Appendix B

Speaker Biographies

Euan Ashley, B.Sc., M.B. Ch.B., FRCP, D.Phil., FAHA, FACC, FES, is associate dean and professor of medicine and genetics at Stanford University in California. Over the last decade his team has focused on the application of the human genome to medicine. He was recognized by the Obama White House for his contributions to personalized medicine and awarded the American Heart Association Medal of Honor for Genomic and Precision Medicine. His book, The Genome Odyssey—Medical Mysteries and the Incredible Quest to Solve Them, was released in 2021. He is cofounder of three companies: Personalis, DeepCell, and SVEXA.

Kellan Baker, Ph.D., M.P.H., M.A., is the Executive Director of Whitman-Walker Institute, the research, policy, and education arm of Whitman-Walker, a community health system in Washington, D.C., that also includes Whitman-Walker Health, a Federally Qualified Health Center. Kellan is a health services researcher, educator, and health policy professional with wide expertise in health equity research and policy, particularly with regard to LGBTQ populations. He is a frequent advisor for government and private entities, and he currently serves as an appointed member of a National Academy of Sciences consensus study committee that developed standards for the collection of sex, gender identity, and sexual orientation data by the National Institutes of Health. Kellan holds appointments as affiliate faculty in the Departments of Health Policy and Management at the George Washington University and the Johns Hopkins School of Public Health, and he received his Ph.D. in health policy and management from Johns Hopkins, where he was a health policy research scholar and Centennial Scholar; an M.P.H. and

M.A. from George Washington University; and a B.A. with high honors from Swarthmore College.

Amy Compton-Phillips, M.D., is an internationally respected physician, executive, innovator, and author. In October 2022, she became chief clinical officer at Press Ganey, focusing on simplifying health and care. Until September 2022, Amy was president of clinical care at Providence, responsible for clinical operations and care, including improving health, care, and value outcomes delivered by the 52 hospitals, 1,085 clinics, and 120,000 caregivers of the $25 billion health system. She was instrumental in Providence’s early adoption and scaling of technology advancing the future of health care. Before joining Providence in 2015, Dr. Compton-Phillips spent 22 years at Kaiser Permanente, moving from a frontline internist to ultimately serving as chief quality officer.

Tshaka Cunningham, Ph.D., is Cofounder and Chief Scientific Officer of Polaris Genomics Inc., an emerging biotechnology company using genomics and precision medicine to improve diagnosis and treatment of mental and behavioral health conditions. Dr. Cunningham, a graduate of Princeton University, received his Ph.D. in molecular biology from Rockefeller University and completed his postdoctoral training at the Pasteur Institute in Paris, France, and at the National Institutes of Health in Bethesda, Maryland. He previously worked at the Department of Veterans Affairs overseeing a federally funded national research program in aging and neurodegenerative disease and served as a subject matter expert for the VA’s Genomic Medicine Implementation Program. Motivated by the timely need for advancements in diversity and inclusion in precision medicine while at the VA, Dr. Cunningham cofounded and serves as the Executive Director of the Faith-Based Genetic Research Institute, a community-based nonprofit organization dedicated to improving people’s lives through the power of genomics and precision medicine. A leading voice in advocating for diversity and representation in the field of genomics, Dr. Cunningham also serves as a board member of the Future Kings and Queens of STEM biomedical program, a STEM-focused nonprofit organization for youth from underserved communities in the DC area.

Greta L. Goto, M.B.A., is an advocate, legal guardian, representative payee, and parent to a young adult who lives with Prader-Willi Syndrome; parent to a neurotypical young adult; and wife to an accomplished seafood quality assurance manager in Alaska. In her day job, Greta is a part-time research aide with the Alaska Center for Climate Assessment and Policy. She also serves as vice chair of the board of directors for the Bristol Bay Native Corporation and as cochair of the National Human Genome Research Institute

Community Engagement in Genomics Working Group. Her professional career is grounded in nonprofit and business administration, community outreach, research and project development, strategic planning, board, and committee work. Greta is a founding member of the Prader-Willi Syndrome Alaska Parent Group and a member of Prader-Willi Syndrome Association USA. She is a graduate of Georgetown University and received her M.B.A. from the University of Alaska Anchorage.

