Working Group 3: Regulatory and Equitable Access

Working group members, from academia, industry, and government in multiple fields, have been meeting since February 2021 to identify roadblocks and possible solutions. Working Group 3 has been focusing on:

  • How will we ensure equitable access to gene-targeted therapies?


Working Group Members

Chair: Sir Mark Caulfield, M.D., FRCP, FESC, HonPharm, FBHS, FMedSci, was the director of the William Harvey Research Institute between 2002 and 2020. In 2013 he became a National Institute for Health Research (NIHR) senior investigator and was appointed the chief scientist for Genomics England’s 100,000 Genomes Project. He served on the National Institute for Clinical Excellence (NICE) Guideline Group for hypertension and was the president of the British Hypertension Society from 2009 to 2011. Since 2008 he has directed the NIHR Cardiovascular Biomedical Research Unit and Centre at St Bartholomew’s Hospital (Barts). Between 2010 and 2015 he co-led the merger of three hospitals in North London to create the new £400 million Barts Heart Centre. At Barts he developed a research program in molecular genetics of hypertension, which has discovered more than 1,000 gene loci for blood pressure. He was the director and was elected a fellow of the Academy of Medical Sciences in 2008. He was awarded the Lily Prize of the British Pharmacology Society, the Bjorn Folkow Award of the European Society of Hypertension, and the Franz Volhard Award of the International Society of Hypertension. Sir Mark was awarded a Knighthood in the June 2019 Queen’s Birthday Honours List for services to the 100,000 Genomes Project. He received his M.D. from the London Hospital Medical College and trained in clinical pharmacology at St Bartholomew’s Hospital.

Sarah Beachy, Ph.D., is a senior program officer at the National Academies of Sciences, Engineering, and Medicine in Washington, DC, where she serves as the director of the Roundtable on Genomics and Precision Health and the Forum on Regenerative Medicine. Each convening activity brings together leaders from a variety of sectors including government, industry, academia, and patient advocacy organizations to discuss key challenges and emerging scientific and policy issues related to the translation of scientific discoveries into clinical use. In these roles and in leading other projects, she has facilitated impactful public workshops and discussions resulting in publications such as Changing the Culture of Data Sharing and Management, An Examination of Emerging Bioethical Issues in Biomedical Research, Exploring the Current Landscape of Consumer Genomics, Understanding Disparities in Access to Genomic Medicine, Applying an Implementation Science Approach to Genomic Medicine, Exploring Novel Clinical Trial Designs for Gene-Based Therapies, and Navigating the Manufacturing Process and Ensuring the Quality of Regenerative Medicine Therapies. Prior to her time at the National Academies, Dr. Beachy completed an American Association for the Advancement of Science (AAAS) Science and Technology Policy Fellowship in diplomacy at the U.S. Department of State, working closely with the Office of the Science and Technology Adviser to the Secretary. She was selected as a Mirzayan Science and Technology Policy Fellow and worked with the Board on Health Sciences Policy at the National Academies. She received her Ph.D. in biophysics from the Roswell Park Cancer Institute Graduate Division at the University at Buffalo and completed a postdoctoral fellowship in the Genetics Branch at the National Cancer Institute, where she generated and characterized transgenic mouse models of leukemia and lymphoma. 

Patricia Deverka, M.D., is the executive director of Deverka Consulting, LLC, where she focuses on helping biotech companies and start-ups develop evidence to support coverage and clinical adoption of innovative technologies. Recent projects have focused on breakthrough tests and drugs focused on population screening, cancer, and ultra-rare disorders. She has worked in the fields of health economics and outcomes research in both non-profit and for-profit settings as a researcher, educator, consultant, and department head. She has extensive experience with drug and diagnostic product development, reimbursement planning, cost-effectiveness analysis, and bioethical issues surrounding the use of new technologies. While working in academia and at several non-profit firms, Dr. Deverka participated in numerous NIH-funded studies to evaluate policy barriers to clinical integration of new genomic technologies and published extensively on strategies to promote evidence generation and data sharing. She received her M.D. from the University of Pittsburgh School of Medicine and her M.A. in bioethics from the University of Pennsylvania School of Medicine. She is board certified in general preventive medicine and public health and completed a policy fellowship at Duke University’s Institute for Genome Sciences and Policy.

