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Penn Medicine's New Center For Personalized Diagnostics Unlocks Cancer's Secrets

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:

  • Matching patients with existing therapies designed to target mutations previously associated only with different cancers. For instance, some lung cancer patients exhibit mutations of the BRAF gene, which is targeted by drug Vemurafenib, initially 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 particular 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 prior to beginning treatment can help oncologists select and dose drugs in a way that will reduce side effects and boost 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.
  • Detecting resistance mutations that could slow or halt patients' response to targeted drugs, which allows for custom-designed combination therapies to attack tumors through multiple pathways.

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.

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