As you may already know, DNAdigest has recently spun-out Repositive (formerly knows as Nucleobase),  the social enterprise to develop Open Source software tools for researchers. Not long ago, Adrian Alexa, our CTO,  gave an interview for Cambridge News explaining more in depth what lays behind the idea of Repositive. Take a look:

That bit in Jurassic Park where Dickie Attenborough explains about Dinosaur DNA (“and bingo… Dino DNA!”) – and then the insect rolls down the tree covered in sap – is, sadly, the total extent of many people’s knowledge of genomic data. You won’t be shocked to hear that there’s quite a lot more to it and, as usual, Cambridge is leading the way.

jurassic park

Repositive Ltd (a social enterprise and part of the Social Incubator East programme) is a spin-out of the Cambridge-based charity DNAdigest, fronted by founder Fiona Nielsen and her colleague Adrian Alexa who are both former employees of Illumina (the world leaders in genomic research with a UK office in Saffron Walden). Their mission statement is to ‘empower efficient access and the sharing of genomic data’.

Adrian explains:

The current practice for sharing and accessing genomic data is very poor. Typically, when a clinic sequences an individual, they will take consent that the data can be used for research. However, because there’s a lack of a forum in which to make the data available, typically once it’s used for its intended purpose, it’s just hidden away. There is no platform or tool for securely and ethically making genomic data accessible, and that’s where we come in.

Adrian adds:

We wanted to create a network, not for people to exchange data, but just as a way of making the data findable and accessible to the research community. Genomic data is like a fingerprint. You don’t want to give your fingerprint away for everyone to see, especially with your name on it, but you might want to put your fingerprint in a database in case someone wants to look at patterns, not to find out about you, but just to build a knowledge-base. With a vast knowledge-base of genomic data, we will be able to much better understand human health and disease.

So what does genomic data look like? Adrian tells us:

A human genome contains a sequence of 3.2 billion letters for each individual and there is only a 3.5 million letter variance between one person and the next. With your close family members, the difference between you is as little as thousands of letters.

So basically, we’re all pretty much exactly the same. Angelina Jolie, your postman, Stephen Hawking, your mother-in-law. All the same. Adrian continues:

Currently, if you have a disease you will be given a drug which works on most people but ideally in the future, you will be sequenced, they will find out what your genetic variance is (so where it is that you are different from everyone else) and then they will start designing drugs and treatments that will work especially for you. That’s a few years away, but 10 years ago this sequencing was costing $1billion for one individual and then last year Illumina reduced that cost to $1,000. One day, every GP will have a sequencing instrument in their surgery.

Repositive is on a crusade to make this amazing idea a reality much faster. Adrian says:

There is a lot of data out there but it’s not enough. We need to create a huge knowledge-base of the existence of genomic data at first that will lead to more knowledge exchange, and that is what we are trying to build. Once we have that, the opportunities for it are immense.

So, if you’ve been collecting loads of genomic data that is consented for research use, please make sure you make it visible for the research community. Head to this website to find out more –