Nick Lench, PhD, Chief Scientific Officer at Congenica
It’s been a year dominated by a global pandemic, the likes of which we haven’t seen in over 100 years. It’s been full of heartbreak and uncertainty. But it’s also been a year of heroism, where healthcare workers have fought valiantly to save the lives of those infected with the virus.
It’s also shown that when we have to, we can collaborate internationally and achieve amazing results in timescales people would previously have thought were impossible.
2020 was a year dominated by COVID - our first instinct at Congenica was to think how can we help to make a contribution?
At Congenica, we realised early on that we could provide most value to the research community by adapting our genomic data analysis platform to help researchers use human genome data to better understand why people have such different responses to the disease.
This led to the launch of our COVID-19 module that enables researchers to investigate genes involved in the host response to SARS-CoV-2 infection with a high-degree of confidence. Longer term, we want to be able to expand the module to provide individual risk stratification profiles and provide relevant pharmacogenetic information to individuals pre-emptively, focusing on anti-thrombotic drugs.
While there have been a lot of positives in the MedTech sector’s response to the pandemic, it’s hard not to be concerned that funding has been provided for COVID research at the expense of research into other common diseases that have a significant health and economic burden. We’ve also seen charities struggle to maintain their level of donations to fund research in the face of the pandemic.
Data at scale
As we move forward into 2021 it’s clear that there will be more and more large datasets across the world being shared and more population scale genomic projects such as the EU Million Genomes Project and the NIH All of US Research Program in the US. Along with UK Biobank, these large-scale population health programs will lay the foundation for determining polygenic risk scores for common disorders such as cancer and cardiovascular disease that will enable us to stratify patients into healthcare pathways.
There is also a lot of excitement and expectation around the launch of the NHS England Genomic Medicine Service, pioneering the use of whole genome sequencing as part of a national healthcare system. Congenica is extremely proud to be a key delivery partner for the service providing its clinical decision support platform to support Genomics England in the diagnosis of patients with inherited and de novo genetic disorders.
We’ve had a lot of wins at Congenica this year, notably completing our Series C funding round in what was a very challenging environment. That validation of the hard work that all the team has put in is fantastic, and to be recognised as one of the leading lights in genomics both in the UK and around the world is truly rewarding.
From a scientific perspective, we’ve also been involved with producing a significant number of high quality, peer reviewed publications along with thought-leading webinars and whitepapers. Highlights include “Whole-Genome Sequencing of Patients with Rare Diseases in a National Health System” (Nature 583:96) which was cited by the American Journal of Human Genetics as one of the most significant advances in genomic medicine in 2020.
What does the future hold?
As we move into 2021, many of the key trends from 2020 will continue, with COVID-19 research and mass vaccination programmes dominating the landscape. Against this background, it will be important not to lose sight of the need to provide ongoing education to health workers about the benefits of genomic medicine and accelerate mainstreaming genetic testing into specialties such as paediatrics, neurology, cardiology and metabolic medicine.
We’ll also see increased calls to broaden access to genetic testing to ensure testing can be completed within shortened timeframes. In addition, we’ll also see more calls for increased data sharing as evidenced by our work with the World Economic Forum. Sequencing technology will continue to advance, and we will see the increasing uptake of long read technologies providing us with a deeper understanding of genomic architecture.
As access increases to genomic testing and the number of case referrals increases, we’ll encounter shortages of trained clinical scientists that can analyse the large volumes of data being produced. In turn, this will lead to increased moves towards automated classification of sequence variants using machine learning to streamline workflows and save time. This should be implemented as an augmented intelligence approach rather than a black box artificial intelligence solution. Congenica has a number of exciting innovations coming in 2021 that will augment our gold standard clinical decision platform for genomic analysis at scale.