Precision medicine is ‘personalized, problematic, and promising’

Precision medicine is ‘personalized, problematic, and promising’.
From the  10 July 2015 University of Pennsylvania news release

Since President Barack Obama’s State of the Union Address in January 2015, the nation has been talking about a revolution in patient care, known by many as precision medicine.

Of course, the country is used to hearing the president talk about health care, especially the Affordable Care Act. But when the White House starts launching $215 million initiatives to accelerate research—in this case, the Precision Medicine Initiative, according to a White House Press release—you can be sure it’s not just a passing fad.

First, what is precision medicine?

Precision medicine is about tailoring treatments to the patient’s genome and body function. The promise is that this detailed personal health data can determine what’s most effective for each individual, which can lead to better outcomes.

Most of precision medicine’s application currently focuses on cancer. Launched in 2013, Penn Medicine’s Center for Personalized Diagnostics (CPD) helps oncologists determine the best treatment for their cancer patients by looking at the cancer’s genome.

Here’s how precision medicine is being practiced at Penn:

1. A patient is diagnosed with cancer.
2. If the cancer involves a solid tumor—like breast, lung, or colon cancer—the tumor is surgically removed during a biopsy, and a chunk of the tissue is sent to Penn Medicine’s CPD. If the cancer involves blood or bone marrow—like leukemia—a sample of the blood or bone marrow is sent.
3. The CPD sequences a panel of genes that are known to be involved in cancer. This test examines DNA within the tumor, blood or bone marrow sample. The goal is to find DNA mutations that are driving the cancer.
4. A report on the mutations found is sent to the patient’s oncologist.
5. The oncologist determines if there are therapies or treatments available that work better than others—or not at all—on the patient’s particular type of cancer.

“We’re using precision medicine to give patients the right drugs, guided by the DNA sequence information from their cancer, so we’re not exposing them to potentially toxic effects,” explains David Roth, MD, PhD, director of the CPD. “This individualized therapy is better than treatment based on the ‘average patient.’”

Precision Medicine is being researched, translated and applied across Penn Medicine. Here,
experts from the Center for Personalized Diagnostics share four predictions on how precision medicine will change how cancer is treated in future generations.

1. Cancer will be diagnosed earlier.

Jennifer Morrissette, PhD, clinical director of the CPD:

“There are different stages of tumors. The earlier you catch the tumor, the more likely you are to survive it. My theory is that this century will be the century of diagnostics. We will be diagnosing people’s cancers earlier and earlier.

“That way, we are not dealing with advanced metastatic tumors that have acquired so many different changes that they’re hard to treat. We’ll be capturing tumors very early, in stage one; have a definitive surgery; follow the patient for a certain number of years to make sure that the cancer hasn’t spread; and then they’ll be cured.

“Some people put off seeing a physician because they don’t want chemo, but the longer they put it off, the more likely they are going to have metastatic disease.”

2. Cancer treatment will be based on each person’s health profile.

David Roth, MD, PhD, director of the CPD:

“[In the past,] doctors had been treating [the average patient] based upon results from a large study.

“The revolution in precision medicine is that now we have better tools to understand what’s going on with you as an individual. Instead of saying, ‘Okay, you have this particular cancer, and you have a 30 percent chance. So, go ahead and get this toxic therapy,’ we can be much more specific.

“If we were able to tell you that you have a five percent chance of responding to a chemotherapy based on the makeup of your tumor, would you still do it?”

3. Gene paneling will be used for diagnosis, not just treatment.

David Lieberman, MS, CGC (certified genetic counselor):

“We tend to see certain genes mutated in certain cancers. For example, there is a certain set of
genes [that are] typically mutated in lung cancer or another set in lymphoma.

“It is not always clear using historical methods what type of cancer a patient has. This makes treatment decisions challenging. Sequencing the tumor’s DNA on a panel of known cancer-related genes may help clarify the cancer’s origin and, in this way, assist the clinician in determining treatment or prognosis.”

$215 million: The amount the White House will invest in the Precision Medicine Initiative in 2016
Source: WhiteHouse.gov

4. More cancer patients will have a treatment team, rather than just an       oncologist.

Jennifer Morrissette PhD, clinical director of the CPD:

“It’s not going to be one physician making all the decisions. Cancer treatment has gotten much more complex. Because of the availability of multi-gene testing, you need a group of people with different types of expertise to make the best decision for a patient.

