Please note: We have no space to commit to other trainees at this time, and we are not accepting applications for Molecular or Cytogenetics fellowships for 2017,
2018, or 2019
Clinical Molecular Genetics –Trainees in the Clinical Molecular Genetics laboratory will become
familiar with all aspects of laboratory operation, including administrative, regulatory, technical, and
results interpretation and reporting. The trainees will gain hands on experience with many traditional
molecular diagnostics assay techniques as well as newer methods, including next‐generation
sequencing, for evaluation of both inherited and acquired disorders. These techniques include real time
PCR assays (Taqman) for DNA genotyping, reverse transcription real time PCR assays for transcript
quantitation, capillary electrophoresis‐based fragment analyses for repeat expansion detection,
microsatellite marker genotyping, and amplified product analyses, Sanger DNA sequencing, nextgeneration
DNA sequencing, and DNA microarray techniques for copy number analysis. Processing and
utilization of specimens of all varieties will be covered, including blood, bone marrow aspirates and core
biopsies, and formalin‐fixed, paraffin‐embedded tissue. The trainees will learn relevant analysis methods
for data interpretation as well as bioinformatics skills necessary for analysis of next‐generation
sequencing data. The trainees will work with the Clinical Molecular Genetics Training Director to
evaluate assay results, correlate laboratory findings with the clinical context and create a final
interpretive report. The trainees will discuss these findings and their clinical correlation with the
referring physician and genetic counselor (if applicable). Broader ethical and professionalism issues will
be introduced during the interaction with the Clinical Molecular Genetics Training Director during interpretation and
case sign‐out.
In addition to learning the technical aspects of assay performance, trainees will learn instrumentation
monitoring, and maintenance and operation, specimen accessioning/documentation/assay process
tracking with the laboratory information system, and reporting in the hospital information system. The
trainees will also participate in the laboratory’s quality assurance program, and various accreditation
inspections to become familiar with regulatory issues in Clinical Molecular Genetics. The trainees will
participate in assay development and validation processes, including the creation of appropriate
standard operating procedures. Finally, the trainee will participate in bi‐monthly laboratory meetings,
weekly molecular tumor board meetings, and other relevant meetings as appropriate.