Appendix B
Speaker Biographies
Eric Boerwinkle, Ph.D., is the dean and M. David Low Chair of Public Health at The University of Texas Health Science Center at Houston (UTHealth) School of Public Health. He began serving as dean on January 1, 2016. Dr. Boerwinkle joined the UTHealth faculty in 1986 and served as chair of the Department of Epidemiology, Human Genetics and Environmental Health at UTHealth School of Public Health from 2003 to 2015. He has also directed the Human Genetics Center at the School of Public Health and the Brown Foundation Institute for Molecular Medicine for the Prevention of Human Diseases, which are a part of UTHealth. He holds the Kozmetsky Family Chair in Human Genetics at the School of Public Health as well.
Author of more than 800 scientific papers, Dr. Boerwinkle has led groundbreaking research on the connection between genes and health. He and his colleagues completed the world’s first genome-wide analyses for a variety of cardiovascular disease risk factors, including hypertension and diabetes. These investigations have been a critical step in developing drugs that lower disease risk.
Dr. Boerwinkle earned a Ph.D. in human genetics from the University of Michigan, Ann Arbor, where he also earned master’s degrees in human genetics and statistics. In 2003 he was the recipient of the President’s Scholar Award, which recognizes distinguished achievements in research and education at UTHealth.
Dr. Boerwinkle has served on several national research panels, including the Advisory Council for the National Human Genome Research Institute and the board of external advisors for the National Heart, Lung, and Blood
Institute, part of the National Institutes of Health. Dr. Boerwinkle has also served as an editor of several journals, including Circulation, Epidemiology, Genetic Epidemiology, and the American Journal of Epidemiology.
Rex Chisholm, Ph.D., is the Adam and Richard T. Lind Professor of Medical Genetics in the Feinberg School of Medicine and a professor of cell and molecular biology and surgery. He was the founding director of the Center for Genetic Medicine. Since 2007 he has served as vice dean for scientific affairs in the Feinberg School. In October 2012 he was also appointed associate vice president for research of Northwestern University.
A faculty member at Northwestern University since 1984, Dr. Chisholm is the author of more than 125 scientific publications. His research focuses on genomics and bioinformatics. Dr. Chisholm leads a major DNA biobanking effort at Northwestern University, NUgene. NUgene enrolls research participants in a study focused on investigating the genetic contributions to human disease, therapeutic outcomes, and gene–environment interactions. NUgene is a participant in the National Human Genome Research Institute (NHGRI)-funded eMERGE network (www.gwas.net)—a network of electronic medical record–linked biobanks. The goal of the eMERGE network project is to establish a program for genomics-informed personalized medicine in partnership with Northwestern’s health care affiliates. Dr. Chisholm is the principal investigator of dictyBase, the National Institutes of Health (NIH)-funded genome database for the cellular slime mold Dictyostelium and is an NHGRI-funded member of the Gene Ontology Consortium. His research has been supported by NIH, the American Cancer Society, the American Heart Association, and the Department of Defense.
Katrina Goddard, Ph.D., is a genetic epidemiologist who focuses on public health genomics and the translation of genetic testing into practice. She joined the Kaiser Permanente Center for Health Research in 2007.
Dr. Goddard has directed or collaborated on more than 20 federally funded research studies. She is the co-principal investigator of a study that is exploring the use of genome sequencing in the clinical context of preconception carrier screening. She also led a project implementing universal tumor screening for Lynch syndrome and a National Cancer Institute (NCI)-funded collaboration to evaluate evidence on breast cancer genomic applications. She was the co-principal investigator of the NCI-funded Grand Opportunity award CERGEN, which evaluated the cost, diffusion, and outcomes of KRAS testing to direct treatment decisions across 11 health care systems. She was also the site principal investigator for the GeneScreen pilot program which explored targeted genomic screening for medically actionable conditions in the adult general population.
Dr. Goddard was the founding director for the NW Biobank. She co--
chaired a committee to develop plans for the integration and coordination of biobanking activities across seven Kaiser Permanente regions. This planning led to the launch of the Kaiser Permanente Research Bank in 2014.
