Clinical OMICS

MAR-APR 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 24 of 51 March/April 2019 Clinical OMICs 23 What are the most significant advances in precision medicine over the past five years? Birney: Technology advancements have been pushing us to create clinical utility for all the different types of molecular data that is becoming available. This includes genomics, transcriptomics, metabolomics, and bioimag- ing. There's still a long way to go before we can smoothly string together different health data types, but we are certainly making progress. From the genomics perspec- tive, estimates show that over 60 million patients will have their genome sequenced in a healthcare context by 2025. Projects such as 100,000 Genomes in the U.K. are really paving the way for the use of genomics in the clinic, and improving how we diagnose and treat rare diseases, cancer and more. How has your work supported these advances? Birney: EMBL's European Bioinformatics Institute (EMBL-EBI) is one of the world's major sources of refer- ence molecular information. The institute has more than 200 petabytes (PB) of storage capacity, which we are continually expanding to accommodate for the storage, sharing, and analysis of data produced by life science researchers all over the world. We're also contributing our expertise in data coordi- nation and analysis to landmark scientific projects and collaborations that are redefining our understanding of biology (such as the Human Cell Atlas), and genomics (UK Biobank, CINECA). We are helping more and more organizations "make sense" of big data. We are also closely involved in the Global Alliance for Genomics and Health (GA4GH), which I chair. GA4GH aims to enable responsible genomic data sharing within a human rights framework by setting robust technical standards. GA4GH brings together more than 500 lead- ing organizations from healthcare, research, the wider life sciences and information technology, all of which are working to advance human health. What are the biggest challenges and/or opportunities that lie ahead? Birney: Responsible data access is perhaps one of the biggest concerns at the moment and it's something we need to get right from the get-go. Because the technol- ogy is moving so fast, we need to make sure that indus- try standards and legislation keeps up and preempts any potential issues. Training current and future healthcare professionals is another big challenge, but also an amazing opportunity. Clinicians, pharmacists, and other medical practitioners will have to get to grips with genomics, understand its potential, limits, and applications. Another opportunity for genomics is international collaboration. Genomics only "works" when the data- sets are very large—we're talking tens if not hundreds of millions of people—and diverse. Although national ini- tiatives are a good first step, international collaborations and secure data sharing is essential for research and for global health challenges such as infectious disease, pan- demics, and so on. What is your vision for the future of precision medicine/genomics? Birney: I believe genomics and data science are already showing their worth in day-to-day healthcare. I envi- sion genomics will become an additional tool that will help clinicians improve diagnosis and treatment deci- sions. Some diseases that we now see as complex and problematic will transform into a routine diagnosis and treatment process. There will certainly be glitches and uncertainties along the way, but the potential of genom- ics and precision medicine is significant. EWAN Birney, Ph.D. European Bioinformatics Institute—EMBL-EBI ANNIVERSARY ISSUE

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