Prenatal Exome Sequencing – Are We Ready?

In recent years, exome sequencing has become an important diagnostic tool in genetics. Analyzing the protein-coding region of the genome, this test examines the majority of disease-causing genes to identify disorders that would otherwise be missed in individuals with multiple features not characteristic of one particular syndrome or condition. However, with the scope of such a complex test comes the possibility of genetic variants of uncertain clinical significance (VUS) and incidental findings unrelated to a patient’s clinical presentation. This complicates genetic counseling by adding more time, paperwork, and complexity to the consent and disclosure processes.

While not currently available in the prenatal setting, it is likely that exome sequencing will soon be available to prenatal genetic counselors. My thesis research focuses on how prenatal and laboratory counselors feel about the possible implementation of prenatal exome sequencing, and what factors influence those opinions. My goal is to assess in what situations they feel prenatal exome sequencing would be appropriate and to see if any discrepancies exist between the prenatal counselors, who are seeing patients in a clinical setting, and laboratory counselors, who are researching variants and writing reports that eventually go back to the clinic.

I developed my thesis project with assistance from my coworkers at the genetic testing laboratory where I worked prior to graduate school and my mentors at the University of Pittsburgh. Through developing my survey, I’ve learned important skills. Reviewing literature has helped to guide the survey creation process, and I’ve learned about specific ways in

which survey questions are coded to help ease the process of statistical analysis, such as creating questions that follow a “Likert scale”, e.g. Please rate how much you agree or disagree with the following (1=strongly disagree,  5=strongly agree).

In addition, my thesis has forced me to think about my own opinions regarding this testing, and to confront these opinions to help structure the questions in the best possible manner. I hope that the results of this survey will help to identify problem areas that should be addressed before prenatal exome sequencing is offered by labs, as well as to show any similarities or differences that develop from working in clinic versus working in the lab in regards to opinions of new testing implementation.

-Tricia Zion, class of 2016

A PhD in Human Genetics with a Focus in Genetic Counseling

The University of Pittsburgh Genetic Counseling Program is unique and sets itself apart from other programs in many ways, particularly through the opportunity to apply for the PhD program in Human Genetics with a focus in genetic counseling. The PhD provides a research supplement to a genetic counseling degree and broadens career opportunities.

Prior to entering the University of Pittsburgh Genetic Counseling Program Class of 2015, I enjoyed years of undergraduate research experience in basic science. Excited to learn about clinical research, I began my graduate work in the Division of Gastroenterology, Hepatology, and Nutrition with my mentor, Dr. David Whitcomb. My thesis work and clinical training encouraged and challenged me to consider the future of genetics in medicine and the genetic counseling profession in this ever-evolving field. My thesis focused on describing hereditary pancreatitis in the United States, but I was given the opportunity to also contemplate the role of genetic counselors in the management of complex disorders – diseases caused by multiple gene-gene and gene-environment interactions. While hereditary pancreatitis is inherited in a traditional Mendelian autosomal dominant fashion, the severity and complications of the disease vary widely and are influenced by numerous genetic and environmental factors. My experience fed my interest in complex disorders and personalized medicine, as well as my passion for research.

Although I am in the early stages of my PhD education, I am already enjoying the challenges and opportunity to learn more in-depth information of topics covered in the Genetic Counseling Program, whilst broadening my understanding of and contribution to the literature. These are proficiencies that will expand my career scope and better prepare me to make valuable contributions as the field forges onward. I am further inspired by the department’s mission and vision to prepare its graduates for the future of genetics in medicine, as well as take an active role in the development of these advances. Though the future is ever-changing, I am confident that whatever direction my career takes me–be it academic, research, clinical, or industry–I will be well prepared from my training here at the University of Pittsburgh.

Following my graduation from the Genetic Counseling program this past spring, I had the unique opportunity to take a job with Dr. Whitcomb to continue my research on hereditary pancreatitis and join a small team operationalizing a new innovative study focused on personalized medicine for complex disorders. Encouraged to pursue my interests in research through additional graduate training, I seized the opportunity to apply for the Human Genetics PhD program with a focus in genetic counseling. As a graduate of a genetic counseling program, I have already completed the majority of the required coursework and was drawn by the ability to focus on my research and take classes of particular interest to my work. 

-Celeste Shelton, class of 2015