The Promise of Precision Medicine

Historically, doctors have had to make most recommendations about disease prevention and treatment based on the expected response of an average patient.  This one-size-fits-all approach works well for some patients and some conditions, but not so much for others. Precision medicine is an innovative approach that takes into account individual differences in patients’ genes, environments, and lifestyles.  Millions of people have already been touched by the area of precision medicine that has grown directly from biomedical research.

Precision Oncology

It’s still the case in most medical care systems that cancers are classified mainly by the type of tissue or part of the body in which they arose: lung, brain, breast, colon, pancreas, and so on. But a radical change is underway. Researchers are now identifying the molecular fingerprints of various cancers and using them to divide cancer’s once-broad categories into far more precise types and subtypes. They are also discovering that cancers that develop in totally different parts of the body can sometimes, on a molecular level, have a lot in common. From this new perspective emerges an exciting era in cancer research called precision oncology, in which doctors are choosing treatments based on the DNA signature of an individual patient’s tumor. In one example, using advanced technology to analyze both tumor and blood samples from a large number of children who’d been newly diagnosed with cancer, NIH researchers uncovered genetic signatures that could refine diagnosis, identify inherited cancer susceptibility, or guide treatment for nearly 40 percent of the children.

Cancer Immunotherapy

Another powerful ally in precision oncology has been there all along – the body’s immune system. Our immune system’s natural ability to detect and destroy abnormal cells prevents many cancers from ever developing, just like it protects us from infections. However, cancer cells can sometimes evade this system of immune surveillance. In the relatively new field of cancer immunotherapy, scientists are beating cancer cells at their own game – enlisting a person’s own immune system to control and, in some cases, even cure their cancer. Decades of NIH research has led to several types of cancer immunotherapy drugs. These include mimics of natural immune-system molecules, such as anti-cancer antibodies, supercharged immune cells, or treatment vaccines that “teach” an individual’s immune system to attack tumors. Because the treatments enlist the immune system, they do not kill every dividing cell like traditional chemotherapy drugs. Unfortunately, they don’t yet work in everyone. NIH researchers, however, are busy investigating the factors that affect whether a tumor will respond to immunotherapy, providing clues for matching tumors to drugs.

Pharmacogenomics

In the 1970s, NIH research gave us genetic engineering and launched what is today the $100 billion biotechnology industry, a major source of high-paying U.S. jobs. Virtually every biomedical research lab and pharmaceutical company uses the power of the genomic revolution every day to demystify diseases and search for new cures. Companies today can read the entire DNA sequence of an individual for less than $1,000, and the cost is dropping quickly. This ability to study massive amounts of DNA has helped the field of pharmacogenomics mature rapidly. In this area of science, researchers match DNA patterns in individuals with how they respond to medications. The goal is to move away from one-size-fits-all dosing – because we now know that many factors aside from sex, age, and body size influence how our bodies react, or don’t, to many drugs. Research results in this important area of biomedicine have prompted FDA to include pharmacogenomic information in drug labeling, toward more precise and safer drug responses for patients. A significant goal of precision medicine is to implement this strategy broadly in medical care – focusing on the right drug at the right dose at the right time for the right patient.

Rare Diseases

Rare diseases were once considered medical curiosities with little public-health impact. But though such diseases are individually rare, collectively an estimated 25 to 30 million Americans are affected. NIH’s Undiagnosed Disease Program focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. UDP has received nearly 10,000 inquiries, reviewed more than 3,000 applications, and admitted about 900 patients to the NIH Clinical Center for comprehensive weeklong evaluations. Some of these patients with rare diseases have taught us more about common conditions such as osteoporosis, kidney stones, and viral infections. Building on the early successes of the NIH UDP, NIH has extended the program into a network of sites across the country. Advances in diagnosis of rare diseases are gratifying, but are not enough: Of the 7,000 identified rare and neglected diseases for which we know the molecular cause, only about 500 have approved treatments. Through the Therapeutics for Rare and Neglected Diseases program of the National Center for Advancing Translational Sciences (NCATS) and other research efforts, NIH is collaborating with multiple partners to speed up the development of effective treatments.

Looking Forward

Throughout this brochure, example after example shows – through countless stories and statistics– how NIH is turning discovery into health. NIH research saves lives and strengthens our economy through job creation and improved quality of life for millions of Americans. There is little doubt that this research investment is one of the wisest moves we can make as a nation.

NIH is also a leading source of scientific knowledge for the world, which bolsters the nation’s strength in lasting ways. NIH fundamental research has led to 153 Nobel Prizes and 198 Lasker Prizes. Often dubbed “America’s Nobel,” the Lasker Prize honors groundbreaking contributions to our understanding of human disease.

And for thousands of patients around the world, NIH is known as the “National Institutes of Hope.” Since the NIH Clinical Center opened in 1953, more than half a million patients from all over the world who qualify for studies have come here to be treated, often when no other options remain. 

Their participation in clinical research has brought forth numerous advances, some shown on the facing page, and is vital in our ongoing quest to improve health for all Americans.