So, here we are. It’s 2017 and generating genomic data is not far from being a high street service. Swab your cheek, post the sample, and a few days later receive a colourful score card and – if you remembered to ask – your very own data. In the labs, applications are forming a fast growing club, from diagnosis of rare diseases, drug response, to family planning, to name but a few. Falling costs, soaring accuracy and a steadily expanding base of scientific knowledge have brought sequencing to the cusp of routine clinical care. Wearables now monitor biodata real-time and we will soon look back on the days when we prescribed the same treatment to everyone with a given condition as boorish. Precision medicine, here we come – again!

Ten years ago, consumer genomics pioneer 23andMe launched its first health testing kits. Illumina had just acquired Amadeus backed-Solexa, setting the ground for future world domination in genomics hardware. Time magazine named “The Retail DNA Test” as its 2008 Invention of the Year and almighty Nature cited “Personal Genomics Goes Mainstream” as a top news story. Excitement was palpable.

Fast forward and things get, well, sobering. Many in the industry got ahead of themselves, ending up wrestling with regulators, class-action lawsuits from early adopters, or looked down by prominent voices raising alarms at the societal consequences of shallow offerings. Oh, boy.

Why on earth did it all go pear shaped? At the core of it is the fact that the science in many cases is still far from settled. Despite the progress, each question that the genome helps to answer throws up further questions. Much remains to be understood about how information is interpreted by the individual cells in our body. Large regions (non-coding, fingers crossed) are yet to be interpreted. If that wasn’t enough, turns out the genome changes continuously and does so at a ludicrous rate. Talk of moving goalposts.

As early stage tech investors, one of our jobs at Amadeus Capital Partners is to form views on short- and long-term prospects of a field or industry. Here is just a handful of the stuff that excites us in functional genomics and systems biology, some of which will be covered in future posts.

• Time to hit the gym. When compared with usual big data generators (astronomy, YouTube, etc), genomics will be one of the most demanding fields in terms of data acquisition, storage, security, distribution and analysis. As a raw data format, a single person’s genome takes up about 150 gigabytes (ie. 2 bits / base pair, 3 billion of them, 30 reads). Imagine the computing power required when genomes start being analysed routinely at scale, or when patients get invited to feed in daily biodata (folks, a bit of longitudinal data wouldn’t hurt). The current approach is still probabilistic in nature when it should be deterministic. All-in-all, the computational crunches of tomorrow make today’s ‘big data’ struggles look like pocket-calculator tasks.
• Garbage in, garbage out. Because the field is nascent, genomic and clinical data differ in reliability, usability, security and scale from one lab to another. It also tends to be trapped in isolation within treating facilities and regimented by patient consents with a wide range of usage guidelines. Being able to access high quality, standardized and aggregated data is a challenge, but one to be tackled long before adding a layer of machine learning, and eventually… AI.
• Nature vs Nurture. There is growing awareness of polygenic diseases, which are associated with several genes and influenced by environmental factors too. The holy grail to understand linkages, and eventually develop genuinely personalised treatments, is a dataset that combines rich genetic and both clinical and real-life (aka. phenotypic) data. Some see wearables as the convey to real-life data, others hope electronic health records hold the key. Amadeus Capital believes that near term breakthroughs will rather come from epigenetics and intermediate phenotypes such as gene expression and other molecular measurements.
•  New ecosystems, new business models. To get useful insights, one needs (high-quality) data, and to get it, consumers need to buy in. New ownership models will emerge as we reach the end of an area where corporations own the data. Payers will expect systematic outcome measurements and accountability from pharma, healthcare providers and patients. Genetic data, essentially a physical asset, will be disaggregated and consumed as service. Individuals will become active economic actors and their relationships with healthcare groups will expend from one-to-one to one-to-many… sounds like a marketplace all of a sudden.
• Shiny toys. Although gene therapy has been around for 20 years, coarse editing and insertion techniques have prevented it from taking off. Until now. The ever-growing genetic toolkit available to researchers is helping accelerate the study of gene function. Technologies such as CRISPR allow for accurate and precise changes to the genome, opening doors to new treatments, but also future preventive corrections.

We feel privileged to have reached summits alongside intrepid entrepreneurs, time and again – and the gears are always packed, just so you know. Here is a snapshot of past and on-going climbs: Solexa, Congenica, Base4, Repositive, iGenomix, Synthace, Healx, Genetrainer, PhoreMost, Fluidic Analytics, Sphere Fluidics.

#digitalhealth #genomics #bigdata #marketplace #PrecisionMedicine #healthcare#ArtificialIntelligence #ai #crispr

Pierre Socha is a Principal in the Early Stage Funds team at Amadeus Capital Partners.