In 2003, the Human Genome Project was considered completed. This international project was a collaborative, all hands-on deck research project.  The first draft had 3 billion base pairs and about 90% of the entire genome completed.  The completion of the Human Genome Project sparked a genetic revolution and redefined the diagnostic and tool space.  Since then, the project has paved the way for many next-gen sequencing companies and an increased incorporation of artificial intelligence in diagnostic and tools companies. 

One of the first names that comes to mind is 23andMe, which launched their autosomal DNA test kit that gives insight into one’s ancestry. They have more than 10 million customers who have each taken a saliva-based test that is then sent to 23andMe’s labs.  23andMe technicians focus on 700,000 different locations or 6 billion DNA base pairs of code that allow them to identify the customer’s genetic differences and basic information.  23andMe is a pioneer and has shown the life science industry that not only can you be a successful diagnostic and analytics company, but you can attract high-value private investment. Since the creation of the test, they have raised a total of $491 million to date (their last round led by Sequoia Capital) and were valued at $1.75 billion. When 23andMe information was used to catch the Golden State Killer, theyproved tothe public the power of genetic sequencing.

Through their genetic tests, they have introduced a new component to traditional diagnostics, data.  The analytics component is a turning point in the digital health space.  This is when it becomes critical for startups to have someone on their team with a tech background who is familiar with managing big data.  Because they were the first to market, 23andMe has raised many new and challenging questions, such as what are the ethical considerations, what is the data privacy policy, and what should the United States government’s stance be?  While different individuals and groups are attempting to answer those questions, a wave of companies using genetic sequencing are developing.  The genomics and sequencing space seems to be creating endless opportunties.  A few I would like to focus on are Illumina and Helix.

Illumina manufacturers DNA sequencers and has been named “the Google of genetic testing” by Wired Magazine.  They sell high-throughput DNA sequencing systems that are not only the best, but also and cheapest.  They have reduced the cost of sequencing the human genome from $1 million in 2007 to $100.  They are launching their most recent machine NovaSeq, which can “sequence as many as 48 entire human genomes in two and a half days.”  To put this into perspective, a little over 10 years ago, the Human Genome project cost $2.7 billion, 15 years, and multiple universities and researchers in the United States, United Kingdom, France, Germany, Japan and China to sequence 1 genome.  Today, Illumina has a near monopoly in DNA sequencing, as they perform 90% of it.

Illumina has also created its own accelerator that is currently recruiting their 10th class. The accelerator welcomes genomics driven startups and provides, coaching, lab space, sequencing resources, and helps startups generate data.  The companies can be using genetic data to create “therapeutics, diagnostics, agriculture, synthetic biology, forensics and direct-to-consumer applications.” 

Helix, a spin-off of Illumina, has created an app store for your DNA.  Their goal is to unlock information that impacts your daily life.  Their model is similar to 23andMe. You order the Helix DNA kit on their Helix store. You provide a small saliva sample that is then mailed to Helix and is sequenced.  You are then given access to their Helix store, where you can choose from different categories such as ancestry, health, wellness, and entertainment.  Each category provides different information and insights into many facets of your life.  Ontheir website, some optionsthat standout arepersonal health tests, food sensitivities, exercise response, caffeine, and sleep.  These tests provide data that either support or reject the intuition people typically have, for example “how many hours of sleep are ideal for my body” or “I think I have a sensitivity to gluten.” Their most recent test highlights your risk of diseases such as colon cancer, high cholesterol, and breast cancer.  The test is considered more comprehensive, more convenient, and more responsible than competitor 23andMe.

According to CBInsights, there is growing interest and capital being directed toward the genomics space.  In 2018, genomics and sequencing companies accounting for 11% of the total digital health dollars raised.  As we look to the future, there are a lot new and exciting companies being started.  


  1. Really interesting post – outside of 23andMe, I was not aware of other direct-to-consumer genomics companies or the push for increased investment/start-up development in this space. Outside of the ethical quandaries presented by these companies, I think 23andMe and its peers raise an interesting question about human psychology: should the average individual be presented with highly technical and potentially devastating information about their personal health risks without the proper knowledge, training, and context? In the US, there has been a recent push among genetic counselors – trained individuals who provide in-depth interpretations of genetic tests to both medical professionals and patients – to be more involved in the DTC genetics process. They argue that individuals using such services are likely to misinterpret the results and confuseincreased risk determinations as a set conclusion that they will or will not develop particular illnesses and conditions – for example, according to a recent write-up in The Atlantic, “23andMe tests only for three mutations in the genes associated with breast cancer that are most common in Eastern European Jews.” It is unlikely (and perhaps unfair to expect) that the typical DTC genetics kit user would have a strong grasp on the implications of such parameters. Genetic counselors, then, could fill in these gaps, although they are rarely covered by health insurance when consulted independently/outside of a clinical setting or medically-ordered testing. With this in mind, the National Society of Genetic Counselors (NSGC) and other professionals are calling on state and national legislators to recognize genetic counselors as independent providers – by doing so, counselors could be given more autonomy to work with individuals outside of traditional medical settings.

