Precision medicine and the cancer “moonshot”

July 20, 2016

What will be the impact of these initiatives on laboratory medicine?

In his State of the Union address delivered in January 2015, President Obama announced the launch of his administration’s Precision Medicine Initiative. In his 2016 Address, the president challenged medical science to commit to a “Moonshot” to find a cure for cancer. Both initiatives are extremely worthwhile, and it is invaluable for medical science to have the “bully pulpit” of the presidency behind critical research. Of course, implementing the programs will be difficult, and the impact they will have on the healthcare system will be significant. Also, the two initiatives are best understood as overlapping to some degree; cancer, after all, is one of the diseases/disorders that is most amenable to a precision medicine approach.

Precision medicine and cancer

Precision medicine is often defined as the process of finding a specific treatment based on the individual characteristics of each individual patient. In actuality, it is not meant to treat each person uniquely, but to find subgroups of people with the same genetic characteristics for which unique treatments are applicable.

Cancer is the one disease for which precision medicine is already being applied. “Targeted” drugs have been developed based on genetic variations and mutations found in particular tumors. The president’s initiative wants to apply precision medicine to other diseases as well, including Alzheimer’s disease, obesity, diabetes, and mental illness. In fact, genetic testing is currently available for 2,000 medical conditions, although most of these will not be included in the initiatives, at least for now. So, what can we expect with the conditions that will be involved?

Although there have been successes with cancer, there have also been many failures. Part of the reason is that precision medicine is more than just genetics; it also involves epigenetics, which relates to lifestyle and environmental factors that modify the expression of the genes. So it is not as simple as identifying dysfunctional genes and finding a treatment to block or modify them. With specific cancers, we may only be dealing with a few genes and a few epigenetic factors; other diseases may involve dozens of genes and epigenetic factors, and thus the process may be much more complex.

The “Moonshot” metaphor hearkens back to President Kennedy’s 1961 challenge to the Space Program to put an American on the moon by the end of the 1960s. (The goal was met with Apollo 11 in July 1969.) As such, it is a powerful call to action. President Obama did not set a timetable to “cure” cancer, and doing so would in fact be unrealistic. This is because there are more than 100 different types of cancer, and even more subtypes of those cancers. Cancers also are very “devious”; for example, some have developed methods of preventing detection from the immune system as well and mutating to become resistant to various treatments. The failures of precision medicine in the cancer arena, and the fact that successes have been relatively few for only a handful of cancer subtypes, demonstrate the difficulties. In fact, most cancer experts doubt that cancer will ever be eliminated totally.

It is also important to realize that both initiatives will require enormous amounts of money, research, and extensive collaboration among all medical providers. They may also change the way medicine is practiced and taught and how healthcare is provided to each person and reimbursed to each medical provider. They will also require a significant change in the way research is conducted and applied.

The role of laboratory medicine

The two initiatives will also profoundly affect laboratory medicine, as labs will play a significant role. Labs will be at the forefront of both initiatives and may reap financial benefits from their involvement. After all, both initiatives are fundamentally based on testing. First, they will involve genetic testing, which has become less expensive year by year, and in the near future may be feasibly accomplished by virtually any clinical lab. Such testing is not used only to determine individual characteristics of the patient, but also of a tumor or the tissues involved in other diseases. In addition, the effect of epigenetic variables will also have to be tested. This will involve not only newly developed lab tests, but also the correlation of present lab tests that reflect epigenetic factors. Even basic chemistries and tissue testing may eventually impact whether or not a specific treatment can be applied successfully.

In addition, for the “Moonshot,” additional research will attempt to find elements in the body’s tissues (including blood) that can detect cancer before it is discovered by other means. Both initiatives will also require tests from body tissues and tumor tissues that will determine whether a specific treatment will or will not be effective. A present example is the K-ras determination for metastatic colon cancer; studies show that patients whose tumors express the mutated version of the KRAS gene will not respond to two specific chemotherapy agents. On the other hand, if a breast or esophageal cancer has a mutation in the Her2Neu gene, there are two chemotherapies that can “target” and slow or destroy the growth of the cancer. A great effort will be made to find similar gene mutations and correlate them to various treatments; this applies not just to cancer but to other chronic diseases as well.

In sum, these two initiatives will significantly impact the way medicine is practiced. They both hold promise to stimulate new discoveries, but such discoveries most likely will be incremental. The process will also take a long time; we should think in terms of decades, not years. We should also realize that they are enormous undertakings and will require substantial resources, which may wax and wane depending on the progress observed and the priorities of political leadership. And, certainly, laboratory medicine will be integrally involved.

Larry Altshuler, MD, is the author of DOCTOR, SAY WHAT? The Inside Scoop to Getting the Best Health Care and DOCTOR, SAY WHAT? The Guides: What Works and What Doesn’t for Over 90 Medical Conditions. He is a practicing internist, hospitalist, and integrative practitioner at a major cancer center in the Midwest.