Logistics and Uptake of Genetic Testing for Patients Referred for Telegenetic Counselling for Cancer

DOI: https://doi.org/10.29086/JISfTeH.6.e13

Keywords: telegenetic counseling, genetic testing, telemedicine, hereditary cancer, genetic counseling


Purpose:  There is a dearth of information about the uptake of genetic testing after telegenetic (videoconference) counselling for hereditary cancer, which has been previously reported as a limitation of this service delivery model.  Methods:  We performed a review of the triage list for patients referred to The Ohio State University (OSU) from two community cancer centres for telegenetic counselling appointments from April 1, 2014 to May 31, 2016.  Results:  A total of 179 patients were referred for telegenetic counselling, and of   these 62.6% (112/179) completed a 30-60 minute telegenetic counselling appointment.   Of those counselled, 82.1% (92/112) completed genetic testing,    12.0% (11/92) of whom were found to have a pathogenic mutation.  Of those with mutations, 45.5% (5/11) returned for a follow-up telegenetic counselling session to review results in more detail.  In addition, 18.5% (17/92) of patients tested had at least one variant of uncertain significance (VUS). Conclusions:  The presence of a nurse/nurse practitioner with the patient at the remote site during the telegenetic counselling session may have facilitated higher completion rates for genetic testing compared to previous reports in the literature, and appropriateness of genetic testing in this method of providing genetic counselling is reflected in the rates of results identifying deleterious mutations and variants of uncertain significance.

Author Biography

Kate Parks Shane-Carson, The Ohio State University
Licensed Genetic Counselor Assistant Professor, Clinical Internal Medicine


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How to Cite
Shane-Carson, K., & Martin, C. (2018). Logistics and Uptake of Genetic Testing for Patients Referred for Telegenetic Counselling for Cancer. Journal of the International Society for Telemedicine and EHealth, 6(1), e13 (1-7). https://doi.org/10.29086/JISfTeH.6.e13
Original Research