“In addition to the team directing care for the appropriate approach—whether it’s surgery, radiation, chemotherapy, pain management—now there is also the genetic component.

“[The team’s] able to sit in a room with people from the lab who can talk about what the result means, have the oncologist tell them about the patient and then get the clinical geneticist’s notion that there may be an inherited predisposition. Then, they walk out with a consolidated treatment plan for that patient.”

The future of medicine

For more than 250 years, advancements like “precision medicine” have been the hallmark of Penn Medicine. As the first school of medicine in the United States, it has been and continues to be a place where the future of medicine and the future leaders in medicine are being developed.

Promise of genomics research needs a realistic view

Promise of genomics research needs a realistic view

This is James P. Evans, M.D., Ph.D., of the University of North Carolina at Chapel Hill.

From the February 17, 2011 Eureka news alert

In the ten years since the human genetic code was mapped, expectations among scientists, health care industry, policy makers, and the public have remained high concerning the promise of genomics research for improving health.

But a new commentary by four internationally prominent genetic medicine and bioethics experts cautions against the dangers of inflated expectations – an unsustainable genomic bubble – and it offers ways to avoid it while still realizing “the true – and considerable – promise of the genomic revolution.”

“This commentary is an attempt to bring some balance to the hopes and claims that swirl around the issue of genomic medicine. It is a cautionary essay that tries to extol the real and formidable potential of genomic medicine but also attempts to counter what we see as exaggerated claims, said lead author medical geneticist James P. Evans, MD, PhD, Bryson Distinguished Professor of Genetics and Medicine at the University of North Carolina at Chapel Hill and the UNC Lineberger Comprehensive Cancer Center.

“Our fear is that if we are uncritical and naïve in our enthusiasm for these exciting technologies we risk both diversion of precious resources and premature implementation which could hurt patients – as well as a backlash which will hurt our field,” Evans warns.

The commentary appears in the February 18, 2011 issue of the journal Science. Co-authors with Evans are Eric M. Meslin, PhD, director, Center for Bioethics, Indiana University, Indianapolis; Theresa M. Marteau, PhD, FMedSci, professor of health psychology, Kings College, London, UK; and Timothy Caulfield, LL.M., F.R.S.C., Canada Research Chair in Health Law & Policy, University of Alberta, Edmonton, Alberta.

“Breathtaking” is how the authors describe the progress already made in genomic research. But, they caution, the considerable promise of genomics must be evaluated through a realistic lens. Advances in individualized medicine, or pharmacogenetics for example, still require the importance of human behavior in health outcomes: the most powerful predictor of a drug’s efficacy depends less on genetics than whether the patient takes the drug.

Among the reasons they cite making genomics the persistent recipient of “hyperbole” and inflated expectations, some are tied to impatience for practical applications, market forces and unbridled (but uncritical) enthusiasm. The news media also is named for “playing an obvious role in the creation of unrealistic hopes.”

“These forces act together to produce a kind of “cycle of hype” that drive overly optimistic representations of the research,” said co-author Timothy Caulfield.

In their short-list of recommendations for avoiding inflation of the “genomic bubble, Evans and co-authors offer the following: (1) reevaluate funding priorities to stress behavioral and social science research aimed at behavior change for improving health; (2) foster a realistic understanding “of the incremental nature of science and the need for statistical rigor,” within the scientific community and that the media make more responsible claims for genomic research; (3) maintain a focus on developing high-quality evidence before integrating good ideas into medical practice.

“By highlighting the risks of continuing to promise results from genomic science, we were hoping to draw attention to a more sustainable approach to reaping the benefits from genomic science,” said co-author Eric Meslin.

The authors assert their belief that the current age of genomics will provide great benefits to human health “Ours is not a call to gut existing research or too-rigidly tie funding to degree of disease burden … The pursuit of our common goal – improved human health – demands that we take a hard look at disease causation and order our priorities accordingly.”

 

Related Web sites and articles

The Genomic Revolution (exhibit by the American Museum of Natural History) is an online Web site with videos

(US) Human Genome Project Information

The Genomic Revolution: Unveiling the Unity of Life [online book]

Genome Revolution FOCUS (a Duke University Library Guide)

Genomic Links (online resources for professionals, teachers, and all)