Appendix B

Speaker Biographical Sketches

Sara Altschule, a BRCA 2 carrier, is an advocate for women’s health and empowerment. She has documented her experience of discovering her BRCA mutation to undergoing a preventive double mastectomy with reconstruction for various publications (Bustle, SELF, Refinery29, and more).

Cinnamon Bloss, Ph.D., is an associate professor in the Department of Family Medicine and Public Health, Division of Health Policy at the University of California, San Diego. Dr. Bloss has secondary appointments in the Departments of Psychiatry and Medicine (Division of Biomedical Informatics) and is a licensed clinical psychologist. The primary focus of Dr. Bloss’s work is interdisciplinary research on the individual and societal impacts of emerging biomedical technologies. With a background in clinical psychology, statistical genetics, and biomedical ethics, she has conducted large-scale projects in areas such as direct-to-consumer genomics, genome sequencing in diagnostic odyssey cases, privacy and big data, and genome editing. Dr. Bloss has been the principal investigator or a co-investigator on more than 15 federal grants, has published more than 80 papers, and mentored more than 40 students.

Danielle Bonadies, M.S., C.G.C., is the director of the genetics division at My Gene Counsel, a digital health company that links current, updating, evidence-based information to genetic test results. Ms. Bonadies practiced as a clinical genetic counselor at the Yale School of Medicine for a decade, where she was the assistant director of the Cancer Genetic Counseling Program. She designed and ran several interactive, online patient education

and communication sites and was involved in the cancer genetics education of thousands of patients, clinicians, and students. Ms. Bonadies has co-authored multiple book chapters and articles on genetic counseling and testing and was involved in the collection, documentation, and publication of several key articles about the high rate of result misinterpretation among clinicians ordering genetic testing. At My Gene Counsel, Ms. Bonadies oversees the development of digital genetic counseling tools and takes an active role in technology development.

Shawneequa Callier, J.D., M.A., is an associate professor in the Department of Clinical Research and Leadership at The George Washington University School of Medicine and Health Sciences (SMHS). Dr. Callier teaches courses in bioethics and health care law in a variety of programs at SMHS. She is also a professorial lecturer in law at The George Washington University Law School and a special volunteer at the Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health. Dr. Callier’s research focuses on issues at the intersection of bioethics, law, genomics, and emerging technologies.

Siobhan M. Dolan, M.D., M.P.H., is a professor and the vice chair for research in the Department of Obstetrics and Gynecology and Women’s Health at the Albert Einstein College of Medicine and the Montefiore Medical Center in the Bronx. Board-certified in both obstetrics/gynecology and clinical genetics, she maintains her clinical practice in the Division of Reproductive and Medical Genetics at Montefiore where she works to improve the health of mothers and children by preventing birth defects, preterm birth, and infant mortality.

Matthew Ferber, Ph.D., is an assistant professor and a consultant in the Department of Laboratory Medicine and Pathology at the Mayo Clinic, where he serves as a co-director for the Genomics Laboratory. He was the founder and the director of the Clinical Genome Sequencing Laboratory at Mayo from 2012 to 2018. He has worked very closely with Mayo Clinic’s Center for Individualized Medicine over the years, serving as a founding member of the Clinomics program, which created the Individualized Medicine Clinic and Mayo’s Diagnostic Odyssey Services. In October 2018, under the leadership of Dr. Ferber, Mayo’s consumer genomic testing product, Mayo Clinic GeneGuide™, was launched.

Stephanie Malia Fullerton, D.Phil., is a professor of bioethics and humanities at the University of Washington (UW) School of Medicine. She is also an adjunct professor in the UW departments of epidemiology, genome sciences, and medicine (medical genetics) as well as an affiliate investigator with the

Public Health Sciences division of the Fred Hutchinson Cancer Research Center. She received a Ph.D. in human population genetics from the University of Oxford and later re-trained in ethical, legal, and social implications (ELSI) research with a fellowship from the National Human Genome Research Institute at the National Institutes of Health. Dr. Fullerton’s work focuses on the ethical and social implications of genomic research and its equitable and safe translation for clinical and public health benefit. She serves as the ELSI lead for the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium coordinating center, co-chairs the TOPMed Consortium ELSI Committee, and chairs the bioethics advisory board of the Kaiser Permanente Research Bank. She contributes to a range of empirical projects focused on clinical genomics translation and precision medicine approaches to the treatment and prevention of cancer and kidney disease in diverse patient populations.

Sadie Hutson, Ph.D., R.N., WHNP-BC, FAANP, is currently a professor and an assistant dean of graduate programs at the University of Tennessee College of Nursing. She earned a Ph.D. in nursing and an M.S.N. as a women’s health nurse practitioner from the University of Pennsylvania in Philadelphia. Dr. Hutson additionally received a B.S.N. from the University of Wisconsin–Madison and a certificate in clinical genetics from Georgetown University. Her areas of scientific interest include studying the consequences of living with chronic illness in rural and underserved areas, specifically Appalachia. Dr. Hutson practices clinically as the director of the cancer genetics program at the Leonard Lawson Cancer Center at the Pikeville Medical Center in eastern Kentucky.