Lee H. Hilborne, M.D., M.P.H., is a professor of pathology and laboratory medicine at UCLA and served as a member of the American Society for Clinical Pathology Board of Directors for 18 years and was president from 2007 to 2008. He chairs the ASCP Effective Test Utilization Subcommittee and is a member of the Commissions on Membership and Public Policy. Dr. Hilborne is also Senior National Medical Director at Quest Diagnostics and has held multiple positions since joining Quest Diagnostics in 2008. For 5 years Dr. Hilborne was medical director, Southern California, before assuming the role of senior medical director within Medical Affairs. Dr. Hilborne has given hundreds of invited presentations nationally and internationally and has well over 100 publications in peer-reviewed journals. For 10 years Dr. Hilborne was Director of Quality Management Services and Associate Director at UCLA Health, responsible for, among other areas, quality of care and patient safety, medical staff functions, utilization review, and medical coding. He served on several federal committees, including Medicare’s Ambulatory Payment Classification Advisory Committee and the Clinical Laboratory Improvement Advisory Committee (CLIAC) and is a current member of CLIAC. He was the American Hospital Association’s representative to the AMA’s CPT Editorial Panel and now serves as ASCP CPT Advisor to the AMA CPT Editorial Panel and as cochair of the Proprietary Laboratory Analysis Technical Advisory Group (PLA-TAG).

Karen Kaul, M.D., Ph.D., is chair of the Department of Pathology and Laboratory Medicine at NorthShore and is a clinical professor of pathology at the University of Chicago’s Pritzker School of Medicine. Dr. Kaul is board certified in Anatomic Pathology and Molecular Genetic Pathology. Following a postdoctoral fellowship at the National Cancer Institute and pathology residency training at Northwestern, Dr. Kaul established one of the earliest molecular diagnostics laboratories in the United States; she and her lab have been deeply involved in the development of laboratory tests for cancer, heritable conditions, microbial diseases, and antimicrobial susceptibility. She has been significantly involved in education, regulation, and standardization of the practice of molecular pathology, and has served on FDA, CLIAC, Medicare Evidence Development & Coverage Advisory

Committee, and other panels, and testified before the Senate HELP committee on laboratory developed testing procedures in 2016. She is a past president of the Association for Molecular Pathology and served as Editor in Chief of the Journal of Molecular Diagnostics until 2010. She is the recipient of the 2008 Association for Molecular Pathology Leadership Award. She was an ELAM (Executive Leadership in Academic Medicine) fellow in 2011–2012. In 2011, she was appointed a Trustee of the American Board of Pathology (ABP) where she is involved in professional examination and certification efforts, and is the past president of the ABP. She also served on the Accreditation Council for Graduate Medical Education Residency Review Committee for Pathology and Milestones committees and currently leads the Association for Pathology Chairs GME committee. Dr. Kaul served as residency program director for 18 years and served on Residency Program Directors Section council before becoming departmental chair in 2012. As chair, she has led departmental efforts to improve laboratory efficiency and utilization and maximize the impact of the laboratory on clinical care. She continues to practice and advocate for molecular pathology.

David H. Ledbetter, Ph.D., FACMG, is Chief Clinical and Research Officer, Unified Patient Network, Inc. After serving as Executive Vice President and Founding Chief Scientific Officer at Geisinger for 10 years (2010-2021), Dr. Ledbetter assumed the role of Chief Clinical and Research Officer at Unified Patient Network, Inc., a start-up company building a massive precision medicine database across multiple health care systems linking patient EHR and other clinical data sets to clinical whole genome sequence data. Previously he held academic and leadership positions at Emory University, the University of Chicago, and Baylor College of Medicine. He is a graduate of Tulane University and earned his Ph.D. at the University of Texas-Austin. Dr. Ledbetter is an internationally recognized expert in genomics and precision medicine, with a special interest in autism and other pediatric brain disorders. After his discovery of the genetic causes of Prader-Willi syndrome (deletion chromosome 15; 1981) and Miller-Dieker syndrome (deletion or point mutation of a gene on chromosome 17; 1983) early in his career, he has focused his research efforts on discovering the genetic causes of childhood neurodevelopmental disorders such as autism, and the translation of new genomics technologies into clinically useful genetic tests for early diagnosis and intervention. At Geisinger, he led the development of the largest DNA-sequenced patient cohort in the United States, second only to the UK Biobank in the world. His current research interest includes implementation science efforts to move genomics and precision medicine into routine patient care to optimize prevention, early diagnosis, treatments, and outcomes across all clinical disease areas.

