Clinical Laboratory Fellowship Training in Laboratory Genetics and Genomics

(formerly Molecular Genetics/Cytogenetics)

The University of Chicago is accredited by the American Board of Medical Genetics and Genomics (ABMGG) to provide training in Laboratory Genetics and Genomics (LGG). LGG is a new specialty of the ABMGG that integrates training in both molecular and cytogenetics in a single program of a minimum duration of 24-months. Please visit the ABMGG site for more details and updates. The training program benefits from a wide range of clinical and basic research activities across departments at the University and Medical Center.  Areas of interest within the program include genetics of neurodevelopmental disorders, endocrine disorders, complex disease, inherited cancer syndromes, chromosomal basis of cancer and human genome variation.  Opportunities for practical application of research within the training program include orphan disease diagnostics, translation of new gene discoveries for diagnostic purposes, technology development, chromosome structure and function studies, and genotype/phenotype/karyotype studies.


Description of Training Activities

The Molecular Genetics Laboratory and the Cytogenetic Laboratory at the University of Chicago provide testing for a wide range of genetic disorders. During the entire duration of training, fellows will participate in the daily diagnostic activities of the laboratories including (but not limited to) learning laboratory techniques, genetic test analyses, and result interpretation.  Trainees will learn clinical laboratory management skills including lab regulatory issues and quality control procedures. The opportunity to develop and validate new clinical tests and participation in research projects is available. In addition, throughout the program, trainees will participate in a number of didactic activities including:

  • A Graduate-Level Course in Human Genetics (HGEN 47000). This course covers classical and modern approaches to studying cytogenetic, Mendelian, and complex human diseases. Topics include chromosome biology, human gene discovery for single gene and complex diseases, non-Mendelian inheritance, mouse models of human disease, and human population genetics. The format includes lectures and student presentations.
  • A Medical Genetics Core Lecture Series. This comprises a series of 25-30 didactic lectures pertinent to clinical laboratories.  The lectures are intended to include all the major areas of molecular genetics, cytogenetics, cancer cytogenetics, mitochondrial genetics, pharmacogenetics, counseling issues, risk assessment, test billing, CAP/CLIA regulations, as well as different aspects of clinical genetics and genetic syndromes.
  • Weekly Clinical Case Conferences. These are interdisciplinary conferences involving the Cytogenetics, Molecular Genetics, Cancer Genetics and Molecular Pathology Laboratory faculty, fellows and staff involved in the diagnosis and management of patients with genetic disorders. During Case Conferences, interesting clinical cases are usually presented offering an opportunity to correlate molecular genetic results with clinical histories to enhance the educational experience.
  • Monthly Journal Clubs. These are aimed to study and conduct critical analyses of the current literature. In this forum, trainees gain experience in organizing and formally presenting scientific information to a broad clinical audience and lead interactive discussions.
  • Weekly Exome Sign-Out Meetings. During these meetings, exome sequencing cases are presented, and results are interpreted for clinical significance among clinical laboratory scientists, clinical geneticists and genetic counselors. These meetings offer trainees the opportunity to learn how new advances in next generation sequencing, data analysis, variant interpretation and gene annotation are implemented in clinical testing.
  • Weekly Hereditary Cancer Risk Case Conferences. These are multidisciplinary case review conferences during which faculty from the Department of Medicine present cases from their clinics and discuss cancer risk assessment, surveillance, risk management and research eligibility for cases covering the full spectrum of hereditary cancers. Fellows are encouraged to attend these conferences for a minimum of two months during their training program.
  • Fellow Conferences. These are informal meetings during which our clinical molecular genetics and cytogenetics fellows review interesting/unusual cases, discuss issues related to laboratory testing, and review a specific topic or disease and/or board review questions. This exercise provides a unique opportunity for fellows to explore a broad range of laboratory issues in a ‘round table discussion’ with laboratory directors and peers. The purpose of these activities is to help fellows prepare for their board certification exam and to become highly skilled laboratory directors.
  • Weekly Clinical Pathology Conferences discuss a wide range of topics relevant to laboratory medicine. Fellows are encouraged to attend and/or present topics and case reviews to residents, fellows and attendings in the department of Pathology.
  • Monthly Hematopathology Conferences engage faculty, residents and fellows from Departments of Pathology, Medicine and Genetics in reviewing interesting and instructive cases of hematologic malignancies. The discussion focuses on correlation of clinical, morphologic, immunophenotypic, cytogenetic and molecular findings, in order to establish accurate diagnosis and develop an optimal treatment plan. These meetings offer trainees the opportunity to understand the increasing role of testing for acquired genetic abnormalities in cancer cells in oncology.
  • Quarterly QA/QC meetings. Trainees are actively involved in processes required for quality control and quality assurance necessary for the management of our diagnostic laboratories. Learning is achieved through participation in proficiency testing, quality control procedures, quality improvement activities and assisting the laboratory personnel in preparing for inspections conducted by the College of American Pathologists (CAP).
  • In addition, the Biological Science Division at the University of Chicago hosts daily research and clinical seminars often with outside speakers. Work in progress seminars and departmental journal clubs are also additional learning opportunities available to our trainees.
  • Fellows are encouraged to submit and present their research projects at regional or national conferences such as the American Society of Human Genetics, the American College of Medical Genetics and Genomics scientific meeting, the American Cytogenetics conference, the Association of Molecular Pathologist meeting, etc.



  • In order to be considered for a training position in the Laboratory Genetics and Genomics Fellowship programs, candidates must hold a valid M.D. or Ph.D. degree and have experience in genetics, human genetics, or a related field. Additional eligibility requirements can be found on the ABMGG website.
  • All individuals with a doctoral degree earned outside of the US, Canada or Puerto Rico who are planning to sit for the certification examination must have the ABMGG Credentials Committee review their credentials prior to the onset of medical genetics training in an ABMGG-accredited fellowship or ACGME-accredited clinical genetics residency program for determination of equivalency of the doctoral degree. Additional information can be found here.
  • Candidates who are not U.S. citizens or permanent residents and those graduating from foreign medical or graduate schools should note the following additional information:
  • Applicants with an earned PhD or MD degree from a country in which English is not the primary language must have taken and passed the TOEFL-iBT examination within two years of applying to the program. Applicants must have the official TOEFL-iBT examination scores sent directly to the ABMGG Administrative Office by the Educational Testing Service ( We require candidates to submit their TOEFL-iBT exam results before their application for admission to our program.


Application and Materials Required

The Laboratory Genetics and Genomics Fellowship training program is highly competitive with only a few positions available per year.

  • May 1st – August 31st: Accepting Applications
  • October- December: Interviews are conducted
  • July 1st: Training start date

Materials required for application are:

  • Updated CV
  • Three letters of reference
  • A personal statement (up to 1 page) specifying motivation for training and career goals.
  • Submit all application material by email to:

To be considered for the training program, you must submit ALL materials by the posted deadline. Please do not mail original documents to the reviewing department.


Financial Support

Fellows will receive standard stipend and benefits from the Departments of Human Genetics and Pathology at the University of Chicago.


Program Contacts

Applications and questions regarding the Laboratory Genetics and Genomics Training Program should be addressed to:

  • Dr. Daniela del Gaudio
  • Dr. Carrie Fitzpatrick