Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Patient education for basic genetics as well as genetic testing options is a key role of a genetic counselor (GC). As whole exome sequencing (WES) becomes more commonly used in clinical care, an increased burden of genetic education is placed on both the GC and the patient due to the complexity of this test. One method to help alleviate this burden is the use of educational tools, these tools need to be assessed for their efficacy. There is a lack of research eliciting GCs’ opinion of educational tools intended for WES. The parents of minor patients evaluated at Columbia University Medical Center who were having WES as part of clinical care were randomized to be invited to watch educational videos before their visit or to receive routine care. Treating GCs were blinded to the randomization. GCs’ impressions of the session, including the effectiveness of the session, parent genetic knowledge, and time allocation were assessed by a survey following the session. A trend of GC-reported greater parent genetic knowledge and less time spent on education for those who were invited to watch the videos was observed, although it was not statistically significant. GCs reported that they spent less time on psychosocial discussion with parents in this group as opposed to those who had routine care (p=0.02). The results of this study suggest that WES educational tools may augment traditional, in person, genomic education. Somewhat surprisingly, they also apparently resulted in less time spent on psychosocial counseling. Although these results suggest that WES educational tools may be useful for GCs, they need to be further studied to better understand how GCs perceive the efficacy of these tools, the impact of them on psychosocial care, and how best to incorporate them into clinical practice.

Included in

Genetics Commons