Mylynda B. Massart, M.D., Ph.D., is a board-certified family medicine physician at UPMC, and assistant professor at the University of Pittsburgh. She serves as the founder and Medical Director of the UPMC Primary Care Precision Medicine clinic, and as the Associate Director of Clinical Services for the Institute for Precision Medicine. Dr. Massart is codirector for the HUB Core over Research Inclusivity and Community Partners Core at the Clinical and Translational Science Institute (CSTI). Her research interests are in developing education in genetics and precision medicine for primary care providers and trainees and to be a research catalyst facilitating the inclusion of underrepresented populations in biomedical research. She teaches residents and medical students in her clinic and at the hospital and serves as medical director for Bethany Hospice. Currently, Dr. Massart is one of the co-investigators for the All of US Pennsylvania research project working on community education and engagement. In addition, she is working as co-investigator to create the local Discovery Biobank at the University of Pittsburgh and developing systems to return precision medicine results to providers and patients. Dr. Massart is the principal investigator for the NIH Community Engagement Alliance (CEAL) Consultative Resource (CEACR) team.

Kara Maxwell, M.D., Ph.D., is an assistant professor in the Department of Medicine, Division of Hematology/Oncology and the Department of Genetics at the University of Pennsylvania School of Medicine and a Staff Physician at the Corporal Michael Crescenz Veterans Affairs Medical Center. She completed her bachelor of science with a dual major in genetics and biochemistry at the University of Wisconsin-Madison and completed her M.D.-Ph.D. at the Weill Cornell Medical College and Rockefeller University. Dr. Maxwell performed her doctoral training with Dr. Jan Breslow at the Rockefeller University in the field of cholesterol metabolism where she cloned and characterized the mouse and human forms of Pcsk9. She then performed her internal medicine residency at New York Presbyterian Hospital Columbia and her hematology/oncology fellowship at the University of Pennsylvania. She subsequently completed a cancer genetics fellowship and postdoctoral training in the field of human cancer genetics at the University of Pennsylvania. Dr. Maxwell performed her postdoctoral training in the laboratory of Dr. Katherine Nathanson at Penn Medicine, focusing on cancer genetics and genomics in BRCA-deficient breast and ovarian cancer. Dr. Maxwell’s clinical practice is in the area of cancer risk evaluation and includes medical management of a variety of cancer risk syndromes. At Penn Medicine, she is a regional referral expert for patients with Li Fraumeni Syndrome, a rare cancer risk syndrome caused by TP53 mutations. Dr. Maxwell also codirects the Cancer Genetics Program at the Corporal Michael Crescenz Veterans Affairs Medical Center in Philadelphia

where she works to provide alternative genetic testing care models to a racially diverse population of veterans. In her Veterans Affairs role, Dr. Maxwell is also an expert consultant for the National Precision Oncology Program (NPOP) where she provides consultation for implementing cancer risk and tumor genomic testing. Dr. Maxwell’s laboratory studies mechanisms of tumor formation in breast and prostate cancer due to germline mutations in TP53 and other DNA repair genes. Dr. Maxwell is a recipient of the Burroughs Wellcome Career Award for Medical Scientists and a National Cancer Institute K08 Award. She is also funded through the Prostate Cancer Foundation, the Li Fraumeni Syndrome Association, and the Basser Center for BRCA at Penn Medicine.

Keri Norris, Ph.D., M.P.H., MCHES, is a public health professional with extensive training and expertise in health equity, health promotion, and disease prevention at the local, state, and federal level. She has worked for some premiere public health and higher education institutions (including the Centers for Disease Control and Prevention, the Fulton DeKalb Hospital Authority, Spelman College, Agnes Scott College, Baylor University, and Morehouse School of Medicine). She is currently the Vice President of Health Equity, Diversity, and Inclusion for the National Hemophilia Foundation. She has a TEDx Talk on Hiding in Plain Sight: Health Equity and What’s Missing. She is a graduate of Agnes Scott College, Morehouse School of Medicine, the University of South Carolina, and Emory University Law School. Keri serves on the board of Henry County Board of Health, Good Samaritan Health Center Atlanta, Haven of Light, International, and the advisory board of the National Coalition Against Domestic Violence. She is a member of Junior League DeKalb and Alpha Kappa Alpha Sorority, Inc.