Florian Eichler, M.D., is the director of the Center for Rare Neurological Diseases at Massachusetts General Hospital (MGH), where he conducts translational studies on lipid biology affecting the nervous system and focuses on implementing gene therapy trials for leukodystrophies and hereditary spastic paraplegias. Previously he was an associate professor of neurology at Harvard Medical School. He researched animal models of neurodegenerative disorders focusing on the genetics of peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance (MR) spectroscopy. As director of the Leukodystrophy Clinic at the Massachusetts General Hospital he saw patients with a variety of white matter disorders. He received his M.D. from the University of Vienna Medical School and completed his residency in pediatrics and pursued studies on cerebral blood flow and metabolism at the University of Vienna. In 1999 he won a scholarship to study in vivo MR spectroscopy in pediatric patients with metabolic and neurometabolic conditions at Johns Hopkins and joined the laboratory of Dr. Hugo Moser dedicated to peroxisomal disorders at the Kennedy Krieger Institute. Following a research fellowship at Johns Hopkins he underwent residency training in child neurology at MGH and joined the staff there.  

Richard S. Finkel, M.D., is the director of the Center for Experimental Neurotherapeutics at St. Jude Children’s Research Hospital in Memphis, Tennessee, and a professor of neurology at the University of Central Florida School of Medicine. He previously held positions at Denver Children’s Hospital, the Children’s Hospital of Philadelphia, and Nemours Children’s Hospital in Orlando. His clinical practice and research interests focus upon pediatric neuromuscular disorders, especially spinal muscular atrophy, Duchenne muscular dystrophy, inherited neuropathies, and neurometabolic disorders. Dr. Finkel has participated in numerous clinical trials, natural history studies, and the development of standard-of-care guidelines and has contributed to the development of outcome measures, clinical trial design, and biomarker identification for neuromuscular disorders. He has published more than 175 peer-reviewed manuscripts and book chapters. He is an associate editor of two neuromuscular journals and a co-editor of the current edition of the textbook Pediatric Neurology: Principles and Practice. His contributions to translational research in spinal muscular atrophy have been recognized by his award of the Bengt Hagberg memorial lectureship, the Sidney Carter Award in Child Neurology from the American Academy of Neurology, and sharing the International Prize for Translational Neuroscience of the Gertrud Reemtsma Foundation of the Max Plank Institute. He received his M.D. from Washington University School of Medicine in St. Louis and completed training in pediatrics, neurology, and neuromuscular medicine at Boston Children’s Hospital and Harvard Medical School.

Jodie Gillon is the chief patient officer and vice president of clinical affairs at Abeona Therapeutics, a cell and gene therapy company. In this role she leads patient advocacy, healthcare professional (HCP) engagement, medical communications and information, contributions, congresses/meetings, grants and contributions, and early access. She serves on the Executive Leadership Team; her responsibilities include corporate communications, employee culture and engagement, and compliance. She also serves on several industrywide boards pertaining to gene therapy, patient advocacy, rare diseases, compassionate use, innovation, and artificial intelligence. Prior to joining Abeona, she spent more than a decade with Pfizer as the global medical lead, patient engagement for the Rare Diseases Business Unit, and the director of medical communications in the Chief Medical Office (CMO). She served as a core member on all medical, commercial, launch, and global and regional leadership teams to ensure the patient voice drove strategy and facilitated collaborations with patient groups. Prior to Pfizer, Ms. Gillon was the head of patient advocacy and professional affairs with Achillion Pharmaceuticals, where she led policy, alliances, patient engagement, contributions/grants, compassionate use, medical information, medical communications, field medical, and external affairs. She also served as the head of the CMO of AstraZeneca, where she managed patient engagement, compassionate use, trial and payment transparency, meetings and events, an HCP engagement center, companywide policy, external contributions, alliances, and crisis management. She held additional roles as the global communications lead at Novartis, the director of medical education at Oridion Medical, and as a health economist with the Israeli Center for Disease Control and Ministry of Health. She received her M.P.H. in health economics and epidemiology from Hebrew University in Jerusalem and her BSFS from Georgetown’s School of Foreign Service. 

Aaron Goldenberg, Ph.D., is the vice-chair and an associate professor in the Department of Bioethics at Case Western Reserve University School of Medicine, the research director of the Department, and the co-director of the Case Western Center for Genetic Research Ethics and Law. Since he joined the faculty at Case Western Reserve University, his work has focused on the ethical, legal, and social implications of genetics and genomics in clinical and public health settings. His research program has been grounded by several major project areas, including ethical implications of expanding newborn screening programs; storage and use of perinatal and pediatric biological specimens for future research; and diversity in genetic research, including the implications of gene-environment interactions for racial/ethnic minorities and other communities experiencing health disparities. In addition to his scholarly initiatives, Dr. Goldenberg co-chairs the Bioethics and Legal Workgroups for the Newborn Screening Translational Research Network and Legal and Legislative Workgroup for the American Public Health Laboratory Association. He also is a member of the institutional review board (IRB) for the National Institutes of Health All of Us Research Program. He received his Ph.D. in bioethics from Case Western Reserve University.

