Washington University - School of Medicine: Department of Pathology & Immunology

The Program

The Clinical Molecular Genetics Fellowship is a two-year ABMG training program under the direction of Jacqueline Payton, MD, PhD FCAP, Director of the Molecular Diagnostic Laboratory at Washington University School of Medicine, which will begin enrollment in July 2009. The genetics fellow(s) will be supervised by Dr. Payton, an American Board of Pathology (ABP)-certified Clinical Pathologist. The program is designed to prepare doctoral level, biomedical professionals for careers as clinical molecular genetics laboratory directors and consultants with expertise in diagnostic test performance, design, supervision, interpretation and management. Primary educational objectives include:

Learning the essentials of specimen collection, identification and processing
Recognizing the clinical indications for molecular testing, the biologic basis of the test and the technical limitations of the assay; identifying the clinical utility of the test findings as it relates to the care of the patient; and knowing the key components of an effective molecular lab report
Observing, understanding and performing basic molecular genetics laboratory techniques: PCR, RT-PCR, MePCR, real-time PCR, direct DNA sequencing, identity testing, genomic Southern hybridization, gel and capillary electrophoresis
Participating in the education of the molecular laboratory personnel regarding the clinical care of individuals with molecular genetic abnormalities
Facilitating the education of the molecular laboratory personnel, physicians, genetic counselors and other health care professionals about the laboratory detection of molecular genetic abnormalities
Participating with the Laboratory Director in effective communication of molecular genetic results to physicians, genetic counselors, other health care professionals, and patients and their families
Locating, appraising and assimilating evidence from scientific research studies related to molecular genetic results
Using information technology to access online molecular genetic information, manage information and support the resident's personal education in the field
Developing strategies to learn about future advances in the understanding of the molecular basis for disease, to incorporate improved identification, counseling and management of these disorders into laboratory practice

History

Historically, WUSM's Molecular Diagnostic Laboratory (MDL) has provided training to trainees of the ABMG-accredited Clinical Medical Genetics Residency program since 2003. Additionally, surgical pathology and laboratory medicine residents and clinical chemistry fellows receive molecular pathology training during rotations in the MDL.

In addition to these programs, the Department of Pathology and Immunology also supports active subspecialty training in Molecular Genetics Pathology with an ABP-accredited fellowship program as well as a new Clinical Cytogenetics Fellowship within the Division of Laboratory and Genomic Medicine.

The Curriculum

During the first three months of the program, fellows participate in a variety of educational sessions with medical genetics residents and laboratory medicine residents. Sessions include topics such as Introduction to Molecular Diagnostics, Genomics and Clinical Medicine, and Direct Mutation Analysis. The laboratory director provides copies of reference materials to read before each session in order to increase the educational value and stimulate discussion among trainees.

Fellows receive additional training by participating in laboratory didactics, rotations, clinics, coursework, investigative research, case conferences and beeper reports as summarized below:

Educational Experience	Duration
Introductory Laboratory Didactics	2 weeks during the 1st 12 weeks
Prenatal Genetics Rotation	4 weeks during the second 6 months
Genetics Clinic	1 day per week for 20-24 weeks in the first year
Basic Genetics Coursework	1st year of fellowship
Adult/Cancer Genetics Clinic	1 day per week for 8-12 weeks
Research Experience	Second year
Medical Genetics Clinic Case Conference	Weekly throughout 2 years; 3-6 individual presentations
Clinical Chemistry Case Conference	Weekly throughout the academic years; 3-6 individual presentations
Hematopathology Case Conference	Monthly throughout the 2 years; case presentation during months 6-12
Molecular Pathology Beeper Report	Bi-monthly sessions

Each segment of the fellowship includes interpretation sessions for current lab test offerings and explanations of the technical and scientific basis of each lab test. Direct, hands-on experience with a variety of laboratory tests and methods is readily achieved by the fellows through bench work in the Molecular Diagnostic Laboratory. Trainees master each diagnostic assay first by shadowing the clinical lab technologists observing every aspect of the molecular testing and then by performing these methods at the bench with minimal supervision of the lab technical supervisor. The analytical results are reviewed under the direct supervision of the laboratory director.

