Personalized medicine goes far beyond genetics

Since the Human Genome Project was completed in 2003, most public considerations of personalized medicine have focused on genetically targeted treatments. As The New York Times recently reported, genetic testing and targeted therapies have, for example, introduced a “totally different world” that replaces one-size-fits-all chemotherapy with tailored treatment options for individuals with certain genetically defined breast and lung cancers.

Though rightly emphasizing an area of tremendous biomedical progress, the focus on genetics has left the impression that personalized medicine has relatively narrow applications, mainly for people with certain cancers and rare diseases.

Through my work with the Personalized Medicine Coalition, an education and advocacy organization, I am aware of some of the newest developments in this area. I believe that it is time to expand the thinking about this evolving approach to medicine.

In its simplest sense, personalized medicine acknowledges that no two people will encounter the health care system in exactly the same way. Viewed through this larger lens, it assumes that the more closely health care can be tailored to each individual’s biological characteristics, circumstances, and values, the better off they — and the health care system — will be.

The tragically uneven effects of Covid-19 across racial, ethnic, and socioeconomically defined groups should expand the horizons for thinking about personalized medicine. Considering the pandemic’s disproportionate impact on disadvantaged populations, no one can continue pretending nothing will be lost if health care stays locked into a one-size-fits-all paradigm. Nor can the focus remain on the influence of genetics when it is abundantly clear that there are multiple factors that could and should be integrated into health care decision-making.

In this context, genetically guided prevention and treatment should be understood as part of a broader movement toward personalized health care that also accounts for the wide-ranging needs and preferences of diverse patient populations. Appreciating personalized medicine this way becomes an opportunity to align health care more closely with the entire scope of biological and environmental factors that shape the health and well-being of every individual. It provides a conceptual framework through which biological insights can be combined with an understanding of each patient’s circumstances to ensure that every person receives the right prevention or treatment strategy at the right time.

Consider individuals with sickle cell anemia, a rare genetic disease that disproportionately affects Black Americans. Affecting more than 70,000 people in the U.S. alone, it causes the body to make misshapen red blood cells. Scientists are closing in on a cure for sickle cell disease by altering individuals’ DNA through gene therapy and gene editing.

People with sickle cell disease experience excruciating pain, organ degeneration, and reduced life expectancy. The Centers for Disease Control and Prevention notes that many people living with this disease also have difficulty accessing the coordinated team-based health care they need to most effectively combat the disease. Combining genetically based treatments with expanded consultation options may give people with sickle cell disease opportunities to address the root cause of their illness while also empowering them to benefit from conversations with a broader range of specialists, bringing them new hope.

Opportunities abound for personalized medicine to improve care across a wide range of diseases. In many instances, these opportunities underline the importance of robust conversations between patients and their doctors. For example, new guidelines from the U.S. Preventive Services Task Force suggest that the presently broad-based use of aspirin to reduce the potential for heart attack or stroke among high-risk individuals should be reconsidered with greater attention to the specifics of each person’s case.

The task force has also embraced the latest at-home tests for colorectal cancer, which could be especially useful for individuals with outsized risks of dying if they were to contract Covid-19 during an in-person appointment for a colonoscopy. The CDC specifies target populations for Covid-19 booster vaccinations with reference to age and underlying medical conditions as well as living and working conditions.

In an era characterized by new conceptions of what is possible in medicine, it is time to broaden the understanding of what it means to personalize health care.

Christopher J. Wells is the vice president of public affairs at the Personalized Medicine Coalition, an education and advocacy organization in Washington, D.C.