Sara F. Goldkind, M.D., M.A., is currently an independent research and clinical bioethics consultant with Goldkind Consulting LLC. In this capacity, her work includes consulting on novel therapies, innovative clinical trial designs, and product development in special settings (e.g., research involving pregnant women, pediatric populations, decision-impaired subjects, rare diseases, international research, and emergency research); advising on and developing human research protection programs and institutional review boards; and regulatory compliance. She is a nationally recognized expert on clinical research ethics and is the former senior bioethicist at the Food and Drug Administration (FDA) in the Office of the Commissioner. In this position, she served as an agency expert for medical ethics and participated in the planning, management, and implementation of bioethics activities and policies across the FDA. These activities included ethics consultations for the Department of Health and Human Services and for industry; guidance and policy development; educational programming; and evaluation of the ethical aspects of research involving human subjects, including clinical trial oversight. Previously, she was involved in clinical consultative ethics, policy development, and education in both the clinical setting and academia. She received her M.D. from the University of Maryland School of Medicine and her master’s degree in religious studies focusing on comparative religious ethics and public policy from the University of South Florida School of Medicine. She is a board-certified internist and completed a fellowship in clinical medical ethics.

Scott Grosse, Ph.D., is senior health economist in the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention (CDC). He conducts health services research, economic evaluations, and policy analyses on childhood-onset rare disorders and neurodevelopmental conditions (e.g., ADHD, autism, congenital hearing loss, cystic fibrosis, intellectual disability, sickle cell disease, and spina bifida) and associated risk factors (e.g., folic acid insufficiency, preterm birth, and congenital cytomegalovirus [CMV] infection). Dr. Grosse has more than 20 years of experience assessing the cost effectiveness of genetic testing approaches and the public health impacts of newborn screening strategies and long-term follow up. He received his Ph.D. in public health from the University of Michigan. 

R. Rodney Howell, M.D., FAAP, FACMG, is an emeritus professor and chairman of pediatrics as well as emeritus member of the Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine. Dr. Howell first became interested in metabolic disorders and pediatrics while he was a medical student at Duke University. Following his internship and residency in pediatrics at Duke University Medical Center, he completed a research fellowship under the direction of James B. Wyngaarden, M.D., who later became director of the National Institutes of Health and who inspired Dr. Howell's eventual career in genetics. 

Annie Kennedy is chief of policy and advocacy at the EveryLife Foundation for Rare Diseases. Focused on improving health outcomes for people living with rare diseases by advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy, her work includes building strong partnerships with policy makers, federal agencies, industry, and alliances. She has served within the community for nearly three decades through her roles with Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). In that time she helped lead legislative efforts around passage and implementation of the MD-CARE Act (2001, 2008, 2014) and the Patient Focused Impact Assessment Act (PFIA), which became the Patient Experience Data provision within the 21st Century Cures Act (sec 3001); engaged with the Food and Drug Administration (FDA) and industry around regulatory policy and therapeutic pipelines; led access efforts as the first therapies were approved in Duchenne; and engaged with the Institute for Clinical and Economic Review (ICER) about the development of the modified framework for the valuation of ultra-rare diseases. Ms. Kennedy’s community roles include service on the board of directors of Cure SMA, the Patient Driven Values in Healthcare Evaluation (PAVE) Steering Committee, FasterCures Cures for Life Initiative, the National Health Council’s PCORI Valuation Group, the Innovation and Value Initiative (IVI) Patient Advisory Committee, the National Duchenne Newborn Screening Pilot Program Steering Committee, the Institute for Gene Therapies (IGT) Patient Advocacy Advisory Council, the State Rare Disease Education Initiative (STRiDE) National Steering Committee, and the leadership team for the development of the NCATS/ORDR Tool Kit Project. 

Caleb Kennedy, Ph.D., is a research fellow at OptumLabs, part of UnitedHealth Group, where he works to implement genomic medicine in one of the largest integrated health systems in the world using science, technology, and real-world evidence. Previously he led similar efforts in academic (Massachusetts Institute of Technology, Harvard), corporate (Thermo Fisher Scientific, Good Start Genetics-Invitae), and nonprofit (National Marrow Donor Program) sectors. He received his B.S. in molecular and cellular biology and M.S. in biology from Texas A&M University and his Ph.D. in genetics from Harvard University.

