tl;dr: we are pleased to publicly announce Gencove, a company we formed to make genomic data accessible and interpretable. Start collecting genomic data now or get a sequencing kit for yourself at gencove.com.
In 2011, a few weeks before I was scheduled to defend my PhD thesis, a cardiologist sat me down and told me he was worried I might drop dead at any moment.
The potential diagnosis, he kindly explained, was “Brugada syndrome”: an autosomal dominant genetic disease with the primary symptom of sudden cardiac death. Was I familiar with the idea of genetic disorders?
Indeed I was. As I wrote at the time, while working my way through the medical system I was surprised to see how little genetic information was used, even for the diagnosis of a genetic disease.
In the six years since, the situation has marginally but not substantially improved. There are two keys reasons for this:
- Genome sequencing is not accessible: at the time, I would have liked to pull out my laptop (or now, my phone) to check whether I carried any genetic variants associated with sudden cardiac death. I couldn’t do this, and most people today still can’t because 1) genome sequencing is expensive and 2) there isn’t great software available to you or your doctor that can ingest genomic data and process it.
- Genome sequences are difficult to interpret: more importantly, even if you have your genome, turning that data into a useful interpretation is extremely challenging. Even for a genetic disease like Brugada syndrome, the simple fact is we don’t know all of the genetic variants that cause the disease. And without knowing which genetic variants matter, interpreting your genome becomes an exercise in reading tea leaves.
Ultimately, making genome sequencing accessible is a technological problem and making it interpretable is a data problem. Today, I am pleased to publicly announce Gencove, a company with the goal of solving these problems. The founding team includes me, Tomaz Berisa, and Kaja Wasik, and we are proud to be backed by a set of world-class investors: Third Kind Venture Capital, Version One Ventures, Refactor Capital, SV Angel, Kresimir Penavic, and Balaji Srinivasan. We are also extremely grateful to the New York Genome Center for their support in getting this project off the ground.
The flagship product of Gencove is our inexpensive (currently $59.99) genome sequencing assay. This assay outperforms genotyping microarrays for most purposes and underlies the ancestry and microbiome tests in our Gencove app. We are opening up this technology to software developers, researchers, and anyone else via our site and API. What sorts of applications does this enable? Some include:
- Start an ancestry analysis site without any physical infrastructure. Far and away the most popular consumer applications of genomics involve learning about ancestry and genealogy; the largest genomics dataset in the world wasn’t assembled by 23andMe or the Broad Institute, but rather by AncestryDNA. Starting a project in this space used to involve rather painful (trust us!) steps of setting up shipping and receiving of saliva samples and a molecular biology lab to process them; with Gencove this is all abstracted away to a few clicks (or API calls).
- Build a digital biobank. The most powerful research applications of genomics today involve “biobanks”: sets of individuals who contribute their genetic data and medical information to be used for research purposes. The UK Biobank is a model biobank study, and the planned US Precision Medicine Study will hopefully be another. These types of studies are historically hugely expensive (indeed the ones I mentioned are run by national governments). With Gencove, anyone can put up a website and start collecting large amounts of genomics data at low cost. The next big biobanks may not need the support of a national government, but could be run by small companies, non-profits, or even individual grad students.
- Start a genetically-informed health tracking app. There is currently a large amount of interest in apps that track health data, from heart rates to Parkinson’s symptoms to sleep quality. Any developer that wants to be able to customize an app at the level of an individual will ultimately have to take into account the genetics of the person. For example, the fact that a user is at genetically high risk for heart disease (and thus stands to benefit in a quantifiable way from a healthy lifestyle) is the type of thing that, conveyed in the right way, might be a valuable addition to a fitness app. The next generation of these apps could even learn themselves which genetic variants are the most important, and do valuable genomics research on their own.
Ultimately, the vision of a future where everyone can access and interpret their own genomic data remains just that: a future. But we see a clear path to get there:
- Build inexpensive and enjoyable products around genomic applications that currently are most well-developed, e.g. ancestry analysis or polygenic trait scores.
- Use the genomic data generated to find (and help others find) the genetic variants that really matter.
- Build the next generation of genetic tests based on these findings.
- Iterate on 1, 2 and 3 until there’s nothing left to discover :)
If you are an individual or organization that shares this vision, we want to hear from you! Please feel free to contact me directly: