Technology and Resources
Center for Bioethics and Health Law (CBHL)
Personalized medicine, and the research needed to make it a reality, present ethical issues addressed by faculty members and research projects at the University of Pittsburgh Center for Bioethics and Health Law (CBHL). Informed consent for biobank participation and pharmacogenomic research, return of individualized research results, Next Generation Sequencing and the management of incidental findings, privacy protection, and policy issues of access to personalized medicine are addressed by the CBHL faculty through collaborative research and educational programming for a variety of audiences.
IT Resources and Infrastructure
The Personalized Cancer Medicine Information Management System (PCMIMS) is a joint venture of the UPMC CancerCenter, UPCI, and UPMC Enterprise Analytics that will be the foundation for our evolving efforts in developing and delivering personalized cancer care. This vision includes providing an adequate Information Technology (IT) infrastructure which will enable clinicians and researchers to perform cohort discoveries, manage datasets and perform complex analysis all in a secure and traceable environment.
Next Gen Technologies, Next Generation Sequencing (NGS)
Next Generation Sequencing (NGS) involves the use of massively parallel DNA sequencing to identify mutations in tumors comprising single base substitutions, insertions and deletions, structural rearrangements and gains and losses of DNA. This technology provides the opportunity to identify genetic (driver) mutations underlying tumorigenesis in order to establish novel therapeutic targets, optimize drug selection for intervention and to define markers for early tumor diagnosis.
The Cancer Genomics Facility (CGF) possesses state-of-the-art NGS equipment for comprehensive coverage of whole genomes and exomes as well as whole transcriptome profiling. In addition, the facility offers a variety of targeted sequencing assays to assess specific genes and genomic domains associated with cancer. Unlike traditional Sanger sequencing, entire human genomes can be generated in less than a week and targeted assays can be performed in a day. The facility specializes in the processing and interrogation of difficult tumor specimens ranging from samples embedded in paraffin after formalin fixation to rare tumors present in miniscule amounts.
Pharmacogenomics is a branch of pharmacology that studies the effects of an individual’s genetics on medication response or interactions. The goal is to develop specialized, or personalized, therapies to maximize the effectiveness of cancer treatment, optimized for each patient’s unique genetic makeup.
Recognition of drug-drug interactions and pharmacogenetic differences in drug metabolism, disposition, and susceptibility has increased the need for assays to define relevant polymorphisms and their clinical impact. The UPCI Clinical Pharmacology Analytical Facility (CPAF) provides accessible, economical, comprehensive, and state-of-the-art pharmacology research services that support preclinical and clinical research programs at UPCI and medical institutions nationwide.