#260 PhenoTips: Population Genomics in Clinical Practice

We are sharing the twenty-fifth installment of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen. She interviewed a panel of international industry leaders in clinical genomics, Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman, discuss the benefits, roadblocks, and practical implications of applying population genomics in clinical practice.

Applying population genomics in clinical practice has the potential to revolutionize healthcare by enhancing disease prediction, enabling personalized medicine, and advancing medical research. By leveraging the wealth of genomic information available, clinicians can provide more targeted and effective treatments, ultimately improving patient care and outcomes. However, essential concerns such as ethical considerations, data privacy, and the responsible use of genetic information, must be addressed as population genomics becomes an increasingly integral part of modern medicine.

Dr. Eric Green is the third appointed director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Appointed director by Dr. Francis Collins in 2009, Dr. Green has been at the Institute for more than 25 years, during which he has held multiple key leadership roles. He served as the Institute’s scientific director for 7 years, chief of the NHGRI Genome Technology Branch for 13 years, and founding director of the NIH Intramural Sequencing Center for 12 years. For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project and groundbreaking work on mapping, sequencing, and characterizing mammalian genomes. During his career, Dr. Green has authored and co-authored over 385 scientific publications.

Dr. Julian Barwell is a consultant in clinical genetics at the University Hospitals of Leicester with a particular interest in public engagement, stakeholder group co-creation, and the implementation of genomic medicine projects. His outreach work includes launching the cancer genomics branch of the 100,000 genome project on the BBC Breakfast sofa, co-authoring the children's book, “What is DNA?”, as well as answering clinical queries for the National Hereditary Breast Cancer Helpline. In addition to his over 70 academic publications and chapters in four other books, he has helped establish prostate cancer tumour sequencing for BRCA pathogenic variants and led an awareness and outreach campaign for men at high risk of aggressive disease. Currently, Dr. Barwell is developing a digital genomic strategy including patient self-navigation guides for patients with Lynch syndrome, aiming to expand this to other patient groups. He is also developing an interventional research strategy and holistic care clinic for Fragile X syndrome in partnership with the Fragile X Society and Research Space, a clinical research facility he co-established. As a Professor at the University of Leicester, Dr. Barwell lectures on inherited cancer susceptibility, cancer genomics, bioethics, 21st-century healthcare, and working with different types of media.

Dr. Fiona Brinkman is a Distinguished Professor in Bioinformatics and Genomics at Simon Fraser University, most known for R&D of widely used software that aids more integrative, systems-based analyses of microbe and human genomics/transcriptomics data. She leads CHILDdb data integration, enabling more integrative analysis of diverse CHILD Cohort Study data, as well as co-leading development of the IRIDA platform, which is now used as the primary platform for Canada’s Public Health Agency to track infectious disease outbreaks using combined epidemiological, lab and genomics/metagenomics data. Dr. Brinkman enables better genomic data sharing in an ethical framework by co-coordinating two large consortiums consisting of researchers from 15 countries. Dr. Brinkman serves on several committees and Boards, including th