Laboratory Genetics and Genomics Fellowship

ConteThe training includes rotations through molecular diagnostics, cytogenetics and genomics, biochemical genetics and clinical genetics in the laboratories and clinics of Barnes Jewish Hospital (BJH), and Washington University School of Medicine. Program faculty are all members of the faculty at Washington University and/or the clinical staff of BJH. The hospital and associated clinical sites for outpatient care are located on the same campus as the medical school. Prenatal, neonatal, pediatric, adult, and oncology specimens are tested by the Department of Pathology and Immunology and the BJH labs. Fellows are exposed to all aspects of laboratory genetics and genomics assays including laboratory management, regulatory oversight and communication, with ordering clinicians and patients. Daily teaching conferences are integrated with the pathology training programs of the Department of Pathology and Immunology. Fellows present clinical and research cases regularly throughout the fellowship.

Primary educational goals are to allow trainees to develop the skills to:

Communicate cytogenetic and molecular genetic laboratory results directly to patients, when necessary, and in conjunction with other members of the clinical teamnt here

Supervise and direct operations of a clinical molecular genetics or clinical cytogenetics diagnostic laboratory, including technical expertise, understanding of quality control and assessment procedures and adherence to regulatory requirements (e.g., CLIA, CAP)

Understand basic molecular biology, chromosome biology, genomic mechanisms of disease etiology, as well as the natural history and clinical management of disorders with a cytogenetic or molecular basis

Select and apply the most appropriate current and evolving technologies, including cytogenetic and molecular genetic methodologies, to diagnose human disease

Guide the development and validation of appropriate assays used in the evaluation of disorders with a chromosomal or molecular basis

Interpret a broad range of genetic diagnostic tests, including methodologies that assess for chromosomal aneuploidies, structural chromosome rearrangements, genomic copy number variants, single nucleotide variants, structural changes within single genes, and absence or loss of heterozygosity

Analyze various tissue types, such as tumors, cell-free DNA, bone marrow, fibroblasts, and saliva

Integrate clinical data into an individualized interpretation of laboratory results

Communicate and facilitate discussions of laboratory results with referring providers, to allow a team approach to guiding further testing and clinical management