Introduction
The Clinical Genetics Laboratory Training is a two year program of clinical laboratory service and research focused on cytogenetics, biochemical and/or molecular genetics. The program is designed for individuals who wish to become Directors of Clinical Genetics Laboratories. The first year consists of didactic course work, such as Molecular Mechanisms and Advanced Human Genetics and exposure to the clinical lab setting. During the second year, trainees pursue a research project involving materials and procedures derived from their Clinical Laboratory Training. Both years have applied laboratory experience. Trainees (both M.D.s and Ph.D.s) interact with the medical staff of the hospital to gain experience in cooperating and consulting with a variety of medical staff. This includes, but is not be limited to, participation in the Clinical Genetics Case Conference, Current Topics in Clinical Genetics, presenting at the IGM Journal Club and Postdoctoral Conferences, and attending the Prenatal Conference as well as the DNA Seminar Series. Trainees are also involved in all activities that relate to the interactions of the genetics laboratories (such as laboratory meetings and seminars) and the medical staff of the affiliated hospitals. Trainees who desire to become board eligible in a second laboratory specialty spend a minimum of one additional year in each of the laboratories of interest. These trainees document their involvement in the laboratory diagnosis and/or follow up of at least 150 cases for each of their laboratory specialties over this training period. This involvement is recorded in their logbook as outlined in the training program requirements of the American Board of Medical Genetics.
The goal of this fellowship is to train individuals who have the potential to become leaders in the field of Medical Genetics. The program is designed to provide the fellow with experience in all facets of modern medical genetics extending from the lab bench to the patient setting. The training experience emphasizes the role of research in Medical Genetics and prepares trainees for a career in academic medicine. Upon completion of the program the fellow will be eligible for certification in clinical, biochemical, cytogenetic or molecular genetics.
Dr. Garry Cutting is the Director of the Postdoctoral Clinical Genetics Laboratory Training Programs and DNA Diagnostic Laboratory. He is responsible for the overall program and directly supervises the trainees in molecular genetics. Dr. Lisa Kratz, Director of the Biochemical Laboratory supervises trainees in biochemical genetics. Dr. Denise Batista, the Director of the Kennedy-Krieger Cytogenetics Laboratory, together with Dr. Gail Stetten, Director of the Prenatal Cytogenetics Laboratory, along with Connie Griffin, MD supervise the training program in cytogenetics. Adel D. Gilbert, is the Co-Director of the Postdoctoral Clinical Genetics Training Program and is the primary contact for potential trainees. All of our laboratory supervisors are board certified by the American Board of Medical Genetics.
The Clinical Cytogenetics Training Program is currently co-directed by both Drs. Stetten and Batista. Fellows also rotate with Constance Griffin, MD, the associate director of the Pathology Molecular Diagnostics Laboratory and Director of the Cytogenetics Laboratory. This laboratory provides experience in state-of-the-art clinical cytogenetic and molecular testing for leukemia, lymphoma, solid tumors, cancer predisposition and a number of hematologic mutations associated with disease.
Cytogenetic Training Objectives:
1. gain practical experience in techniques used in routine chromosome analysis
2. attain proficiency in methods for handling blood, bone marrow, skin, amniotic fluid, chorionic villi and a variety of tissues from spontaneous/induced abortions
3. aquire knowledge of standard and computer assisted methods of karyotyping.
4. perform fluorescence in situ hybridization using a variety of probes
5. achieve proficiency in cytogenetic techniques and test interpretation
6. develop skills necessary to direct a clinical laboratory (writing reports, requesting additional specimens, handling laboratory proficiency testing, etc.)
The American Board of Medical Genetics first certified the Clinical Biochemical Genetics Training Program in 1984. George Thomas, PhD directed this program until the summer of 2005. Currently he acts as a consultant to the new Director, Lisa Kratz, PhD.
Biochemical Genetics Training Objectives:
1. Proficient in the following methods:
a) biochemical screening through sample preparation, analysis, report generation and interpretation of amino acid analysis on blood, urine and CSF, and communication of results to referring physicians
b) organic acid analysis of urine through sample preparation, assay, organic acid chromatogram analysis, mass spectrometry analysis and interpretation of results, and report generation
c) carnitine analysis, lysosomal enzyme analysis and tissue culture through sample requirements and preparation, assay, report generation, calculation of values and interpretation of results
d) stable isotope dilution analysis (SID) and sterol analysis through sample requirements and preparation, assay, mass spectrometry, interpretation of results and report generation
e) peroxisomal laboratory through sample requirements and preparation of VLCFA and RBC plasmalogens analysis, mass spectrometry and chromatogram, interpretation of results, report generation as well as understand the assays utilized for prenatal diagnosis of peroxisomal disorders.
2. Gain experience in the laboratory diagnosis of inborn errors of amino acid metabolism using anion exchange chromatography, inborn errors of organic acid metabolism using combined GC/Mass spec analysis and inherited storage disorders utilizing enzyme analysis of lysosomal storage diseases.
3. Demonstrate the ability to direct all phases of a complex testing environment including test reporting, quality assurance, quality control programs, inter and intra proficiency testing, regulatory agencies and reviews.
The American Board of Medical Genetics first certified the Clinical Molecular GeneticsTraining Program in 1984. Since 1995, Dr. Cutting assumed Directorship of the DNA Diagnostic Laboratory and the Clinical Molecular Genetics Training Program. This lab currently provides carrier, prenatal, presymptomatic, and/or confirmatory testing for approximately 25 different single gene disorders.
Molecular Genetics Training Objectives:
1. gain experience in techniques of the DNA diagnostic lab (including Southern blotting, PCR, allele specific probe hybridization, restriction digestion, use of GenotyperTM software for sizing of PCR products)
2. gain experience in the interpretation and reporting of results (linkage analysis, risk modification by Bayes analysis, and application of clinical information to the interpretation of lab results)
3. become knowledgeable in those aspects of the laboratory important for licensing such as quality assurance, quality control, proficiency testing, continuing education, and training of technicians
4. be able to present cases to the medical and scientific community
5. demonstrate the ability to develop and validate a new test
6.become ABMG Board Eligible
Back to top of page
