For Molecular Pathology, the goal of this one month combined rotation (with Clinical Immunogenetics or Clinical Informatics) is to expose the resident to the principles and practice of diagnostic molecular pathology in the day-to-day laboratory setting. Using primarily a case-based learning system supplemented with didactic and selected reading material, the resident will be exposed to our laboratory's diverse applications in molecular diagnosis of genetic diseases, cancer, and individual identification by DNA fingerprinting. The resident will observe and participate in all aspects of specimen handling, case workups, and results reporting. Key molecular biologic procedures such as polymerase chain reaction and DNA sequencing (both Sanger and Next-Generation) will be introduced. In addition, the resident will be exposed to quality assurance activities such as internal quality control and inter-laboratory proficiency testing; laboratory management including specimen triage, budgeting, licensing, accreditation, patent issues, ethical and legal issues, and decisions regarding new test development and interfacing with other clinical laboratories; and communication with referring clinicians and genetic counselors. Residents will also be exposed to our Orphan Disease Testing Center, dedicated to the molecular diagnosis of rare genetic disorders, to our Clinical Genomics Center, where the comprehensive sequencing of a patient's entire exome (all of the coding regions in the genome) is performed and interpreted for a variety of clinical indications, and to outpatient and inpatient consultative activities in medical genetics. Time permitting, there will be opportunities for independent research and developmental projects.
Laboratory Management Activities