We were very excited to attend the Festival of Genomics London last week. It’s been our second time at the Festival, and just like last year, the event was filled with fascinating talks, stimulating workshops and people standing at the forefront of the genomics revolution.
Here are our chosen highlights of the festival:
“We don’t have a plan B”
The festival opened with a presentation by Sue Hill, Chief Scientific Officer for NHS England. During her talk, Professor Hill discussed the drivers of change pushing genomic medicine forward, such as demographics, people’s expectations and the pace of scientific progress, as well as the challenges faced by the NHS, such as care and quality gap, improving data integration and introduction of multi-professional working system.
We learned that in the future, the NHS will be going in two directions. One is personalised care and recognising that the “one size fits all” solutions are not the way forward. The second one is population health: improving prevention and screening, and enhancing prediction.
Key message that we took away from this talk, was the importance of informatics in combining various data (genomics, proteomics, metabolomics) to objectively define disease phenotypes and shift from late to early diagnosis, when interventions are still likely to affect the outcome of the disease. Currently, we have access to more information that is actionable today, but we’re optimistic that it will change soon!
100K Genomes Project and the Qatar Genome Project
We also had a chance to listen to the talk by Said Ismail, the Qatar Genome Programme Manager, who discussed the progress of the project and compared it to the 100K Genomes project by Genomics England. Whilst the latter focuses on inherited rare diseases and cancers, the Qatar Genome project takes a population-based approach. It was interesting to observe the common challenges and strategies shared by them, and the specific bioinformatics applicable to each: for example the high-consanguinity level among the Qatari has a potential to reveal interesting population-based genetics.
From a bicycle to a space rocket
Nazeen Rahman from the ICR discussed the promise, the progress and the pitfalls of making genetic medicine work. One of the pitfalls she mentioned was the need for new ways of looking at genetic medicine. Using a transport metaphor, Professor Rahman explained, that instead of upscaling old processes to adapt to the technological advancements (just like adapting bicycle paths for space rocket use), we should challenge ourselves to develop new processes and new ways of thinking.
One of our favourite talks was by Vitor Pinheiro, who talked about his work in synthetic biology and discussed the frontiers of genetic engineering: being able to create “life” which is not based on DNA or RNA, but rather “Xeno nucleic acid”. He also debated the potential applications to medicine and to the containment of GM organisms, which could be manufactured in a way genetically incompatible with the existing biosphere.
During the talk, we also learned about Vitor’s experience in using directed evolution as a tool for rapid trait selection – an area with possible applications of data science to represent and analyse evolutionary trees in the context of bioengineering.
“Most challenges in research fail because of data management”
Ewan Birney (Director of EMBL-EBI) talked about the opportunities and challenges of applying genomics to healthcare. He started by first describing how we’re now starting to see a shift in the Big Data era towards real time, in field, molecular measurement. He then discussed the opportunities of the blurring boundary between research and clinical care, and the challenge associated with how the healthcare sector handles data: with datasets not being open and no scalable systems in place to manage and analyse big data. He concluded that the solution is to move analysis to data, and have standards that link data to analysis.
Mapping the cancer origins
Richard Gilbertson, the director of the Cambridge Cancer Centre, talked about how stem-cell mutagenesis and extrinsic factors that affect them, ultimately determine organ cancer risk. By using Prom1 marker molecule to track cell division activity in mice, they found that mutations in actively dividing stem cells lead to cancer. Furthermore, they found that tissue damages can reactivate ‘sleeping’ stem cells to divide and increase cancer risk. Importantly, he discovered that juvenile stem cells may display intrinsic resistance to cancer (through the study of stem cells in newborn mice), thus explaining why children have much lower cancer rates than adults.
Painting the full picture of variation across human genomes
Steve Picton discussed how the decrease in cost of PacBio sequencing has enabled its application to the detection of structural variants in humans, which could otherwise not be captured with short-read sequencing.
While most of the attention on human variation so far has been on SNPs, it has been estimated that they only account for 25% of the differences existing between individuals.
Thus, combining low-depth PacBio sequencing with short-read sequencing proves to be an efficient approach in order to paint the full picture of variation across human genomes.
It takes 20 years
Last, but not least, we had a pleasure of listening to Sir John Bell and his view on how genomic medicine is shaping 21st century healthcare. His talk left us feeling hopeful – according to Sir John, it takes 20 years from the moment when scientists say that a particular discovery will be revolutionary to medicine to the time when we actually see that discovery influencing healthcare – it was the case for monoclonal antibodies, stem cells and it will be the case of genomic medicine. Luckily, we’re approaching the 20 year mark now, and we should see the real impact of genomic medicine on our healthcare system anytime now.
Overall, the Festival was a very stimulating event that sparked many thoughts and discussions. We’ve already reserved our spot for FoG 2018!
The next conference we are attending is the Molecular Med Tri-Con 2017 in San Francisco. We look forward to seeing you there! Visit us at our booth #316 to talk about our platform and discuss any bioinformatics challenges you’re facing.
See you soon!