With entire nations in the throes of the Covid-19 pandemic in 2020, Siddhartha Mukherjee urged researchers to count viral spread “within people” as well as “across peoples.” The “science of aggregation,” he explained in an essay published by The New Yorker on April 6, 2020, is most effective when it moves in step with “the science of the one.” During this opening keynote presentation, the globally renowned author of The Emperor of All Maladies, The Gene: An Intimate History, and The Song of the Cell: An Exploration of Medicine and the New Human provided an update on his thinking about the status and outlook for personalized medicine in a post-pandemic world.

INTRODUCTION | Raju Kucherlapati, Ph.D., Paul C. Cabot Professor of Genetics, Harvard Medical School

KEYNOTE SPEAKER | Siddhartha Mukherjee, M.D., D.Phil., Assistant Professor of Medicine, Columbia University

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Game-changing early detection. Pre-screening for genetic risk factors. In the era of personalized medicine, biomarker-based cancer diagnostics are captivating the public imagination based on their potential to help physicians get ahead of the second-leading cause of death in the United States. Against this backdrop, test developers, a patient advocate, a representative from a leading cancer center, and a medical geneticist discussed strategies for communicating with patients about the complexities of the “dreaded disease.”

MODERATOR | William Dalton, Ph.D., M.D., Founder and Senior Advisor, M2Gen

David Bakelman, CEO, National Pancreas Foundation

Tomasz Beer, M.D., Vice President, Chief Medical Officer, Multi-Cancer Early Detection, Exact Sciences

Robert C. Green, M.D., Professor of Medicine (Genetics), Mass General Brigham and Harvard Medical School

Joshua Ofman, M.D., President, GRAIL

Sapna Syngal, M.D., Strategic Planning Director, Prevention and Early Cancer Detection, Dana Farber Cancer Institute

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In 2021, a steering committee of patients and patient advocates came together to support the launch of a Personalized Medicine Coalition educational platform that encourages patients to advocate for health care tailored not only to their biological characteristics, but also to their circumstances and values. The online resource promises to broaden public understanding of what it means to personalize health care. During this panel discussion, the nationally recognized patient advocates leading the More Than a Number initiative discussed the importance of enhancing patient-provider interactions with attention to the full scope of biological, environmental, and social factors that impact the health and well-being of every individual.

MODERATOR | Faswilla Sampson, Chief Operating Officer, Personalized Medicine Coalition

Deanna Darlington, President, Links2Equity

Candace Henley, Founder, Blue Hat Foundation

Sarah Krüg, Executive Director, Cancer101

Note: Due to an unexpected interruption in Internet connectivity, PMC was unable to record a video of this summit session.

The Annual Award for Leadership in Personalized Medicine recognizes an individual whose contributions in science, business, and policy have helped advance the frontiers of the field. During this summit session, the Personalized Medicine Coalition presented the 2022 award to pioneering genomics researcher Geoffrey Ginsburg. Long recognized by his colleagues as a founder and luminary, Dr. Ginsburg’s work emphasizes the importance of translating emerging discoveries in genomics and personalized medicine into improved health outcomes for all patients. In November of 2021, the National Institutes of Health selected Dr. Ginsburg as the Chief Medical and Scientific Officer of the All of Us Research Program, a flagship initiative in personalized medicine distinguished for its emphasis on diversity and inclusion.

PRESENTER | Jay G. Wohlgemuth, M.D., Chief Medical Officer, Senior Vice President, Quest Diagnostics

AWARDEE | Geoffrey Ginsburg, M.D., Ph.D., Chief Medical and Scientific Officer, All of Us Research Program, U.S. National Institutes of Health

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Personalized medicine calls for a more diverse, equitable, and inclusive biomedical research enterprise that can provide reliable evidence about the ways in which various health care interventions may affect subsets of heterogenous patient populations. It also calls for clinical interactions tailored more closely to patients’ circumstances, preferences, and cultural backgrounds. During this panel discussion, a diverse group of health care leaders explained how focusing on personalized medicine can improve patient care.

MODERATOR | James W. Lillard, Ph.D., Senior Associate Dean, Morehouse School of Medicine

Donna R. Cryer, J.D., President, CEO, Global Liver Institute; 27-year liver transplant recipient

Omar A. Escontrías, DrPH, MPH, Vice President, Research, Education & Programs, National Health Council

Pari Johnston, Vice President, Policy and Public Affairs, Genome Canada

Richard Knight, President, American Association of Kidney Patients; former hemodialysis patient

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In October of 2019, Dr. Timothy Yu of Boston Children’s Hospital co-authored a landmark paper in The New England Journal of Medicine reporting the successful administration of an “n-of-one” therapy specially designed for Mila Makovec, an eight-year-old patient with an ultra-rare neurological disorder. The development of the therapy points to the rapidly expanding possibilities in personalized medicine. It also raises questions about how to regulate and pay for n-of-one therapies in the future. During this fireside chat with a venture capitalist focused on translating scientific breakthroughs into improved patient care, Dr. Yu reflected on Mila’s case and considered the future of personalized medicine for patients with rare diseases.

MODERATOR | Walter Kowtoniuk, Ph.D., Venture Partner, Third Rock Ventures

Timothy Yu, M.D., Ph.D., Staff Physician & Investigator, Division of Genetics and Genomics, Boston Children’s Hospital; Co-Founder, N=1 Collaborative

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Prior authorization. Informed consent. And, too often, a diagnostic odyssey. The complexities of the health care system can be exasperating. During this panel discussion, a caregiver, a payer, a pharmaceutical industry representative, and a health system administrator discussed strategies for ensuring patient access to high-quality health care tailored to each patient’s needs.

MODERATOR | Lori Frank, Ph.D., Senior Vice President, Research, Policy, and Programs, The New York Academy of Medicine

J. Michael Graglia, Co-Founder, Managing Director, SynGAP Research Fund

Tammy McAllister, Operations Administrator, Center for Individualized Medicine, Mayo Clinic

Susan Perry, Head of Strategy and Operations, Office of the Chief Medical Officer, Point32Health

Sharon Phares, Ph.D., Chief Scientific Officer, National Pharmaceutical Council

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During this panel discussion on the future of pharmacogenomics, a patient harmed by severe side effects from an antibiotic reflected on the shortcomings of one-size-fits-all prescribing practices; the executive director of precision health at a leading health system identified the obstacles still slowing the uptake of pharmacogenetic testing in clinical settings; and the head of the Personalized Medicine Coalition’s science policy initiatives discussed solutions that may help catalyze progress in the future.

MODERATOR | Cynthia A. Bens, Senior Vice President, Public Policy, Personalized Medicine Coalition

Rachel Brummert, Patient Advocate; Communications Lead, American Society of Pharmacovigilance

Howard McLeod, Pharm.D., Executive Clinical Director, Precision Health, Intermountain Healthcare

Daryl Pritchard, Ph.D., Senior Vice President, Science Policy, Personalized Medicine Coalition

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SPEAKER | Lindsay Stephens, Program Manager, Secretary to the Board, Personalized Medicine Coalition; Diagnosed with breast cancer in 2021

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