Pre-analytical techniques are mastered to fully understand the appropriate sample types, handling and preparation of nucleic acids, both DNA and RNA. Trainees receive a solid program of testing to acquire excellent understanding of DNA biochemistry, molecular biology techniques, assay optimization and trouble-shooting necessary for effective design, validation, quality assurance and interpretation within the context of the patient's clinical presentation and other laboratory testing.

Fellows develop new molecular genetic tests for implementation in the clinical laboratory during the second year of the program. This involves the direct supervision and biweekly progress meetings with the laboratory director. The assays chosen for addition to the lab menu may be selected by the laboratory director in response to development in the diagnostic testing field, direct requests from clinicians or translation of basic science discoveries from colleagues.

Additionally, fellows participate in Laboratory Sign-Out rounds with the laboratory director on Monday, Wednesday, and Friday afternoons. During these rounds, trainees work closely with the director to analyze, interpret and report the results of all molecular tests. This experience plus performance at the laboratory bench of all assay categories forms the basis for compilation of the molecular genetic case logbook that is submitted in application for the ABMG board certification examination.

The Facilities

Primary training is conducted in the Molecular Diagnostic Laboratory at Barnes-Jewish Hospital in the Kingshighway Building, 2nd Floor, Room 2320. This laboratory provides comprehensive molecular diagnostic services for a large variety of disorders including autosomal recessive disorders, imprinting disorders, triplet repeat disorders, familial cancer syndromes, heritable thrombophilia, identity testing (hydatidiform mole, hematopoietic stem cell engraftment), acquired genetic abnormalities in oncology (leukemia, lymphoma, sarcomas), and pharmacogenetics. A diversity of analytical approaches are utilized for direct mutation detection including polymerase chain reaction (PCR), RFLP and automated direct DNA sequencing; Southern blotting and methylation-specific Southern blotting; fluorescent DNA fragment sizing by automated capillary electrophoresis, microfluidic electrophoresis and slab gel electrophoresis; fluorescent probe amplification (Invader™ assay), linear array hybridization, reverse transcriptase PCR, real time PCR, methylation PCR, and template-directed, dye-terminator insertion (TDI) high-throughput SNP detection. Other rotations will include clinical suites, specialty medical conferences and clinical case presentations for both pediatric and adult genetics patients throughout the Washington University School of Medicine medical center.

The Application

Clinical molecular genetics is a laboratory-based specialty of medical genetics that focuses on the discovery of and laboratory testing for DNA mutations that underlie disease. Clinical molecular genetics is recognized as a primary specialty by the American Board of Medical Specialties (ABMS). Laboratory postdoctoral fellowship training programs in this specialty are accredited by the ABMG and require a minimum of 24 months of training with a significant amount of clinical interaction as related to human genetic abnormalities. Trainees entering this specialty must hold either an MD or PhD (or their equivalent); the PhD degree must either be in genetics, molecular biology or a related field within the biological sciences. Individuals with an MD or PhD earned outside the United States or Canada must have their degree reviewed by the ABMG Credentials Committee prior to entering a training program. For information on procedures for degree review, please click here. Upon successful completion of the program, clinical molecular geneticists have the skills and knowledge to function as technical supervisors of clinical laboratories as well as clinical consultants regarding laboratory diagnoses of a broad range of inherited disorders, and may in many jurisdictions be deemed qualified to direct specialty clinical molecular laboratories.

Individuals should apply to the program 8-12 months before the anticipated start date. Interviews are granted based upon review of the application package (including CV, personal statement, transcripts and letters of recommendation), and there is no set time frame for interviews. Send application materials to Dr. Payton:

Jacqueline Payton, MD, PhD FCAP
Department of Pathology and Immunology
Division of Laboratory and Genomic Medicine
Washington University School Medicine
660 South Euclid Avenue, Box 8118
St. Louis, MO 63110
Phone: 314-362-5935
Fax: 314-362-4096