Center for Personalized Diagnostics

The Center for Personalized Diagnostics (CPD), a joint initiative between Penn Medicine's Department of Pathology and Laboratory Medicine and the Abramson Cancer Center, integrates Molecular Genetics, Pathology Informatics, and Genomic Pathology for individualized patient diagnoses and to elucidate cancer treatment options for physicians.

Massively parallel DNA sequencing has made it possible to identify a set of molecular changes and genomic signatures in the DNA of tumor cells that are distinct for tumor subtypes, that are not readily elucidated on the microscopic level—and that can reveal a genetic blueprint of the patient's tumor as discrete and singular as a fingerprint.

Because these mutation signatures can indicate whether and how a patient will respond to treatment, the CPD empowers physicians and patients to custom-tailor and individualize their treatment options accordingly.

Genomic Testing and Therapeutic Pathology

The CAP/CLIA certified Center enables personalized therapies by offering genome-wide precision diagnostics to identify the specific tumor characteristics for each patient. In fact, of all the tumor patients tested to date, approximately 75% of them have received genomic testing results that altered prognosis or empowered the treating oncologists to alter the patients' treatment therapy or both.

The CPD will also serve as a cancer research center to detect clinical correlations for treatment and outcome, with the goal to identify prognostic markers for future diagnostic and treatment options.

The CPD is tightly integrated with the clinical mission at Penn medicine and works in close concert with oncologists and other physicians. In addition, the CPD leadership is part of the Abramson Cancer Center experimental therapeutics tumor board.

The instrumentation includes the Illumina HiSeq 2500, two Illumina MiSeq sequencers and a Personal Genome machine, all of which are instrumental in the detection and sequencing of genomic DNA and capable of detecting low-level mutation loads in tumor specimens.

The CPD was created to integrate genomic and pathologic information for clinical benefit on the basis of customized computational methods. These developments combine bio-informatics, genomic data and clinical knowledge in order to develop a comprehensive, personalized therapeutic approach for patients and their physicians.

This "next-generation" genomic sequencing technology provides the foundation for any form of truly personalized medicine by making individualized cancer mutation detection and predictive testing for cancer therapies possible.

Clinical Genetic Tests and Tumor Biomarkers

The current focus of the Center will be to report clinically useful mutations from specific targeted disease areas:

• Hematologic malignancies (including: leukemias)
• Solid tumors (including: brain, melanoma, and lung tumors)

In the near future, these tests will be expanded to include a wider range of malignancies so that all patients can benefit from the increased scrutiny of mutations present in tumor tissue.

The goal is to prospectively collect genomic mutation profiles and follow patients over time, so that the CPD can aid clinical researchers in the identification of new markers/mutation profiles to better predict the course of an individual patient's treatment response and suggest new targets for therapy. Additionally, the gene panels will be modified and expanded as new mutations and treatments are found, creating a dynamic process of mutation profiling with medically actionable targets.