Customized Diagnostics Center Designed for Cancer Treatment, New Drug Research

These specialized tests can customize patient diagnoses with greater precision than conventional imaging modalities and blood work-up, all with an objective to enhance treatment plans and improve their effectiveness.

Penn Medicine’s new Center for Personalized Diagnostics (CPD; Philadelphia, PA, USA) is a joint initiative of the department of pathology and laboratory medicine in the Perelman School of Medicine and the Abramson Cancer Center, at the University of Pennsylvania (Philadelphia, PA, USA) “We’re using the most advanced diagnostic methods to unlock cancer’s secrets,” said 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.”

CPD connects leading specialists in bioinformatics, genomic analysis, and cancer genetics—who employ the most sensitive data analysis tools available to identify the rarest of mutations—with oncologists who treat patients and design clinical trials to evaluate new treatments. Their labors combined 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, which was conducted via simple blood tests and/or biopsy of tumor tissue or bone marrow, as part of their evaluation and diagnostic process. Findings interpretation is informed one-on-one to patients and their caregivers by physicians and genetic counselors.

Individual genetic tests--which now expand in the marketplace, in contrast to the CPD’s product range, even for healthy people who may be interested in going on an exploration through their DNA--are time-consuming and expensive to conduct, and they frequently provide data that is not clinically useful or actionable.

Since the CPD began operating in early 2013, however, tests in 80% 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 correlating patients with existing therapies designed to target mutations previously linked with only with different cancers. Various lung cancer patients, for instance, exhibit mutations of the BRAF gene, which is targeted by drug vemurafenib, first developed and approved for melanoma. Testing in the Center for Personalized Diagnostics is helping clinicians make new connections that will expand the indications for existing drugs.

Helping physicians determine which treatments a patient will respond to, or how well they will tolerate a specific treatment. Patients with the blood cancer acute myelogenous leukemia who express a mutation known as DNMT3A, for instance, are known to respond to higher doses of the drug daunorubicin. Learning this type of information before starting treatment can help oncologists select and dose drugs in a way that will reduce side effects and enhance patients’ quality of life during treatment, and increase their chance of completing their prescribed regimen.

Identifying patients who are likely to have a poor prognosis if treated with first-line therapies, which allows clinicians to set up a cascade of alternative therapies or, in the case of some blood cancer patients, expedite the search for a matching bone marrow donor.

The Center’s research strategy operates in tandem with its clinical care mission. Each patient’s test results will add to a massive 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 innovative treatment options are determined, 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.”

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Center for Personalized Diagnostics