Cancer is fundamentally a disease of the genome. Genome-guided mutation detection can empower the medical oncologist to select cancer treatment therapies specific for tumors harboring these mutations.
While a mutation may only be detected in a small subset of individual cancers, taken together, these mutations are not rare and specific molecular changes exist in all cancers.
Overview of CPD Services
The Center for Personalized Diagnostics offers the highest volume of genome testing in the region. In clinical cases, disease-associated mutations have been reported in 75% of patient tests revealing results with therapeutic significance.
The CPD turnaround time for the vast majority of its reports is 10-14 days. (Note: the capacity of sequencing instruments requires a 3-day minimum, while auxiliary testing to confirm rare mutations may require up to 21 days.)
The genomic sequencing reports are specifically geared toward actionable knowledge for clinicians. The reports focus on normal or abnormal gene information and provide interpretation, comments and references for disease-associated mutations or variants of uncertain significance.
As one of a few institutions worldwide, Penn Medicine's CPD offers unique and custom-developed sequencing panels, built using the latest literature.
Review the gene-sequencing panels that Penn offers.
The CPD continues to benefit from the clinical and translational expertise at Penn as an integrated component of a major academic medical center. One of the results of this thorough and sustained integration is the CPD's precision diagnostics method, which allows for higher sensitivity leading to fewer false negative results. This bioinformatics method was custom-developed at the CPD by testing commercial tools with artificial data sets that demonstrated missed mutations. The CPD's unique computer programs and validation methods can address those inadequacies and can detect mutations that evade many standard analysis pipelines.
CPD Services Under Development
To maintain a position at the leading edge of implementing genomic technologies in a clinical environment, the Center for Personalized Diagnostics is actively engaged in new test development. This includes collaborations to analyze variants from cell-free tumor DNA, develop calculations for tumor mutational burden, detection of microsatellite instability, the addition of lymphoma-specific genes and continuously updating our current panels to keep up with the literature and needs of the Penn community.
If you are a physician looking for information on how to order tests, please visit the For Physicians page.
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. Interested researchers should contact the CPD R&D coordinator.
To get more information:
The Treatments of Tomorrow are Being Designed at Penn Medicine Today
Since the launch of operations in February 2013, the Center for Personalized Diagnostics has performed more than 10,000 advanced diagnostics on patients representing a wide range of cancers. Through cutting-edge and large-scale gene sequencing, we analyze enormous amounts of genetic data to find useful information that could dramatically change the course of treatment and improve outcomes for patients. Our progress is driven by transformational philanthropy and with your continued help, we’ll soon be able to transform the lives of every cancer patient.