Precision Medicine: How We Got Here

Image of dots and lines connected into a grid

It's often been said that the way research happens is serendipitous. One discovery opens the door to another, and that progression is what paves the way to better treatments and perhaps, someday, cures.

Precision medicine all began with the discovery of epidermal growth factor (EGF) and the EGFR receptor by Dr. Stanley Cohen and colleagues in the 1960s and 1970s. EGF is a growth factor that stimulates cell growth by binding to its receptor EGFR. EGFR exists on the cell surface—and helps cells grow and divide.

Mutations involving EGFR lead to its constant activation, which produces uncontrolled cell division and so contributes to the growth of tumors. Armed with this knowledge, researchers developed a class of drugs called tyrosine kinase inhibitors to block the growth signal from EGFR and hopefully stop lung cancer tumors from growing.

The treatment helped some patients, but not all.

Scientists looked further, and using the information from the Human Genome Project, discovered that some tumors had a specific EGRF mutation that made them particularly susceptible to this class of drugs. This mutation kept these tumor cells growing. Scientists targeted this mutation with tyrosine kinase inhibitors. AHA!—the tumors were reduced in size.

Thus began the discovery of other genetic changes in tumors and the search for additional treatments targeting these and other similar mutations. This laid the foundation for what we now call precision or personalized medicine.

Cohen's original discovery of cellular growth factors has proven fundamental to understanding the development of cancer and designing anti-cancer drugs. The very nature of lung cancer treatment has changed, as we have drugs that attack the tumors themselves. Today lung tumors can be tested for mutations like EGFR, ALK and KRAS—more mutations are being discovered, and more drugs tested on these mutations with the potential to reduce cancer mortality.

Precision medicine now plays a major role in the treatment of lung cancer, the #1 cancer killer of women and men in the U.S. Targeted therapies that focus on addressing specific mutations in these cancer cells continue to be developed. Not only are these therapies often highly effective, but they also have fewer side effects than traditional chemotherapy.

Advances in precision medicine have led to lifesaving discoveries and treatments and the foundation is there for development of even tools, linking specific cell changes to specific treatments. In fact, last year President Obama launched the Precision Medicine Initiative, with a mission "To enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of individualized treatments."

The hope of this initiative is that precision medicine becomes the clinical norm; that it can bring us closer to curing not just cancer, but other diseases such asthma and COPD, and that it can give us the tools to keep our families healthy.

Screenshot of twitter post from NIH about precision medicine A tweet from National Institutes of Health the morning of Obama's announcement reads: "Basic research sometimes leads us down blind alleys & don't always pay off. When they do, they lead us to new frontiers #PrecisionMedicine."

When you look back on the path of medical research, it's not a straight one. It's not linear. Basic research leads to discoveries that, sometimes surprisingly, help control and cure conditions and diseases that have an important impact on society. And the progress that is made is a culmination of effort on many levels, and from many different fronts... and, perhaps, the fortunate stroke of serendipity.

Learn more about the Lung Association’s research efforts.

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Related Topics: LUNG FORCE, Research, Science,

  • Susan Rappaport
    National Vice President, Research & Scientific Affairs
    Susan Rappaport is the American Lung Association's National Vice President, Research & Scientific Affairs.

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