $149, you can order their microbiome test which will “take the guesswork out of eating right” or you can just exercise some self-control and start healthier on your own accord.

Data-Driven Medicine

Click for company websiteFounded in 2011, Swiss startup Sophia Genetics came out on top in our list of the Top-10 Artificial Intelligence Startups in Switzerland having taken in just over $140 million in funding. An article by TechCrunch talks about how the startup has built a platform that “applies AI to DNA sequencing” and has now been used by more than 990 hospitals in 77 countries. As of January this year, the startup claimed that their platform has already “supported the diagnosis of more than 300,000 patients.” The idea of “data driven medicine” is all about feeding the machine learning algorithms as much data as possible, an idea that companies like China’s iCarbonX have been working on for a while now.

Update 10/01/2020: SOPHiA GENETICS has raised $110 million in Series F funding to help support global expansion. This brings the company’s total funding to $250.2 million to date.  


A few things stand out when looking at this list of genomics startups. Firstly, there is much less emphasis on going direct-to-consumer. Instead, we see an approach that focuses on health providers, research efforts, employers, and then the individual. Secondly, there’s a renewed focus to address consumer concerns about DNA privacy. Thirdly, we see that artificial intelligence has become a key component of nearly every genetic test offering we’ve talked about today. The real value in genetic testing is the genomic data that can be accumulated and used to train machine algorithms so they can provide even more insights over time.


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