Author ORCID Identifier


Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Kathleen Shields, MS, CGC

Committee Member

Myla Ashfaq, MS, CGC

Committee Member

Meagan Choates, MS, CGC

Committee Member

Megan Morand, MS, CGC

Committee Member

Syed S. Hashmi, MD, MPH, PhD

Committee Member

David F. Rodriguez-Buritica, MD


Before the availability of comprehensive genetic testing, dysmorphology was critical for developing a differential for individuals suspected of having a genetic disorder. Literature suggests that the availability of whole exome and whole genome sequencing (ES/GS) has shifted the use of dysmorphology from a forward to backward approach. There is no literature describing the continued use of dysmorphology within the genetic counseling field or the training that genetic counseling students receive. The study aims to describe the dysmorphology training that genetic counselors (GC) and GC students reported receiving, to explore the involvement of GCs in evaluating dysmorphic features and identify factors that influence involvement. GCs and second-year GC students were invited to participate in the study through the National Society of Genetic Counselors (NSGC) listserv or emailed by GC program directors. Participants completed a survey that assessed their dysmorphology training, GC experience, and perception of dysmorphology. Data was collected from September 20, 2023, through December 31, 2023. Quantitative data analysis was performed on surveys that were at least 75% complete. Finally, a thematic analysis was performed for free-response questions.

A total of 210 responses were included in the analysis, including 77 students and 133 GCs. Most participants received dysmorphology education (96%), while only 30% reported being involved in dysmorphology evaluations during clinical rotations. The amount of dysmorphology education and involvement during graduate school was significantly higher among GCs who graduated before 2004 (p = 0.005 and p = 0.01, respectively). Twenty-nine percent (n = 34) of practicing GCs reported currently using their dysmorphology skills. Involvement in dysmorphology evaluations during graduate school was the most significant predictor of current involvement.

The study demonstrates that dysmorphology remains an essential component during various stages of the genetic counseling process. However, there has been a decrease in the emphasis on dysmorphology training over time. In turn, this decrease is predicted to negatively impact a GC’s sense of preparedness and utilization of dysmorphology skills once in practice. This study supports the need for standardization of dysmorphology training, including more didactic education and hands-on experiences for GC students during their training.


Whole genome sequencing, whole exome sequencing, dysmorphology training, clinical applications, forward approach, backward approach

Available for download on Thursday, April 24, 2025