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