Nightingale was in attendance at the UK Biobank Scientific Conference in London, an annual highlight in the biomedical research calendar, to hear from researchers at the frontline of utilizing UK Biobank data in their studies to uncover novel insights into human health. Our Scientific Director, Dr Peter Würtz, was invited to present Nightingale’s biomarker profiling technology at the conference.
The UK Biobank is the world’s most detailed public health database. Starting in 2006, the long-term biobank study of the British population follows half a million volunteers, enrolled at ages from 40 to 69 years old. Study participants have contributed extensive health measurements (such as physical activity monitors and whole-body imaging), along with urine and blood samples, as well as consent to access their medical health records. Information on all 500,000 subjects is compiled in a database that is made accessible to biomedical researchers around the world through an application process. Last year, the UK Biobank released the largest resource of genomic data ever compiled to scientists running 406 research projects, accelerating breakthroughs in our understanding of the relationship between genetics and chronic diseases.
The UK Biobank Scientific Conference is a highly anticipated opportunity to discuss news of future developments that will further enrich the resource. This year’s conference in London was particularly informative, with major keynote talks from some of the biggest names in epidemiology. In the afternoon session, Nightingale announced that we will be starting a major initiative to analyze 500,000 UK Biobank blood samples. The biomarker profiling will be completed in 30 months. By measuring metabolic biomarkers that recent studies have found are predictive of future risk for heart disease, type 2 diabetes (and many other common chronic diseases), and combining them with the other data available in UK Biobank resource, this major metabolomics initiative has the potential to supercharge medical research.
“What is the challenge of realizing personalized medicine? In order to understand what different molecular measures are doing for the individual, we need to first profile the molecular data at a very large scale – for example studies at the scale of the UK Biobank. Only then, can we understand what all the molecular measures are doing and convert this back to into relevance for the individual patient,” said Dr Peter Würtz, Nightingale’s Scientific Director. “Why is Nightingale so excited to embark on this initiative with UK Biobank? Well, we are specialized in metabolic profiling based on NMR metabolomics. This technology has already been widely used in research studies throughout Europe, but by going to the scale of profiling the entire UK Biobank we will take these possibilities to the next level. The scientific opportunities are endless. They span from biomarker discovery to a better understanding of disease mechanisms, all the way towards health tracking and realizing the promise of precision medicine. Nightingale looks forward to work closely with the biomedical research community to realize this goal.”
An inspiring recap of current UK Biobank developments by Sir Rory Collins (UK Biobank Principle Investigator & BHF Professor of Medicine & Epidemiology, University of Oxford) who opened the conference by asking what can be done to make the resource even more useful to the research community.
A detailed overview of which researchers are using UK Biobank data and what types of projects they are leading by Professor Naomi Allen (UK Biobank Senior Epidemiologist, University of Oxford). Since 2012, there are 7,500 approved researchers using the UK Biobank resource (68% of who are international) from 750 Institutions. This work has resulted in over 400 research papers and 3,700 citations.
Professor Sekar Kathiresan (Co-director, Program in Medical & Population Genetics, Broad Institute) drew on his experiences of working with existing UK Biobank genotype data to elucidate how to maximise use of this data to strengthen the evidence for taking genomics to widespread use in cardiovascular medicine. “The key public health need is to identify individuals at high risk for disease. Since most diseases have an inherited component there’s an idea to use inherited DNA variation to stratify individuals at risk for disease. Historically, if you take disease like myocardial infarction, rare monogenic mutations have been the basis for stratifying individuals.” Professor Kathiresan detailed his team’s research that uses a genome-wide polygenic score (including 6.6M SNPs) to identify individuals at risk of myocardial infraction. The top 5% of the polygenic risk score was found to have equivalent risk to a monogenic mutation analysis, with the polygenic risk being modifiable through lifestyle interventions and existing medications.
The conference closing remarks by Dr Jeremy Farrar (Wellcome Trust Director): “The vision of UK Biobank was ahead of its time and sets the global standard… This data set is the envy of the world, I can’t wait to see the progress in human health it will deliver.”