Decreasing costs of genome sequencing have brought forward a new era for personalised genomics. In 2016, over 1 million individuals had had their genome sequenced, with over 80% of them expressing an interest in taking part in research.
Even with this abundance of genomics data, an obstacle remains to translational research: the communication between institutions and research participants is static and often unilateral.We believe that scientific research and progress in medical research should be facilitated by ease of communication between stakeholders without a third-party restricting access to invaluable data. We decided to build a tool that facilitates this communication by giving back content to users that is directly relevant to them in plain language. We hope that clarity and personalisation will sustain participation and accumulation of valuable data over time.
What it does
eXplore tailors research findings to users' individual genotypes, making research content directly relevant to them. We curate scientific reports that summarise the literature avoiding jargon and making it fully interactive. As users read through the report, they get personalised insights based on their unique DNA. We make it very easy for them to understand where they fit in and what they can learn about themselves from the research they're reading.
We use eLife Lens API to display the content in a user-friendly way so that users can browse through content seamlessly. We offer basic science explanations on any term that we think might be difficult to understand for a reader with no background in science and tailor the content to their genotype.
We use 23andme API for seamless integration of the genomic data and guarantee safety and privacy through encryption.
How we built it
The idea behind eXplore was to make genetics education and research a lot more interactive. Research is way too dry, so even though people are really interested in learning more, there is a big barrier to entry. As scientists, we loved the way the eLife Lens made scientific articles easier and more intuitive to parse through. We thought that we could re-purpose this open source project to do the same thing for public engagement with science. Instead of annotating a research article with figures and references, we used the right hand panel of the Lens format to display definitions for hard-to-understand concepts. We also added a personal element to the research being presented by taking individual genetic data (drawn from somewhere such as 23andMe) to allow the reader to check whether a particular genetic variant described in the article (e.g. one that makes coriander taste like soap) applies to them.
The main challenge was learning some node.js and the specifics of the XML format used by the eLife lens project in order to alter the code base to make this happen!
Challenges we ran into
Our team did not have experience working with node.js, so finding my way through the eLife lens API in this new language was a real challenge and kept me locked to the screen well into the night.
Accomplishments that we're proud of
Taking an open-source project and breaking it down piece by piece to add new features was really exciting. I especially enjoyed ‘learning by breaking’ by deleting parts of the code to understand what was ‘mission critical’ and what we could play with.
What we learned
Beyond navigating node.js and having fun with eLife Lens API, we learnt that there is a lot to be done on how to engage users with scientific content. It's something the three of us have felt passionate about for a long time and this hackaton has provided us to opportunity to see that it is indeed possible with a bit of work and motivation!
We really want to work on developing our content and functionalities further so that we can share our passion for genetics with a larger audience and help people realise how much they can gain from research.
What's next for eXplore
We have learnt a lot during these past two days and feel very excited about developing eXplore further. The next step for us is to integrate user feedback by integrating checkbox that encourage them to verify whether what we think we know about their genotype applies to them. In our example for taste preference, we introduce a mutation that predispose individuals to disliking coriander. We want users to be able to tick a checkbox that says "That's not true for me" and gain insights as we go.
We also want to develop a chrome extension so that when users click on references in our articles, they can directly open a PubMed or eLife article and see highlighted in blue the key points of the article and in yellow the parts that directly relate to their genotypes, without having to read the entire paper.
We also need to develop many more curated reports and we're thinking of making this an open source project for geneticists worldwide to contribute and propose research projects that users can participate to.