The field of bioinformatics is having its “big bang” moment.   Of course, bioinformatics is not a new discipline and it has seen various waves of innovations since the 1970s and 1980s, with its fair share of both exciting moments and disappointments (particularly in terms of linking DNA analysis to clinical outcomes).  But there is something special happening to the industry right now, accelerated by several factors:

•      The cost of full genome sequencing has been dropping precipitously, in fact a lot faster than Moore’s law would have suggested.  Illumina just released brand new machines that make the $1,000 full genome sequencing a realistic possibility.  As a result, an extraordinary amount of data is going to become available at reasonable cost (5.5TB or 6.3 Billion bases… per patient).

•      Big Data technology has had its own, separate evolution, and there is now an arsenal of tools to process and analyze massive amounts of data, at a comparatively cheap cost.

•      Wet lab work has become a more standardized and increasingly automated process, considerably reducing the “friction” involved in collecting and processing physical samples. The cost of setting up biology labs, while still high, is starting to decrease, and molecular techniques are no longer the limiting step in genomic analysis.

As a result of the above, biology is rapidly evolving from being predominantly driven by traditional life sciences research to being largely driven by software and Big Data.  This evolution considerably reduces the capital required to build a successful venture in the space.  It also opens up the field to a new generation of startups run by inter-disciplinarian teams that have at least as much of a software and data science background as a biology background.  A whole new world of bio-hackers is also emerging, from synthetic biology to personalized medicine, the possibilities are immense and the impact on our lives potentially unparalleled.  It is entirely possible that the next generation of great entrepreneurs will be building “biology 2.0” companies, rather than mobile apps.

This opportunity has not been lost on entrepreneurs and the last 3 years or so have seen a rapid acceleration of startup creation, in a wide range of area from diagnostics (Counsyl) to cloud platforms (DNANexus) to lab automation (Benchling, Transcriptic).  Interestingly but not surprisingly considering the above, most of those startups are funded by technology, rather than life sciences, venture capital firms.

Today I’m excited to announce that FirstMark is partnering with Recombine, a New York based startup that very much operates at this intersection between software, Big Data and biology, as its lead Series A investor. Recombine’s CEO, Alex Bisignano, symbolizes this new generation of entrepreneurs who have deep knowledge in multiple technical fields.  He has built around him a great, multi-disciplinarian team, and benefits from the deep industry knowledge and expertise of co-founder Dr. Santiago Munne, the owner of Reprogenetics and pioneer in pre-implantation genetic diagnosis.

Recombine’s core focus is the field of fertility and reproductive genetics, and it has had a spectacular early start with CarrierMap, its first product, generating a profitable multi-million dollar business with a comparatively small seed investment. The CarrierMap test is the most comprehensive, cost-effective, carrier screen on the market, and has already helped thousands of couples to identify and mitigate the risk of passing on serious illnesses to their children.  CarrierMap is sold exclusively through doctors and clinics, it is not a Direct to Consumer product (and therefore falls in a different category than 23andMe).

Beyond this initial focus, Recombine has ambitious plans to fully leverage Big Data technology to help decode the myriad aspects of our genome that are still not well understood. They have already obtained Institutional Review Board (IRB) approval for their first large-scale study, and the company is currently assembling a crack team of data scientists in New York City.  If you have deep expertise in data science field, this is an opportunity to help bring about a revolution in personalized medicine. Come join us!