Gail H. Javitt, J.D., M.P.H., is a member of the firm in the health care and life sciences practice in the Washington, DC, office of Epstein Becker Green. Ms. Javitt provides strategic Food and Drug Administration (FDA) regulatory advice for leading medical device, diagnostics, pharmaceutical, biological products, human cellular, and tissue-based products (HCT/Ps) and dietary supplement companies throughout the product life cycle, and she has successfully resolved disputes at both the pre- and postmarket stage. She also has significant experience advising clinical laboratories on FDA and the Clinical Laboratory Improvement Amendments requirements for laboratory-developed tests. Ms. Javitt’s experience prior to joining Epstein Becker Green included serving as counsel in a major Washington, DC, FDA regulatory practice and as a law and policy director at the Genetics and Public Policy Center, part of Johns Hopkins University. At the center, she was responsible for developing policy options to guide the development and use of reproductive and other genetic technologies. In addition, Ms. Javitt has published and spoken widely on issues at the intersection of law and

science, including FDA regulation of genetic testing, precision medicine, and next-generation sequencing. Her academic experience has included serving as a faculty member at the Berman Institute of Bioethics at Johns Hopkins University and as an adjunct professor at the Georgetown University Law Center, American University’s Washington College of Law, and the University of Maryland School of Law. She was previously a Greenwall Fellow in Bioethics and Health Policy, a collaborative effort between Johns Hopkins University and Georgetown University.

Jordan Laser, M.D., is a board-certified anatomic, clinical, and molecular genetic pathologist. Currently employed at Northwell Health System in New York, Dr. Laser serves the Department of Pathology and Laboratory Medicine in the following roles: medical director, Long Island Jewish Medical Center pathology and laboratory medicine; associate medical director, Core Laboratories; senior director, Division of Cytogenetics and Molecular Pathology; and director, Division of Near Patient Testing. Dr. Laser is active in key pathology professional societies such as the Association for Molecular Pathology, where he chairs the Professional Relations Committee, and the College of American Pathologists, where he is the vice chair of the Personalized Healthcare Committee. His expertise includes molecular and genomic medicine, laboratory management, health care finance, and standards and regulations.

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 the Baylor College of Medicine. She researches ethical and policy issues in human genetics, with a particular focus on genomic research and the clinical integration of emerging technologies. Currently, she is studying issues related to genomic data sharing, the policy implications of emerging business models for next-generation sequencing, and ethical and policy issues arising in the clinical integration of genomic technologies. Her research is funded by the National Human Genome Research Institute, the National Cancer Institute, and the National Institute of Child Health and Human Development at the National Institutes of Health, and she is a member of the advisory committee for the Greenwall Faculty Scholars Program in Bioethics.

Robert Nussbaum, M.D., is the chief medical officer of Invitae, a genetic information and diagnostic company. He is board certified in internal medicine, clinical genetics, and clinical molecular genetics and is a fellow of the American College of Physicians and the American College of Medical Genetics and Genomics. From 2006 to 2015 he was the Holly Smith Professor of Medicine at the University of California, San Francisco (UCSF),

and the chief of the Division of Genomic Medicine and Medical Director of both the cancer risk program and the UCSF program in cardiovascular genetics. He previously served in the Division of Intramural Research of the National Human Genome Research Institute of the National Institutes of Health and was a professor of human genetics, pediatrics, and medicine at the University of Pennsylvania and an associate investigator of the Howard Hughes Medical Institute. He received an M.D. in 1975 from the Harvard–Massachusetts Institute of Technology joint program in health science and technology, internal medicine training at Barnes Hospital/Washington University (1975–1978), and genetics training at the Baylor College of Medicine (1978–1981). He is the co-author of more than 230 peer-reviewed publications in basic and applied human genetics as well as numerous commentaries, editorials, and textbook chapters. He was elected to the National Academy of Medicine in 2004 and to the American Academy of Arts & Sciences in 2015. Dr. Nussbaum served as a member of the board of directors and as the president of the American Society of Human Genetics, was on the board of directors of the American Board of Medical Genetics and Genomics, and was a founding fellow on the board of directors of the American College of Medical Genetics and Genomics. Dr. Nussbaum was awarded the Klaus Joachim Zülch-Prize for Neurological Research, the Jay Van Andel Award for Outstanding Achievement in Parkinson’s Disease Research, and the Calne Lectureship from Parkinson Canada for his work on hereditary Parkinson disease. He is co-author with Drs. Roderick M. McInnes and Huntington F. Willard of three editions of the popular textbook of human genetics, Thompson and Thompson’s Genetics in Medicine. With his two co-authors, he received the 2015 Award for Excellence in Human Genetics Education from the American Society of Human Genetics. He has received numerous other awards for research, service, and education from the University of Pennsylvania, the National Institutes of Health, UCSF, and the Lowe Syndrome Association.

Dorothy Pomerantz is a writer, editor, and strategist. In 2018 she did an at-home genetics test on a whim and received terrible health news. She is sharing her story in the hope of helping people who will find themselves in the same situation.