Dr. Goddard has contributed to knowledge synthesis products that have far-reaching impact for numerous national organizations. She currently directs the Knowledge Synthesis Team (KST) and co-chairs the Actionability Work Group for the ClinGen Consortium. The KST provides systematic evidence summaries on the ClinGen website for the entire genomics community.
Prior to her appointment as a senior investigator, Dr. Goddard was on the faculty at Case Western Reserve University in the Division of Genetic and Molecular Epidemiology. She was involved in several large-scale gene discovery projects there and was associate director of the Human Genetic Analysis Resource. She received her Ph.D. in biostatistics from the University of Washington and a B.S. in molecular biology from the University of Wisconsin–Madison.
Carol R. Horowitz, M.D., M.P.H., is a practicing general internist in Harlem and a health services researcher and professor in the Department of Population Health Science and Policy Department of Medicine at Mount Sinai. She uses community- and stakeholder-engaged approaches to understand and eliminate health disparities related to common chronic diseases. She co-directs Mount Sinai’s Center for Health Equity and Community Engaged Research, the Sinai Clinical and Translational Science Award’s Community Engaged Research Core; has been a principal investigator and investigator on numerous National Institutes of Health, the Centers for Disease Control and Research, and Patient-Centered Outcomes Research Institute (PCORI) grants related to chronic disease prevention and control; directs stakeholder engagement for the PCORI-funded New York City Clinical Data Research Network and chaired NHGRI’s translational genomics consortium, IGNITE, and co-chairs NHGRI’s CSER2 consortium. Dr. Horowitz has implemented and evaluated programs to improve the quality of care and the outcomes of diverse populations of adults with diabetes, obesity, cardiovascular disease, and other health conditions through clinical and community programs. She has extensive experience in multi-method (quantitative and qualitative) research, clinical research training, program and intervention development, conducting and analyzing multi-site randomized trials, and managing and working with large, transdisciplinary teams that include diverse researchers, patients, clinicians, advocates, and entrepreneurs and policy makers. She mentors students, residents, fellows, and junior faculty; serves on community boards; and is active in her local community. She has received numerous honors, including a special award from the Department of Health and Human Services for Excellence in Con-
tributions to Diabetes and the Rudin New York City Prize for Medicine and Health. Dr. Horowitz received her M.D. from Cornell University and her primary care training at Albert Einstein, and she received an M.P.H. at the University of Washington as a Robert Wood Johnson Foundation Clinical Scholar.
George Isham, M.D., is a senior advisor at HealthPartners in Minneapolis, Minnesota. As a senior advisor, Dr. Isham is responsible for working with the board of directors and the senior management team of HealthPartners on health and quality of care improvement for patients, members, and the community. Prior to his appointment as a senior advisor in 2012, Dr. Isham served as HealthPartners’ medical director and chief health officer, a position he had held since 1993. Dr. Isham is also a senior fellow at the HealthPartners Institute for Education and Research. As a senior fellow, he is responsible for facilitating forward progress at the intersection of population health research and public policy.
Dr. Isham is an elected member of the National Academy of Medicine and was designated as a national associate of the Institute of Medicine in 2003 in recognition of his contribution to its work. He is active in health policy nationally and currently co-chairs the National Academies of Sciences, Engineering, and Medicine’s Roundtable on Population Health Improvement. He is a former member of the Centers for Disease Control and Prevention’s Task Force on Community Preventive Services and the Agency for Healthcare Research and Quality’s U.S. Preventive Services Task Force, the founding co-chair of the National Committee for Quality Assurance’s committee on performance measurement, the founding co-chair of the National Quality Forum’s Measurement Application Partnership, and a founding member of the advisory board for the National Guideline Clearinghouse.
Dr. Isham completed his bachelor of arts degree in zoology and a master of science degree in preventive medicine/administrative medicine at the University of Wisconsin–Madison and his doctor of medicine degree from the University of Illinois, following which he completed his internship and residency in internal medicine at the University of Wisconsin Hospital and Clinics, in Madison, Wisconsin.
