Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


As the rate at which whole exome and genome sequencing is used in the clinical and research settings increases, the need for a system to share information obtained from these tests increases as well. GeneMatcher is a website platform that ‘matches’ individuals who are interested in sharing information about the same candidate gene. Using data collected by GeneDx, a clinical diagnostic laboratory, we assessed the outcomes of the matches made between external participants who reached out to GeneDx to discuss findings. Our assessment was made by sorting the outcomes of the discussions about ‘matches’ into three categories: ‘collaboration’, ‘one-off’, and ‘not pursuing’. The categorizes define the level of information sharing between the requestor and GeneDx and to what extent the discussions moved forward. This methodology was used for both an eight-month retrospective study, along with a fourweek prospective study. We found that over half of the matches in both studies resulted in discussions occurring between requestors and the GeneDx ordering clinicians who agreed to communicate about their patients. Approximately one fourth of the matches were categorized as collaborations, meaning a level of data sharing occurred which increased the chances of the candidate gene being classified as a disease causing gene. The results of this study support the benefits of data sharing in regard to furthering discussions and knowledge about the clinical effects of variants in candidate gene.

Included in

Genetics Commons