Laboratory Genetics and Genomics Fellowship | Pathology & Immunology

The Laboratory Genetics and Genomics fellowship trains fellows to direct and interpret clinical cytogenetic and molecular genetic tests relevant to the diagnosis and management of human genetic diseases. Diplomates certified in Laboratory Genetics and Genomics act as director and/or consultants in laboratory diagnoses for a broad range of inherited and acquired conditions, including those of Mendelian and chromosomal origin.

History

The laboratory genetics and genomics (LGG) fellowship was accredited by the American Board of Medical Genetics and Genomics on December 15, 2017. The LGG fellowship has combined the elements of the previous clinical cytogenetics and clinical molecular genetics fellowships into one new fellowship in laboratory genetics and genomics.

Curriculum

The 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:

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

Facilities

Training for the fellowship occurs in state-of-the-art facilities at Washington University School of Medicine, Barnes-Jewish Hospital, and St. Louis Children’s Hospital. The Laboratory Genetics and Genomics site is located in a state-of-the-art building on the edge of the medical campus known as the CORTEX District (Center of Research, Technology and Entrepreneurial Exchange).

Requirements

Program applicants have doctoral degrees (PhD or MD) in the biological/biochemical sciences or medicine.

Application

The application process for the 2026-2028 position will open April 1, 2025.

For general questions, contact Naomi Burr at burr@wustl.edu.

Faculty and trainees

Faculty

Kevin Bowling, PhD

Associate Professor, Pathology & Immunology
Technical Director of Clinical and Translational Genomics

Phone: 314-362-8672
Email: bowling@wustl.edu