Abel Kho, Ph.D., is an associate professor of medicine and preventive medicine in the Feinberg School of Medicine at Northwestern University and the director of the Center for Health Information Partnerships within the Institute for Public Health and Medicine. His research focuses on developing regional electronic health record (EHR)-enabled data sharing platforms for a range of health applications, including tracking drug-resistant infections
and estimating population-level disease burden. Dr. Kho is a co-principal investigator and the informatics lead of the Chicago Area Patient Centered Outcomes Research Network (PCORnet), one of the Patient-Centered Outcomes Research Institute–funded clinical data research networks and also serves as a co-chair of the Data Standards, Security and Network Infrastructure Task Force of PCORnet. As a member of the eMERGE (Electronic Medical Records and Genomics) consortium, he has developed EHR-based phenotyping methods to enable high-throughput genetic studies. He maintains an active primary care practice, which guides his role as the principal investigator of the Chicago Health IT Regional Extension Center, which assists primary care practices in Chicago to achieve meaningful use of EHRs, and also guides his role leading Illinois’ involvement in the Centers for Medicare & Medicaid Services–sponsored Great Lakes Practice Transformation Network. He is the principal investigator for the Agency for Healthcare Research and Quality–funded Healthy Hearts in the Heartland consortium, which aims to test the capacity of primary care practices in the Midwest to improve the ABCS of cardiovascular disease prevention: aspirin in high-risk individuals, blood pressure control, cholesterol management, and smoking cessation.
Sara J. Knight, Ph.D., is a professor in preventive medicine, a division in the Department of Medicine at the University of Alabama at Birmingham, and is the director of the Health Services Research and Development Program at the Birmingham Veterans Affairs Medical Center. Her previous academic positions were at the University of California, San Francisco; Northwestern University; and The University of Chicago. From 2012 through 2014, she served as the deputy director of the national Veterans Affairs Health Services Research and Development Program.
Dr. Knight trained as a clinical health psychologist and health services researcher focusing on decision making in cancer care and genomic medicine. Her scientific expertise is in the use of mixed methods. She is an expert in the quantitative measurement of patient preferences and patient-reported outcomes, and she has a background in qualitative interview and group facilitation methods. She has experience working with large national administrative and clinical databases used to study access to care.
Throughout her career Dr. Knight has sought to understand patient and stakeholder values, goals, and preferences and patient-reported outcomes, especially in vulnerable and underserved populations. Her work has identified population-based preferences for genetic testing and has described the challenges in the organization and delivery of genomic medicine services in large health systems. Her recent work has explored ways to use community engagement to align the development of precision medicine services with the values and preferences of diverse communities.
Bruce R. Korf, M.D., Ph.D., is the Wayne H. and Sara Crews Finley Chair in Medical Genetics, a professor in and the chair of the Department of Genetics, the director of the Heflin Center for Genomic Sciences at the University of Alabama at Birmingham (UAB), and a co-director of the UAB-HudsonAlpha Center for Genomic Medicine. He is a medical geneticist, pediatrician, and child neurologist, certified by the American Board of Medical Genetics (clinical genetics, clinical cytogenetics, clinical molecular genetics), the American Board of Pediatrics, and the American Board of Psychiatry and Neurology (child neurology). Dr. Korf is the past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics (ACMG), and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the board of scientific counselors of the National Cancer Institute and the National Human Genome Research Institute at the National Institutes of Health. His major research interests are the molecular diagnosis of genetic disorders and the natural history, genetics, and treatment of neurofibromatosis. He serves as a principal investigator of the Department of Defense–funded Neurofibromatosis Clinical Trials Consortium. He is co-author of Human Genetics and Genomics (medical student textbook, now in its fourth edition), Medical Genetics at a Glance (medical student textbook, now in its third edition), Emery and Rimoin’s Principles and Practice of Medical Genetics (now in its sixth edition), and Current Protocols in Human Genetics.
