#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 the Scientific Advisory Board for the European Nucleotide Archive, and has recently Co-Chaired a Pan-Canadian Cohorts Working Group. A fellow of the Royal Society of Canada, her awards include a TR100 award from MIT, Thompson Reuters “World’s Most Influential Scientific Minds”, and recently a Distinguished Alumni Award from the University of Waterloo and SFU Distinguished Professorship. Her interests include developing more preventative, sustainable approaches for disease control, using microbiome data as a sentinel for animal or ecosystem health, and factoring in Indigenous Science approaches.

 

Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has over a decade of podcast experience fueled by a passion for science communication. She has hosted and/or produced 7 podcasts including four rare disease/genetics shows. Her main genetics podcast, DNA Today, is in the top 1% of podcasts globally. The show has won the Best Science and Medicine Podcast Award for three years running, among others. DNA Today has produced 250 episodes and counting with support from over 50 sponsors. She was accepted into The Podcast Academy and previously served on NSGC’s Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science at Sarah Lawrence College and is a licensed certified genetic counselor currently practicing prenatal in Connecticut.

 

In this panel discussion, an international panel of leaders at the forefront of genomics discuss:

• The optimal utilization and collection of genomic data
• Challenges to applying population genomics in clinical care
• The ethical considerations of data sets and methods to improve diversity
• Advancing clinical care through delivery models, channels, and technologies
• Best practices for leveraging population genomics in routine clinical care

 

If you want to hear more from Dr. Eric Green, check out his other two episodes on DNA Today: #182 about the complete human genome project and #214 recapping top genetic stories of 2022.

 

If you want to hear Dr. Julian Barwell discuss the 100,000 Genomes Project, listen to Episode 208 of DNA Today. 

 

Over the years we have shared multiple episodes of the PhenoTips Speaker Series, we recommend checking out all 25 episodes on their own podcast feed including Spotify and Apple Podcasts by searching “PhenoTips Speaker Series”. And our host Kira Dineen is the host of most of these installments!

 

Stay tuned for the next new episode of DNA Today on Friday November 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

 

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.

 

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