Expert Panel Discussion on Population Scale Genomics

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Virtual event exploring initiatives that are enabling scientific discoveries and improving public health

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As a result of the advancements in technology and the reduced cost of gene sequencing, precision medicine is on the precipice of rapid expansion. This growth is expected to be especially true for population-scale genomic sequencing and related initiatives.

To reflect on the multitude of population-scale genome-sequencing efforts both in the U.S. and internationally, the Center for Connected Medicine (CCM) hosts an expert panel discussion on population scale genomic initiatives. The virtual event provides analysis on how these initiatives have made clinical and scientific impact, and to explore the wider implications on communities and institutional population health efforts.

Learn more about the Precision Medicine World Conference East on Sept. 23-24, 2021

Expert panelists

  • Adrian Lee, PhD, Director, Institute for Precision Medicine, University of Pittsburgh and UPMC (Moderator)
  • Mark Effingham, PhD, Deputy CEO, UK Biobank
  • Joseph Grzymski, PhD, Director, Renown Institute for Health Innovation; Chief Scientific Officer, Renown Health; Research Professor, Computational Biology and Genetics, Desert Research Institute
  • Heidi Rehm, PhD, Chief Genomics Officer, Massachusetts General Hospital

Download the “Genomic Data in Health Systems” research report

Learning objectives for Population Scale Genomics

The virtual discussion aims to garner insights from leading experts in the field and share key learnings from their respective experience leading population scale genomic initiatives. Through panelists’ insights and experiences, the audience will learn:

  • How effective population genomic initiatives are designed and executed
  • The impact on health care innovation, specifically in terms of clinical and technological contributions
  • Insight to the future role of genomics in health care innovation
  • Broader implications for local communities and society

Executive Outlook: Genomic Data in Health Systems, with Matthias Kleinz of UPMC Enterprises

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Meet the expert panelists

Mark Effingham, PhD, Deputy CEO, UK Biobank

Dr. Mark Effingham is Deputy CEO of UK Biobank, a large-scale biomedical database and research resource containing in-depth genetic and health information from half a million UK participants. The database, which is regularly augmented with additional data, is globally accessible to approved researchers and scientists undertaking vital research into the most common and life-threatening diseases.

Dr. Effingham joined UK Biobank from industry, having spent nearly 20 years working with a variety of organizations across health care and life sciences. At UK Biobank, he has played a key role in supporting large scale sample access projects that are turning valuable biological samples into reusable data, and has led recent efforts to establish platform access to enable UK Biobank’s increasingly large database to be accessed more readily by a wider range of researchers around the world.

He is a Chartered IT Professional and Fellow of the British Computer Society, and he holds a PhD and MSc from the University of Birmingham.

Joseph Grzymski, PhD, Chief Scientific Officer, Renown Health

Dr. Joseph Grzymski serves as a Director of the Renown Institute for Health Innovation; the Chief Scientific Officer for Renown Health; and a Research Professor in Computational Biology and Genetics at the Desert Research Institute (DRI). Dr. Grzymski is the Principal Investigator of Healthy Nevada Project, a community-based population genetics program located in northern Nevada.

He is responsible for developing new applied research initiatives at DRI and has helped expand DRI’s expertise and presence in data analysis, statistics, bioinformatics, molecular biology, public health, business development, and visualization. He works closely with the Nevada Governor’s Office of Economic Development. cares deeply about improving health, wellness, and social capital in Nevada. His academic research over more than 20 years spans genetics, biophysics, informatics and molecular biology.

He received his B.A. in Philosophy and Biology at Bowdoin College, his Ph.D. from Rutgers University and was a Fulbright Scholar studying mathematical ecology. As the CSO of Renown Health, Dr. Grzymski helped launch a large liver disease genetics study in partnership with the pharmaceutical company, Gilead Sciences.

Adrian Lee, PhD, Director, Institute for Precision Medicine

Dr. Lee is Director of the Institute for Precision Medicine (IPM), a joint effort by UPMC and the University of Pittsburgh to move biomedical research into personalized well-being and clinical care.

Dr. Lee was recruited to the University of Pittsburgh in 2010 where he is a Professor of Pharmacology & Chemical Biology, and Professor of Human Genetics. Dr. Lee received B.Sc. and Ph.D. degrees in England, and came to San Antonio, Texas for his postdoctoral studies. He was subsequently recruited to Baylor College of Medicine and now the University of Pittsburgh. Since his recruitment to the University of Pittsburgh in 2010, Dr. Lee has had a key role in shaping precision medicine research at the University of Pittsburgh and personalized care at UPMC. An example of the early progress in precision medicine at Pitt and UPMC is research and implementation of pharmacogenomics, and development of computational systems and architecture for sharing of clinical and genomic data both at the University of Pittsburgh and in the UPMC healthcare system.

The goal of Dr. Lee’s laboratory is to translate basic cell and molecular research findings into the understanding and treatment of breast cancer. This includes studies on the role of insulin-like growth factors in breast cancer, and identification of biomarkers for this targeted therapy. Dr. Lee has examined the effect of intratumor heterogeneity on prognostic tests in breast cancer, and is currently leading an effort to sequencing metastatic breast cancers to identify vulnerabilities for novel precision therapies.

Dr Lee has published over 120 peer reviewed research articles.  His laboratory is also supported by funding from the Department of Defense, Susan G. Komen for the Cure, Breast Cancer Research Foundation, and other sources. Dr. Lee is on the Scientific Advisory Council for Susan G. Komen for the Cure. Dr. Lee serves on numerous national peer-review committees, and is on the Editorial Board’s of several journals.

Heidi Rehm, PhD, Chief Genomics Officer, Massachusetts General Hospital

Dr. Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital where she works to integrate genomics into medical practice. Dr. Rehm is a board-certified laboratory geneticist and Medical Director of the Broad Institute Clinical Research Sequencing Platform, working to guide genomic testing for clinical and clinical research use. She is also Co-Director of the Program in Medical and Population Genetics at the Broad Institute and Professor of Pathology at Harvard Medical School.

Dr. Rehm is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. She also co-leads the Broad Center for Mendelian Genomics focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to also aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as vice chair of the Global Alliance for Genomics and Health. Dr. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the U.S. and co-leading gnomAD, the Genome Aggregation Database.

Dr. Rehm received her bachelor’s degree from Middlebury College in Molecular Biology and Biochemistry. She completed her PhD in Genetics at Harvard University studying the genetic and pathological basis of Norrie Disease, a deaf-blindness syndrome, and served as a postdoctoral fellow at Massachusetts General Hospital and Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss. She also completed a fellowship in Clinical Molecular Genetics at Harvard Medical School followed by board certification by the ABMGG.

More resources related to genomics and precision medicine from the CCM

Download the report, “Genomic Data in Health Systems: Survey results on the importance of an enterprise-wide strategy

Read insights from UPMC’s Chief Medical Information Officer in, “The Plan for Genomic Data: Consumable, Integrated, Enterprise-Wide

See 10 findings from the genomic data management research by downloading the infographic, “Harnessing Genomic Data in Health Systems

Precision medicine was one of three key priorities areas for health systems identified by the CCM’s “Top of Mind for Top Health Systems 2020” report

Primary care physicians need greater education on genomics, Dr. Mylynda Massart says

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