PHILADELPHIA – Just like a massive iceberg jutting out of the ocean, many of cancer's genetic underpinnings remain hidden under the surface, impossible to predict or map from above. The foreboding shadows and shapes that appear on CT scans and MRIs – and even in the field that doctors see when they zoom in to look at cancer cells under a high-powered microscope – are just the tip of the iceberg.
Penn Medicine's new Center for Personalized Diagnostics, a joint initiative of the department of Pathology and Laboratory Medicine in the Perelman School of Medicine and the Abramson Cancer Center, is diving deeper into each patient's tumor with next generation DNA sequencing. These specialized tests can refine patient diagnoses with greater precision than standard imaging tests and blood work, all with an aim to broaden treatment options and improve their efficacy.
"We're using the most advanced diagnostic methods to unlock cancer's secrets," says David B. Roth, MD, PhD, chairman of the department of Pathology and Laboratory Medicine. "A tumor's genomic profile is the most critical piece of information for an oncologist to have when they're deciding what therapy to recommend. The results of tests in the Center for Personalized Diagnostics reveal a genetic blueprint of each patient's tumor that is as discrete and singular as a fingerprint."
The Center for Personalized Diagnostics unites top experts in genomic analysis, bioinformatics, and cancer genetics – who use the most sensitive data analysis tools available to identify the rarest of mutations – with oncologists who treat patients and design clinical trials to test new therapies. Together, their efforts will provide cancer patients with cutting-edge diagnostic and therapeutic options.
The first group of patients who are undergoing testing through the CPD includes those with blood cancers and solid tumors of the brain, melanoma, and lung. Throughout 2013, the tests will be expanded for a wider range of cancer patients. Results are available within two weeks – twice as fast as most commercially available testing panels. All new and relapsed Abramson Cancer Center patients will receive this testing – conducted via simple blood tests and/or biopsy of tumor tissue or bone marrow – as part of their evaluation and diagnostic process. Interpretation of results is communicated one-on-one to patients and their caregivers by physicians and genetic counselors.
In contrast to the CPD's offerings, individual genetic tests – which now proliferate in the marketplace, even for healthy people who may be interested in going on a spelunking expedition through their DNA – are time consuming and expensive to conduct, and they often yield information which is not clinically actionable. When these tests are offered for cancer patients, patients are often left with only a veritable alphabet soup detailing genetic information, with few plans for how to use those findings to conquer their cancer.
Since the CPD began operating in early 2013, however, tests in 80 percent of patients revealed genetic mutations that may be used to alter their treatment course or clarify their prognosis. The results are playing a role in:
The Center's research agenda operates in parallel with its clinical care mission. Each patient's test results will add to an enormous repository of genomic mutation profiles that, combined with the ability to follow patients over time, will help clinical researchers identify new markers and mutation profiles to better predict the course of an individual patient's treatment response and suggest new targets for therapy. As new mutations are detected and novel treatment options are identified, the gene testing panels will be modified and expanded, creating an evolving, real-time mutation profiling option.
"We see 11,500 newly diagnosed patients each year in the Abramson Cancer, and hundreds of others who seek our help when their cancers have not responded, or have returned, after receiving standard therapies elsewhere," said Chi Van Dang, MD, PhD, director of the Abramson Cancer Center. "A key part of our mission is to provide each of these patients these tests as soon as possible, so that we can quickly tailor a treatment regimen that provides them the greatest chance of a cure."
ON THE WEB:
Penn Medicine Center for Personalized Diagnostics http://www.pennmedicine.org/personalized-diagnostics/
Abramson Cancer Center of the University of Pennsylvania: http://www.penncancer.org
Penn Medicine Department of Pathology and Laboratory Medicine http://pathology.uphs.upenn.edu/
Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $4.3 billion enterprise.
The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 16 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $398 million awarded in the 2012 fiscal year.
The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Penn Medicine also includes additional patient care facilities and services throughout the Philadelphia region. Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2012, Penn Medicine provided $827 million to benefit our community.
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