    The Atlantic write-up: https://www.theatlantic.com/health/archive/2018/05/can-genetic-counselors-keep-up-with-23andme/560837/

  2. I received a 23andMe kit for Christmas last year and was initially super excited to see the results. It ended up not providing much exciting information regarding my heritage (I’m 50% English and 50% German which I already knew). But I did find the health/genetic risk factor reports to be interesting. As we learn more and more about the genome using this type of technology, the earlier and more accurate we will be able to diagnose serious diseases, leading to lower fatality rates. The increase in the amount of genomic data brought about by tests such as 23andMe can assist researchers in finding cures for diseases such as Alzheimer’s and cancer.

    The one worry I have with providing affordable genomic sequencing technology to the general public is that people will take advantage of it. A large amount of personal information can be discovered using DNA sequencing which can be dangerous if it falls into the hands of someone who wants to misuse it. Do we need to do background checks on buyers before handing them this type of technology? I’m undecided.

  3. Jaclin Murphy · ·

    23andMe is such an interesting concept. I’m someone who probably does not worry enough about privacy, and I only saw the benefits of this service. For one it’s really cool! The added layer about learning things about your health and health risks is really powerful. Plus considering I’m not a serial killer or related to any (hopefully), I not too concerned about having my DNA out there. I have not actually bought the kit, but have been considering it. However, the more we discuss this is class, I see how people don’t want this to be publicly available and the threat that presents. Having sensitive medical information out there is obviously a huge concern, and no one would want that to get into the wrong hands. I guess I should probably do some more research!

  4. Great post! I’ve been following 23 and me for many years. I’m sort of surprised that they’re really still where they are – never really taken off huge but never collapsed either. Less than $2B valuation on a $491M in funding isn’t that great, but Sequoia knows what it’s doing. They must expect the analytics side of the business to take off.

  5. Olivia Crowley · ·

    I recently convinced my parents to order 23andMe kits for the three of us (both of my younger siblings were uninterested), which we completed and sent in over Christmas break. I then received my ancestry results about a month later, which I actually found quite interesting. I am much more Irish than I thought! Anyway, that being said, I chose to forgo the additional health and wellness reporting, 1) because it was more expensive, and 2) because I’m not sure I would take the information seriously enough without then requesting similar testing from family doctor anyway. But I do think that tests like these are likely the way of the future. I mean, think of all the things we rely on our Apple watches, weight loss apps, and YouTube tutorials for.

  6. cynmzfigueroa · ·

    Did not know the Golden State Killer 23 and me story, pretty neat! This company’s success is pretty fascinating to me because I’m still struggling to what kind of company exactly are we giving our DNA to? At least with Ancestry.com I understand the value proposition a bit better because of the aligned core business of building out your family ancestry. I really enjoyed your coverage of Illumina, it’s really an achievement of both computing power and advances made in this space that helped drive down the costs oh genome sequencing. Overall still a lot of questions for me as to how this tech will continue to grow moving forward.

  7. kateu19 · ·

    Interesting post! I’ve known about 23andme and Ancestry.com for a few years, but I wasn’t super aware of the health components to 23andme. I’m a little torn about the privacy aspect of this – I don’t know that I want my DNA out there, but I think this information could be so helpful, especially for people who may not know their full family’s health history.

    Regarding 23andme being used to find the Golden State Killer, I think this is an incredibly interesting use of the data that these companies collect. I wonder if users are aware that their DNA may be used in this way, and if they are not, how many people would opt out of using these companies.

  8. I’m really glad that genetic testing is becoming more consumerized because it will allow people to become more informed about their risk factors for various genetic diseases. However, I feel like there will be so much misinformation about genetic markers that people will have to try extremely hard to educate themselves. For example, I used to constantly see articles about how people found the gene for religious beliefs, propensity for anger, intelligence, etc. But we all know correlation doesn’t mean causation, which is what these articles typically (and conveniently) forget. We know so little about how genes interact and what triggers them to become active. Until we are able to learn more, I hope that people do not change their behavior after associating a particular gene marker to a potential behavioral trait.

  9. I am still really unsure where I stand on this still. I have friends who have done it and they swear by it…but it still seems creepy to me. I know there was a story about two identical twins that had their DNA tested and the results came back different for each of them…things like that make it seem like there is a margin of error that makes me skeptical. That being said, as the tech improves I will probably be looking more into these types of services.

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