Debra Leonard, M.D., Ph.D., is a professor in and the chair of the Department of Pathology and Laboratory Medicine at the University of Vermont Medical Center in Burlington, Vermont. She is an expert in the molecular pathology of cancer and infectious diseases and in policy development for genomic medicine. Her M.D. and Ph.D. degrees were completed at the New York University School of Medicine, where she also did her postgraduate clinical training in anatomic pathology, including a surgical pathology fellowship. She is certified by the American Board of Pathology in Anatomic Pathology and by the American Boards of Pathology and Medical Genetics in Molecular Genetic Pathology. Currently, Dr. Leonard is a member of the National Academies of Sciences, Engineering, and Medicine’s Roundtable on Genomics and Precision Health, and she previously served as a member of the Institute of Medicine’s Committee on the Review of Genomics-Based Tests for Predicting Outcomes in Clinical Trials. She is a fellow of the College of American Pathologists (CAP) and the chair of the CAP’s Personalized Healthcare Committee. Dr. Leonard is a past member of the Secretary’s Advisory Committee on Genetics Health and Society to Secretary Michael O. Leavitt and a past president and 2009 Leadership Award recipient of
the Association for Molecular Pathology. She has spoken widely on various molecular pathology test services, the future of molecular pathology, the impact of gene patents on molecular pathology, and the practice of genomic medicine.
Christine Lu, Ph.D., co-directs the Precision Medicine Translational Research (PROMoTeR) Center in the Department of Population Medicine (DPM) at Harvard Medical School. Dr. Lu leads the precision medicine and policy and the precision medicine oncology portfolios in the DPM. Her research focuses on the policy, legal, ethical, economic, and societal issues related to precision medicine, all of which have substantial impacts on the coverage and reimbursement and the clinical integration of genomic testing and sequencing. She is a multiple principal investigator of Genomics-based Technologies: Access and Reimbursement Issues. She also conducts research to assess the real-world utility of genomic testing and sequencing, including the impact of value-based contracts.
Michael Murray, M.D., is board certified in internal medicine and medical genetics, and he joined Geisinger Health System as the director of clinical genomics in 2013 after serving on the faculty at Harvard Medical School and as the clinical chief of genetics at Brigham and Women’s Hospital in Boston for 9 years. Dr. Murray earned his medical degree at Penn State Hershey and went on to do additional training at the Cleveland Clinic, University of Pennsylvania, and Harvard Medical School.
At Geisinger he has led the design and implementation of the GenomeFIRST return of results program for the more than 150,000 patient participants who undergo genomic sequencing as part of the MyCode Community Health Initiative. This project builds on the collaboration between Geisinger and Regeneron Pharmaceuticals but is funded outside of that research collaboration through internal Geisinger support, external grants, and generous donations. The GenomeFIRST return of results program expects to deliver important risk information based on genetic sequence back to between 3 and 4 percent of MyCode participants in its initial phase. These risks primarily fall into the categories of either risk for cancer or cardiovascular disease. Geisinger is the first institution in the world to build the necessary infrastructure at the scale needed to deliver this kind of genomic results to this many patients and their providers and to then assist the patients in getting their at-risk family members tested too. This program is expected to help define a best practice model for doing this new 21st-century approach to care within health care systems everywhere.
Dr. Murray was one of the principal investigators on the Boston-based MedSeq project and is an investigator in both the ClinGen and eMERGE projects. He is also the lead editor of a genomics textbook for practicing
clinicians, Clinical Genomics: Practical Applications for Adult Patient Care (McGraw-Hill, 2014).
Lori A. Orlando, M.D., M.H.S., is an associate professor of medicine, a health services researcher, and the director of the Precision Medicine Program in the Center for Applied Genomics and Precision Medicine at Duke University. She received her M.D. from Tulane University in 1998 and her M.H.S. from Duke in 2004. From 2004 to 2009 she worked with Dr. David Matchar in the Duke Center for Clinical Heath Policy Research, where she specialized in decision modeling and technology assessments. In 2009 she began working with Dr. Geoffrey Ginsburg in what is now the Center for Applied Genomics and Precision Medicine, and in 2014 she became the director of the Center’s Precision Medicine Program. Her research expertise is in decision making and implementation science as they relate to identifying and managing individuals in clinical settings who are at increased risk for medical conditions. She developed MeTree, a patient-facing family health history–based risk assessment and clinical decision support program designed to facilitate the uptake of risk-stratified evidence-based guidelines in primary care. MeTree was designed to overcome the major barriers to collecting and using high-quality family health histories to guide clinical care and has been shown to be highly effective when integrated into primary care practices. In addition, her work as the director of the precision medicine program allows her to integrate expertise from across Duke to help facilitate the translation of proven precision medicine approaches, such as technologies like mHealth, SMART-FHIR, and genomics, into clinical practice.
