In 1546, Girolamo Fracastoro published a new idea that challenged current thinking on the cause of disease.1 For centuries, Galen’s theories of humorism had been the basis for medical diagnosis and treatment. Imbalances in the bodies’ humors (blood, bile, sweat, etc.) and miasmas (i.e., bad air) were believed to bring sicknesses like cholera, flu, or plague. Galen’s thinking had guided medical thought and practice from the second century, into the 1800s. In a radical departure from Galen’s theories, Fracastoro suggested that fomites, small particles, were invisible causative agents of disease. It was not until Koch and Pasteur later isolated bacteria in the late 1800s that medical practice evolved based on this new understanding. We now possess incredible power to examine the structure and function of the human body. Moreover, we can use that information to guide a multitude of pharmaceutical or surgical interventions. But, there remains a gap in our ability to predict and to prevent disease, and that is the next fundamental advance that we are poised to address through advances in human genetics.
In January 2015, President Barak Obama announced the Precision Medicine Initiative.2 Now, 2 years later, the program is beginning to take shape and gain momentum. The precision medicine initiative is a program that intersects advances in laboratory and clinical genetics with large-scale clinical informatics to better understand biological, environmental, and behavioral factors that influence health and wellness. Not only can this insight be useful to define specific treatments for individual patients, but it can also be used to inform public health and health policy.
This grand scientific challenge has the potential to fundamentally move the practice of medicine away from current models where doctors are trained to monitor and treat diseases in similar ways for groups of patients, toward new models based on disease prediction and preventive interventions that are specific to individual genetic and environmental considerations. Precision medicine will also challenge us to redefine the basis for evidence-based practice. At its core, evidence-based practice already values individual patient preference and autonomous participation in medical decision making by patients. However, much of the current thinking that defines high-quality evidence prioritizes large prospective cohort studies, where individualized treatments would be lost in the average response. This will require some shift in thought and practice to accommodate a new reality where the best practice among individuals is a different approach in every case.
Precision medicine has been decades in the making and is the next step in our use of genetics to shape biology, health research, and clinical practice. The majority of advances in genetics research—the description of DNA and elucidation of its double-helical structure, interpreting its coded messages, mapping the human chromosomes, sequencing the human genome and much more—has mostly occurred since the early 1950s. The current goal of precision medicine is to leverage our understanding of genetics and disease to provide individualized treatments. The most notable advances have come in cancer therapy where clinicians and scientists are now able to target malignant cells with unprecedented specificity. What is also emerging is a growing appreciation for the importance of the interaction between genetic material and the environment: epigenetics. While early studies of genetic diseases have had some success pinpointing defective sequences, the majority of the most common diseases do not appear to be explained so simply. In many cases, it is not enough to have a defective gene buried deep within the genome; one must also have the necessary confluence of other contributing factors to manifest the disease. This has spawned an entirely different branch of research into ways to manage and prevent disease through control of these external contributing factors, nutrition, antioxidants, metabalomics, the human biome, and other strategies.
In parallel with these scientific discoveries in genetics, there have been critical debates about the moral, ethical, and social dilemmas arising from this fountain of new knowledge. Part of the National Institutes of Health’s (NIH’s) precision medicine initiative is to develop the tools and techniques needed to manage and analyze massive data sets containing genetic information from more than 1 million individual patients, while protecting their privacy. Over the next several years, the NIH will recruit a cohort of more than 1 million participants and obtain genetic sequence data from as many of these individuals as possible. It is possible to protect this private information, but history provides many examples of ethical failures in biomedical research.
As part of the 2017 American Academy of Optometry annual meeting in Chicago this year, the Hirsch Symposium (Thursday, October 12; 8–10 am) will feature three extraordinary speakers who will address the topic of precision medicine: Bruce Korf, MD, PhD; Dara Richardson-Heron, MD; and Thomas May, PhD. This 2-hour session will bring to our community some of the top leaders in clinical genetics, the NIH’s chief engagement officer for their precision medicine initiative, and a leading ethicist in the field of genetics and health research.
Dr. Korf will begin the session with an introduction to key concepts in genetics and clinical practice to include genetic and genomic testing, pharmacogenetics, and future prospects for genetic screening and genome editing. Dr. Korf is professor and chair of the Department of Genetics at the University of Alabama at Birmingham. He is also director of the Heflin Center for Genomic Sciences and codirector of the UAB–HudsonAlpha Center for Genomic Medicine. As a medical geneticist, pediatrician, and child neurologist, Dr. Korf is recognized as an international leader in the field of medical genetics. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. He chairs the Medical Advisory Committee of the Children’s Tumor Foundation and serves on the CTF Board of Directors. His major research interests are molecular diagnosis of genetic disorders and the natural history, genetics, and treatment of neurofibromatosis. He serves as principal investigator of the Department of Defense–funded Neurofibromatosis Clinical Trials Consortium.
Dr. Richardson-Heron was appointed as the chief engagement officer of the All of Us Research Program in February 2017. Dr. Richardson-Heron will discuss the NIH’s Precision Medicine Initiative and the ambitious All of Us program, which aims to build one of the largest biomedical data sets in the world. This project has a goal to recruit and retain more than 1 million participants from diverse communities across the United States. As chief engagement officer, Dr. Richardson-Heron’s role will be to help forge partnerships with research participants, health care professionals, and national and community-based organizations. She will raise awareness of the program and engage stakeholders, with a special focus on groups that are historically underrepresented in research.
Dr. Richardson-Heron received her clinical training from the New York University School of Medicine. She previously served as the chief executive officer of the Greater New York City Affiliate of Susan G. Komen for the Cure, national chief medical officer at the United Cerebral Palsy Association, and many other leadership roles that have helped develop her connection to health issues and community organizations.
Dr. May will conclude the symposium with discussion on the social, ethical, moral, and philosophical issues related to precision medicine. Dr. May’s research addresses issues at the intersection of medicine, public health, and moral, social, and political philosophy. Dr. May’s special interest lies in issues related to autonomy and health care. His work has addressed how autonomy relates to genomic information, as well as rights to genomic ignorance.
Dr. May is a senior scientist at the HudsonAlpha Institute for Biotechnology in Huntsville, Alabama. He earned his PhD in philosophy from Bowling Green State University in 1994 followed by fellowships at the University of Minnesota Center for Biomedical Ethics and in the Department of Bioethics at the Cleveland Clinic Foundation. He was the director of the Clinical Ethics Center at Memorial Medical Center at Southern Illinois University School of Medicine from 1997 until 2001 and joined the Medical College of Wisconsin in Milwaukee in 2000, where he was director of graduate studies in bioethics. Dr. May held the Ursula Von der Ruhr endowed chair in bioethics and served on the oversight advisory board responsible for identification of candidates for whole genome sequencing of children with health conditions of unknown causes. May has served as an advisor to the Florida Department of Health; the National Vaccine Program Office; and the Biomedical Ethics sections of the American Public Health Association, which he has twice chaired; the American Philosophical Association, as a member of its Committee on Philosophy and Medicine; and the Association for Politics and the Life Sciences.
This symposium should be an excellent chance to look into the future and should be just one of many outstanding programs at this year’s annual meeting. I look forward to seeing you there.
Michael D. Twa, OD, PhD, FAAO
Editor in Chief