Lily J. Lou, M.D., is a professor of clinical pediatrics and the director of government relations for the Department of Pediatrics at the University of Illinois, Chicago. She also is the chair of the American Academy of Pediatrics (AAP) Section on Neonatal-Perinatal Medicine and has also served as president of the AAP-Alaska State Chapter. She remains engaged as an alumnus of the Association of State and Territorial Health Officials, serving on their Government Relations and Environmental Health Committees, and is on the faculty advisory board for the Vermont Oxford Network-Rady Children's Genomics Learning Network. Dr. Lou also has had the privilege of serving as a neonatal intensive care unit medical director, pediatric department chair, executive medical director of a children’s hospital, and chief medical officer (CMO)/state health official for the Alaska Department of Health and Social Services. Dr. Lou was a member of the Alaska Newborn Screening Advisory Board as a pediatrician and oversaw the newborn screening program, as well as the state Medicaid program, as CMO. She has held faculty positions at Yale University; the University of North Carolina, Chapel Hill; the University of New Mexico; and the University of Washington WWAMI Medical Education Program. She has practiced in both academic and community settings and has a strong interest in public health and health equity. She received her B.S. in genetics from the University of California, Davis, and her M.D. from the University of North Carolina, Chapel Hill and completed her fellowship research on homeobox gene control of brain and lung development at Yale University School of Medicine.

Amy McGuire, J.D., Ph.D., is the Leon Jaworski Professor of Biomedical Ethics and the director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine. She researches ethical and policy issues related to emerging technologies, with a particular focus on genomic research, personalized medicine, and the clinical integration of novel neurological devices. Her research is funded by the National Institutes of Health. She is a member of the Advisory Committee for the Greenwall Foundation Faculty Scholars Program in Bioethics; a Hasting’s Center Fellow; and a member of the Scientific Advisory Board for Geisinger Research, the Morgridge Institute of Research, and Danaher Life Sciences. Dr. McGuire has received numerous teaching awards at Baylor College of Medicine, was recognized by the Texas Executive Women as a Woman on the Move in 2016, and was invited to give a TedMed talk titled “There is no Genome for the Human Spirit” in 2014. She has served as a member of the National Advisory Council for Human Genome Research and as an advisor to the X Prize in Genomics. She received her J.D. from the University of Houston Law Center and her Ph.D. in medical humanities from the University of Texas Medical Branch. 

Joseph Orsini, Ph.D., is the deputy director of the New York Newborn Screening Program and director of the lysosomal storage disease (LSD) and adrenoleukodystrophy (ALD) screening laboratory. He has 36 publications related to newborn screening. His laboratory was the first to screen newborns for Krabbe disease and ALD and his lab has performed pilot screening for multiple other lysosomal storage disorders. Dr. Orsini leads national efforts in quality assurance/quality control and he co-led the development of the Clinical Laboratory and Standard’s Institute guideline to screening for Pompe disease and ALD. He received his Ph.D. in analytical chemistry from the University of Vermont.  

Amy Ponte, Ph.D., M.P.H., MT(ASCP), is the director of Diagnostic Laboratory Services in Global Medical Affairs at Travere Therapeutics. In this role she establishes and oversees numerous no-cost-to-patients biochemical and genetic testing programs looking to identify and better understand rare disease patients for Travere’s platform of commercial products and clinical trials. Prior to joining Travere, she had a long career in a variety of clinical and research laboratory settings, including the establishment of two genetic screening laboratories still in operation today. Dr. Ponte also has been an involved member and past co-chair of the APHA Genomics Forum Policy committee and has contributed to multiple publications with that group, including a recent article on cancer genetic testing in marginalized groups. She has a keen interest in implementation strategies to deliver genetic technologies to the patients and populations that need them. She received her M.P.H. in genomics from the University of Connecticut and her Ph.D. in health services administration from Walden University. 