Josh Peterson, M.D., M.P.H., is an associate professor of biomedical informatics and medicine in the School of Medicine at Vanderbilt University. Dr. Peterson’s research interests are in precision medicine, with a focus on clinical decision support to improve drug safety and efficacy, and in the translation of genomic technologies to routine clinical care. He has led the design and implementation of multiple clinical decision support systems oriented toward geriatric patients, the critically ill, patients with acute and chronic kidney disease, and, most recently, for patients tested within a large pharmacogenomics implementation, PREDICT. He currently leads development and evaluation of PREDICT and serves as a principle investigator for a National Institutes of Health (NIH) Common Fund project to simulate the clinical impact and cost effectiveness of performing genomic panel testing across large populations over their lifetime. He is also active within a variety of NIH-sponsored research consortia including eMERGE, where he co-chairs the outcomes workgroup, and IGNITE, where he chairs the clinical informatics interest group. Dr. Peterson is the program director for the
Masters of Applied Clinical Informatics, which trains physicians and other health professionals in the field of clinical informatics.
Dr. Peterson received his M.D. through the Vanderbilt University School of Medicine in 1997 and completed an internal medicine residency at Duke University Medical Center, a fellowship in general internal medicine at the Brigham and Women’s Hospital, and a master’s of public health degree at the Harvard School of Public Health.
Bradford Powell, M.D., Ph.D., is a clinical geneticist and bioinformatician. He is an assistant professor in the Department of Genetics at the University of North Carolina (UNC) at Chapel Hill where he also directs the genetics portion of the pre-clinical curriculum for the UNC at Chapel Hill School of Medicine. As a board-certified physician in medical genetics and pediatrics, he has an active clinical practice in UNC’s adult genetics and cancer genetics clinics.
Dr. Powell’s research interests center on how genome-scale data are analyzed, communicated, and used in the clinical arena. He was an investigator in computational and clinical aspects with the North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing (NCGENES) project. NCGENES studied the yield and clinical impact of diagnostic and secondary findings of genome-scale sequencing in a broad spectrum of medical conditions. He is a co-principal investigator of the successor project, NCGENES2, which will further focus on the impact of these findings in terms of clinical utility and health care use. He is also an investigator in North Carolina Newborn Exome Sequencing for Universal Screening, a project that is studying the potential impact of genetic sequencing in newborn screening.
Dean Regier, M.A., Ph.D., is a scientist at the British Columbia Cancer Agency and an assistant professor in the School of Population and Public Health at the University of British Columbia. His research focuses on cutting-edge health economics and outcomes research, particularly as they pertain to preference-based utility elicitation and health technology assessment. His current program includes the application of stated preference discrete choice experiments to health technologies and health promotion, the microeconometric analysis of discrete choice data, and probabilistic cost effectiveness and net-benefit analysis. He is particularly interested in applying preference-based techniques to estimate the personal utility and net benefit of genomic testing as it pertains to the “value of knowing,” i.e., how genes may play a role in our personal lives and how patients trade among benefits, risks, and scientific uncertainties when making a treatment decision.
Richard Turner, M.A. (Cantab), M.B.B.Chir. (Cantab), MRCP(UK), is a specialist registrar in clinical pharmacology and therapeutics (CPT) with a deep interest in pharmacogenomics and precision medicine. He graduated in medicine in 2010 from the University of Cambridge. He completed his foundation training in the East of England deanery between 2010 and 2012, which included a CPT academic component investigating the pharmacogenomics of fluoropyrimidine toxicity. Dr. Turner moved to Liverpool in 2012 after being awarded a National Institute for Health Research academic clinical fellowship in CPT. During his 2 years as an academic clinical fellow he completed core medical training and was involved in a large cardiovascular pharmacogenomics study. From 2014 to 2017, Dr. Turner undertook a sustained period of doctoral research as a Medical Research Council (MRC) fellow on the North West England MRC CPT fellowship scheme, investigating the pharmacogenomics of statin-induced muscle toxicity. He has recently been awarded a Health Education England Genomics Education Programme Genomics Research and Innovation Fellowship, which will run over the next 4 years (2018–2021) alongside his continued National Health Service clinical commitments.
