Whole Exome Sequencing: Laboratory Genetic Counselor's Concerns and the Informed Consent Process

Background/Purpose: The volume of data generated by whole exome sequencing (WES) necessitates the evaluation of the testing process. This paper seeks to establish what specific concerns laboratories have regarding WES and to provide information about the current informed consent (IC) processes of each laboratory in order to begin to work towards standardized guidelines and consent form for WES.;Methods: Genetic counselors from each laboratory that offers clinical WES were interviewed to learn what laboratories took into consideration when developing the IC forms. The IC forms from each laboratory were evaluated based on themes identified.;Results/Discussion: This study shows that there is no consensus regarding results disclosure indicating a lack of industry standards. All the participants emphasized the importance of collecting phenotype information indicating WES is primarily performed for diagnostic purposes. Finally, while the level of interaction between the laboratories and the clinicians varied, all the participants indicated that they rely on the clinician to contact them with questions and concerns.;Conclusion: WES is a complex and involved test that presents unique challenges that need to be addressed by the IC process. To enable a smoother transition from WES for symptomatic patients to whole genome sequencing and testing of healthy individuals guidelines need to be developed.