Cristi Radford, M.S., CGC, Product Director, is responsible for overseeing the development and launch of genetic test management capabilities within Optum’s laboratory benefit management solution. Previously, Radford served as Director of Genetics, Clinical Initiatives, for UnitedHealthcare, where she was responsible for developing and implementing strategies to improve access to genetic testing and services while driving affordability and member outcomes. Of note, she spearheaded the launch of Fit-at-50, a program increasing the use of direct-to-member, in-home, colorectal cancer screening for average risk members, setting a framework for precision population health programs. She also led the implementation of a rapid genetic testing program in the NICU setting, which increased the use of rapid genetic testing in NICU settings using a novel reimbursement method. Prior to joining UnitedHealth Group, Radford was Channel Development Manager at Genome Medical. Earlier in her career, Radford developed sev-

eral community-based cancer risk assessment programs before transitioning into commercial molecular diagnostics in 2012 at Ambry Genetics and subsequently Invitae. Her academic roles have included positions at Vanderbilt University and Moffit Cancer Center, where she helped create and expand ICARE, as well as Johns Hopkins University. ICARE is an effort to improve access to cancer genetics expertise for patients and health care providers and includes a cancer registry. Radford holds a bachelor of science degree from the University of Georgia and a master of science degree in genetic counseling from the University of South Carolina.

Bruce Quinn, M.D., Ph.D., is an expert in Medicare policy for innovative technology. His initial career was as a full-time medical school faculty member. Armed with an M.B.A. in 2001, he shifted to a career in strategy consulting. He served as a regional Medicare Part B medical director, 2004–2008. He has worked for a global consulting firm, Accenture, as well as for two D.C.-based health policy firms. Since 2016, he has been an independent consultant primarily focused on genomics and digital technologies. His services include product planning and reimbursement pathways for innovators, as well as due diligence investigations for investors. His website on health policy and new technology, “Discoveries in Health Policy,” has had over a million views, holds 2,000 articles, and has hundreds of subscribers from industry, academia, and government. Dr. Quinn is based in Los Angeles.

Mary Relling, Pharm.D., earned her undergraduate B.S. degree from the University of Arizona College of Pharmacy and her doctoral degree from the University of Utah College of Pharmacy. She completed postdoctoral fellowships with Dr. William Evans at St. Jude and with Dr. Urs Meyer at University of Basel. She joined St. Jude as a faculty member in 1988 and was chair of the Department of Pharmaceutical Sciences from 2003 to 2020. She is also a professor at the University of Tennessee in the Colleges of Medicine and Pharmacy. Her primary interests are in treatment and pharmacogenetics of childhood leukemia and clinical implementation of pharmacogenetic testing. Dr. Relling is part of NIH’s Pharmacogenomics Research Network and cofounder of CPIC, the Clinical Pharmacogenetics Implementation Consortium. She has published more than 400 original scientific manuscripts. She was elected to the National Academy of Medicine (formerly Institute of Medicine) in 2009.

Consuelo H. Wilkins, M.D., MCSI, is a nationally recognized physician-scientist leader in health equity research focused on integrating social, cultural, and environmental factors into clinical and translational research. Dr. Wilkins is Senior Vice President and Senior Associate Dean for Health

Equity and Inclusive Excellence and a professor of medicine at Vanderbilt University Medical Center. Dr. Wilkins is a Principal Investigator (PI) of three NIH-funded research centers and is responsible for a portfolio of programs in response to the institutions’ strategic direction for inclusion and diversity. She has also been PI of a Robert Wood Johnson Foundation Award on measuring and engendering trust in health care among African American men and a Patient-Centered Outcomes Research Award on Improving Patient Engagement and Understanding Its Impact on Research. Among Dr. Wilkins’s many contributions to science is her prescient focus on engaging racial and ethnic minority communities using implementation science methodologies in the design and conduct of clinical research. She has pioneered efforts to move the academic and clinical research enterprise to transform approaches to clinical research design by embedding participant and community engagement in every aspect of biomedical discovery. An elected member of the National Academy of Medicine, she has published more than 100 papers on her research. Dr. Wilkins earned a bachelor of science in microbiology and a doctorate in medicine from Howard University and a master of science in clinical investigation from Washington University in St. Louis. She completed residency in internal medicine at Duke University Medical Center and a fellowship in geriatrics at Barnes-Jewish Hospital/Washington University Medical Center.

Philip Zazove, M.D., is professor emeritus at Michigan Medicine, University of Michigan. Dr. Zazove has profound hearing loss and is one of the first people with this to have become a physician. Dr. Zazove has been one of the pioneers researching health services and primary care for people with hearing loss—ever since he started at the University of Michigan 30 years ago. The research he has conducted, the papers he has published, the consulting he has done, and the presentations he has made at various national/international meetings have focused on health care for deaf/hard of hearing persons. Dr. Zazove has successfully managed large population-based studies with these individuals in the past. In addition, he has had an interest in primary care genomics, publishing work and completing a sabbatical in this area at University College London. Dr. Zazove graduated from Northwestern University and received his M.D. from Washington University. He completed his residency training in family medicine at the University of Utah Hospitals and a master’s in business at Northwestern’s Kellogg School of Business.