Tania Simoncelli is the director of the Science in Society Program at the Chan Zuckerberg Initiative (CZI). She created the program to focus on enhancing public trust in science, fostering more responsive and inclusive science and public health programming, and bringing biomedical research closer to the communities it aims to serve. As part of this work, she envisioned and launched the Rare As One Project, a first-of-its-kind program that supports patient communities in their quest to accelerate research through grantmaking, capacity building support, and the development of new tools and partnerships. Prior to CZI, Ms. Simoncelli served as a senior advisor to Dr. Eric Lander at the Broad Institute of MIT and Harvard, the assistant director of Forensic Science and Biomedical Innovation at the White House Office of Science and Technology Policy, a special assistant to Commissioner Margaret Hamburg at the U.S. Food and Drug Administration, and a science advisor to the American Civil Liberties Union (ACLU). In 2013, she was named by the journal Nature as “one of 10 people who mattered” for her work in spearheading the ACLU’s successful Supreme Court case challenging the patenting of human genes. For the past 20 years, she has designed advocacy strategies and policy solutions to address complex issues at the intersection of science, technology, law, and ethics. She is co-author with Sheldon Krimsky of Genetic Justice: DNA Data Banks, Criminal Investigations, and Civil Liberties (Columbia University Press: 2011). She received her B.A. in biology and society from Cornell University and her M.S. in energy and resources from the University of California, Berkeley. 

Christine Swenson is the senior vice president of regulatory affairs at Beam Therapeutics. She has more than 30 years of drug development experience, including extensive leadership of domestic and international regulatory affairs spanning early and clinical stage development of both biologics and small molecules across multiple therapeutic areas. Before joining Beam, Ms. Swenson was the senior vice president of global regulatory affairs at Moderna, where she led the development and execution of regulatory strategies for its portfolio of mRNA therapeutics and vaccines. Prior to Moderna, she held leadership roles in regulatory affairs that included global regulatory lead for the Yervoy and Opdivo immuno-oncology programs at Bristol-Myers Squibb, Adnexus, ImmunoGen, and Coley Pharmaceutical Group. She received her B.S. in biology from Stonehill College.


NIH Staff

Vence Bonham, J.D., is an associate investigator in the Division of Intramural Research's Social and Behavioral Research Branch at the National Human Genome Research Institute (NHGRI). He leads the Health Disparities Unit, which investigates the equitable integration of new genomic knowledge and precision medicine into clinical settings. His research focuses primarily on the social implications of new genomic knowledge, particularly in communities of color. He studies how genomics influences the use of the constructs of race and ethnicity in biomedical research and clinical care and the role of genomics in exacerbating or ameliorating health inequities. The Bonham Group also studies sickle cell disease, a condition that will be impacted by emerging curative genomic technologies but has faced significant health disparities both in the United States and globally. Mr. Bonham also serves as the senior advisor on genomics and health disparities to the NHGRI director. This role complements his research because it allows contemporary genomic science and policy issues to inform his research program. Previously he was a tenured faculty member at Michigan State University with appointments in the Colleges of Medicine and Law. He received his B.A from James Madison College at Michigan State University and his J.D. from the Moritz College of Law at Ohio State University and was a fellow in the American Association of Medical Colleges Health Services Research Fellowship Program.

Meera Shah, M.P.H., joined the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (ORDR) as a program analyst in December 2018. She works with the ORDR team on numerous projects and programs to advance diagnosis of and treatment for rare diseases through research. She also manages the social media accounts for the ORDR. Prior to joining NCATS, Ms. Shah spent 2 years at the National Institute of Mental Health (NIMH) in its Intramural Research Program (IRP), where she worked as a program specialist in the Office of Fellowship Training. She primarily worked on establishing a science communication training series, developing website content, and collecting and analyzing NIMH IRP fellowship data. She received her bachelor’s degree in health sciences from the University of South Florida and her M.P.H. from the George Washington University. 

Tiina Urv, Ph.D., is the program director for the Rare Diseases Clinical Research Network (RDCRN), a multidisciplinary international program in the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (ORDR). As the lead for the RDCRN program, she collaborates with 10 National Institutes of Health (NIH) Institutes to manage 22 consortia and a central Data Management Coordinating Center. The RDCRN has more than 200 participating sites in 17 countries and more than 100 Patient Advocacy Groups as research partners and conducts research on about 200 rare diseases. Before joining the ORDR, she was a program director in the Division of Clinical Innovation, where she provided stewardship for multiple Clinical and Translational Science Awards Program hubs and worked with the Trial Innovation Network as well as with NCATS’s ORDR. Previously she worked as a program director in the Intellectual and Developmental Disabilities Branch at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), where she coordinated the Hunter Kelly Newborn Screening Research Program; chaired the trans-NIH Fragile X research program; and managed a diverse portfolio of basic, behavioral, and biobehavioral research related to developmental disabilities and rare diseases. Prior to joining NIH, she was an assistant professor at the University of Massachusetts Medical School’s Eunice Kennedy Shriver Center and a research scientist at the New York State Institute for Basic Research in Developmental Disabilities. She received her B.A. in sociology from the University of Washington and her M.A. in applied behavior analysis and her Ph.D. in intellectual and developmental disabilities from Columbia University.