Andrew Singleton, Ph.D., received his B.Sc. from the University of Sunderland, United Kingdom, and his Ph.D. from the University of Newcastle upon Tyne, United Kingdom. His research initially focused on the genetic determinants of dementia, in particular Alzheimer’s disease and dementia with Lewy bodies. His postdoctoral studies were spent at the Mayo Clinic in Jacksonville, Florida. Dr. Singleton moved to the National Institute on Aging (NIA) at the National Institutes of Health (NIH) in Bethesda, Maryland, in

2001 and became a principal investigator leading the Molecular Genetics Unit in 2002. In 2007 Dr. Singleton became a tenured senior investigator at NIA, in 2008 he became the chief of the Laboratory of Neurogenetics, and in 2016 he was named an NIH distinguished investigator. Dr. Singleton has published more than 550 articles on a wide variety of topics. His laboratory comprises approximately 50 staff, including 5 principal investigators and 3 group leaders. His laboratory works on the genetic basis of neurological disorders including Parkinson’s disease, Alzheimer’s disease, dystonia, ataxia, dementia with Lewy bodies, and amyotrophic lateral sclerosis. The goal of this research is to identify genetic variability that causes or contributes to disease and to use this knowledge to understand the molecular processes underlying disease. Most recently his work has expanded to the use of multimodal data in predicting disease. Dr. Singleton currently serves on the scientific advisory board of The Michael J. Fox Foundation for Parkinson’s Research and the Lewy Body Dementia Association; he is a member of the editorial boards of Neurodegenerative Diseases, Neurobiology of Disease (associate editor, genetics), Neurogenetics, Movement Disorders, Brain (associate editor, genetics), Lancet Neurology, the Journal of Parkinson’s Disease, NPJ Parkinson’s Disease (associate editor), and the Journal of Huntington’s Disease. Dr. Singleton was awarded the Boehringer Mannheim Research Award in 2005, the NIH Director’s Award in 2008 and again in 2016, and the Annemarie Opprecht Award for Parkinson’s disease research in 2008. In 2012 Dr. Singleton became the first person to win the Jay van Andel Award for Outstanding Achievement in Parkinson’s Disease Research. In 2017 Dr. Singleton was awarded the American Academy of Neurology Movement Disorders Award and an honorary doctorate from his alma mater, the University of Sunderland.

Timothy Stenzel, M.D., Ph.D., joined the Food and Drug Administration (FDA) in July 2018 and has an extensive background, spanning more than 20 years, in executive leadership, innovation, companion diagnostics, research and development, FDA regulations, and clinical laboratory operations. He received his M.D. and Ph.D. in microbiology and immunology, focusing on the molecular biology of DNA replication, from Duke University after graduating with honors in chemistry from Grinnell College. In his last position, from 2014 to 2018, Dr. Stenzel served as the chief operating officer at Invivoscribe, focusing on companion diagnostics and next-generation sequencing/massively parallel sequencing in oncology. During his career he has played important roles in the development and launch of more than 30 in vitro diagnostic products, as well as numerous unique laboratory-developed test services, including the FDA-approved companion diagnostic for Novartis’s drug Rydapt and the world’s first clinical microRNA assay (for pancreatic cancer detection). Other experience includes serving as

the chief scientific officer and the founder of the Molecular Diagnostics franchise at Quidel, the chief medical officer and the vice president of research and development at Asuragen, and the senior director for medical, regulatory, and clinical affairs at Abbott Molecular. Dr. Stenzel served as a board director at the American College of Medical Genetics and Genomics (ACMG) Foundation for Genetic and Genomic Medicine from 2008 to 2013. He has served on the ACMG/College of American Pathologists (CAP) Biochemical and Molecular Genetics Resource Committee from 1996 to 2005, the Association for Molecular Pathology (AMP) finance committee from 2012 to 2018, the AMP strategic planning committee from 2007 to 2009, as the AMP chair-elect and chair of the Solid Tumor Division from 2003 to 2004, the CAP molecular oncology committee from 2013 to 2018, and as a member of the CAP house of delegates from 2011 to 2017. As the Office of In Vitro Diagnostics and Radiological Health (OIR) director at FDA, Dr. Stenzel will advise center leadership on all regulatory (premarket and postmarket) in vitro diagnostic, radiological medical device, and radiation-emitting product issues that have an impact on center- and agency-level decisions, policy development, nationwide program execution and short- and long-range program goals and objectives as well as provide executive leadership and scientific direction to the OIR staff.

Joyce Tung, Ph.D., joined 23andMe in 2007 and manages the 23andMe research team, which is responsible for consumer health and ancestry research and development, academic and industry collaborations, computational analyses for therapeutics, and new research methods and tools development. While a postdoctoral fellow at Stanford University, Dr. Tung studied the genetics of mouse and human pigmentation. She graduated from Stanford with honors and distinction with a B.S. in biological sciences and a minor in computer science, and she earned her Ph.D. in genetics from the University of California, San Francisco, where she was a National Science Foundation graduate research fellow.

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