The Harvard Medical School Genetics Training Program is accredited by the American Board of Medical Genetics to provide training in Clinical Molecular Genetics. Participating laboratories are at Children's Hospital, Massachusetts General Hospital, Brigham and Women's Hospital and Genzyme Genetics.

The overall goals of the molecular genetics program are:

• understand the principles of molecular genetics as applied to diagnostic testing, including direct mutation analysis and linkage analysis
• become familiar with major techniques used in clinical molecular genetics, including PCR, Southern analysis, DNA sequencing, electrophoresis, and other technologies
• learn the major clinical indications for molecular testing and the clinical implications of test results
• learn to calculate genetic risks and integrate molecular and clinical data
• develop skills in communicating with referring physicians
• become familiar with clinical disorders amenable to molecular testing
• appreciate the issues in quality assurance necessary to management of a diagnostic laboratory
• become sensitive to ethical issues in genetics, particularly those raised by molecular diagnostic testing
• participate in an ongoing research activity in molecular genetics

The following is a sample schedule of the molecular genetics program. Click on the laboratories to view the laboratory's website.

Description of Training Sites

Brigham and Women's Hospital Diagnostic Molecular Biology Laboratory

Fellows are responsible for presentation of cases at the weekly laboratory meeting. Presentations include review of clinical history and/or pathologic diagnosis as well as testing results and any technical issues associated with the test. Fellows are required to draft reports for cases and to communicate results directly to referring physicians. This communication is discussed with the attending DMB pathologist prior to its delivery and is performed under direct supervision. Fellows also expected to become familiar with all the laboratory protocols and to update the literature on one disease. The fellow must present this update during one lab meeting.

During the rotations in the three Harvard Medical School laboratories, the fellows are expected to make monthly presentations at the Genetics Walk Rounds held at 10:00 am on Wednesday mornings at Children’s Hospital. These presentations are based on current clinical cases in which the fellow is involved.

Fellows are also required to attend Partners Cancer Genetics Clinic at Dana Farber Cancer Institute on Fridays. Even though there is no direct relationship between the two, fellows will see some patients with same disorders that are tested in the lab. Due to the close proximity of the BWH to DFCI, it is easy for fellows to attend the Cancer Genetics clinic while doing a rotation at the DMB Lab.

Children's Hospital DNA Diagnostic Laboratory

Through out the rotation, fellows review test results, draft reports for sign-out and perform bench work for clinical tests. Fellows are also required to attend the Genetics Clinic at Children’s Hospital with Dr. Gerry Cox on Mondays.

Fellows in the Molecular Training Program are expected to complete a project involving either the development of a new diagnostic test or the modification of current methodology during this rotation.

Genzyme Genetics Molecular Diagnostic Laboratory

Fellows train in a high volume, high throughput, clinical molecular diagnostics laboratory, where they have the opportunity to experience the scope of information management, specimen tracking, automation, assay workflow and quality control associated with the demands of this unique environment. Our laboratory uses a variety of diagnostic testing methods, ranging from classical Southern blotting to fluorescence-based allele-discrimination platforms. Six board-certified clinical molecular geneticists and seven board-certified genetic counselors are on site.

During this rotation, fellows will spend time in our Accessioning, Extraction, Assay, Reporting, Quality Control, and Development laboratories and will review assay results with Lab Directors and Genetic Counselors. The number of patient specimens we analyze provides an increased opportunity to be involved in abnormal and unusual cases that might not be encountered in a small laboratory setting.

While in the lab, rotating fellows will be expected to present a seminar as part of our continuing education program and to work on an individual research or development project.

MGH Neurogenetics DNA Diagnostic Laboratory

Through out the rotation, fellows review new cases, laboratory test results and reports. Fellows are afforded the opportunity to discuss the laboratory services, protocols and results with referring physicians. At the weekly laboratory meeting, fellows have primary responsibility for presentation of current cases. Fellows also are requested to update one disease literature notebook with recently published articles and to present these findings to the laboratory. Finally, fellows work at the bench, processing clinical samples and setting up new diagnostic tests.