The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics. The training programs have a wide range of clinical and research activities including orphan disease diagnostics, genotype-phenotype correlation studies, cancer genetics, translation of new gene discoveries for diagnostic purposes, technology development, centromere delineation, chromosome structure and function studies, and phenotype/karyotype studies. In addition, other research interests in the department include complex disease genetics, gene mapping, human gene variation and evolution and neurogenetics. 

Dr. Haverfield completed her molecular genetics fellowship at the University of Chicago in 2008.  Prior to joining GeneDx in 2010, where she is currently the Director of Whole Exome Sequencing and the Immunology/Hematology programs, Dr. Haverfield was an Assistant Director at the University of Chicago Genetic Services.  

[img_assist|nid=381|title=UCGS lab team circa 2009|desc=(L to R): Soma Das, Melissa Dempsey, Lorena Diaz de Leon, Anthony Lozada, Roshni Alva, Eden Haverfield, Amanda Reeder, Peixian Chen, Shalini Reshmi, Lucy Liu|link=none|align=left|width=262|height=197]

When and why did you first decide that you wanted to pursue ABMG accredited clinical molecular genetics training at the University of Chicago?

I became interested in clinical molecular genetics and molecular diagnostics during my PhD at the University of Oxford. The research I performed for my dissertation was very clinically oriented, and was focused on genetic variation that influenced sickle cell disease severity. The clinical molecular genetics training fellowship represented a great way to continue my interests in understanding the genetic basis of human diseases. After completing a fellowship in Clinical Pharmacology and Pharmacogenomics at the University of Chicago, I entered into the clinical molecular genetics training program.

How has the fellowship program as well as your time here as Assistant Director of UCGS prepared you for your current position at GeneDx?

The fellowship program at UCGS exposed me to a large variety of technologies used in today’s molecular diagnostics environment. For example, at UCGS I gained experience with developing and validating quantitative and sequencing-based tests, as well as data analysis, variant interpretation and report writing.  I was also involved in managing the day-to-day lab operations and interpretation of results for routine testing, overseeing new test development and personnel management. Many of these skills assisted in my transition to GeneDx, where I am Director of Whole Exome Sequencing and the Immunology/Hematology programs.

A significant challenge to molecular diagnostic testing, which has been echoed by previous interviewees, is the outpacing of technological advances with the ability to interpret results and provide meaningful clinical care.  What do you foresee is the solution or remedy to this? 

Big data and advances in bioinformatics.

What do you miss most about Chicago?

Chicago is a fantastic city and it was a lovely place to live for over 5 years. I had great friends and mentors at the U of C. Although I don’t miss the winters (or the traffic) all that much, Chicago in the summertime is beautiful, and there are so many things to do. The city has a lot of charm from the lakefront trails and parks to the great architecture, amazing restaurants and vibrant music scene.

Any memorable anecdotes or stories from your time here? 

The people in the lab were always a very friendly group and very engaging. I have fond memories of outings and events we used to have.