Clinical Molecular Genetics

Fellows will complete 24 months of full-time (at least 40 hrs per week) clinical lab training. Fellows will spend most of their training in a single primary clinical lab with 4 months of training split between the primary laboratory and two additional laboratories (50% time for 2 months in each lab). Unless an outside funding arrangement has been approved, the clinical laboratory training will be funded by the primary clinical laboratory. Primary laboratory assignments will be based upon funding availability from the clinical labs.

During their laboratory training, fellows are expected to complete the following basic requirements.

  1. Fellows will complete 150 logbook cases in compliance with the ABMG requirements. See http://www.abmg.org/pages/cert_main.shtml for details
  2. Fellows will become competent in the basic molecular techniques (as demonstrated through hands-on experience in the laboratory) and become familiar with an additional techniques used in clinical molecular genetics. Basic techniques include electrophoresis, PCR, Southern analysis, DNA sequencing, and available genotyping assays. Additional assays to which fellows should have exposure include but are not limited to: mutation screening techniques (SSCP, dHPLC, DGGE), additional genotyping techniques (e.g. ASO, RFLP, primer extension, TaqMan), methylation studies, microsatellite studies (e.g. instability, triplet repeat expansion, MCC, identity), and quantitative approaches (e.g. aCGH, quantitative PCR, MLPA).
  3. Fellows will learn the major clinical indications for molecular testing and the clinical implications of test results. This learning is primarily facilitated through hands-on experience with cases including review of test requisitions and drafting of case reports.
  4. Fellows will learn to calculate genetic risks and integrate molecular and clinical data. For example, the reporting of recurrence risks after positive results or residual risks after negative results.
  5. Fellows will develop skills in communicating with referring physicians, and when appropriate, communication with patients. This includes the 10 cases required for the ABMG logbook, but also includes general exposure to the clinic.
  6. Fellows will become familiar with clinical disorders amenable to molecular testing. This experience will be facilitated by involvement in the decision-making surrounding new test development as well as discussions in the didactic and discussion portions of the program.
  7. Fellows will become familiar with the processes required for quality control, quality assurance, and quality improvement necessary for the management of a diagnostic laboratory. This learning will include fellow's participation in proficiency testing as well as involvement in the quality control procedures in the lab. It will also include discussions and often direct involvement in the QA/QI policies in the lab (incident reports, QI projects, etc).
  8. Fellows will become sensitive to ethical issues in genetics, particularly those raised by molecular diagnostic testing. Lab supervisors and directors will involve fellows in all discussions and cases that arise in which ethical issues are a factor. These topics are also covered in the didactic and discussion portions of the program.
  9. Fellows will complete a project involving either the development of a new diagnostic test or the modification of a current methodology.
  10. Fellows will present cases in genetic rounds and case discussion sessions.