Date of Award
5-2023
Document Type
Thesis - Open Access
Degree Name
MS in Human Genetics
First Advisor
Claire Davis
Abstract
Cascade testing is the process by which family members of an individual with a familial pathogenic variant are sequentially offered genetic counseling and testing. This process is important for tailoring preventative services and improving health outcomes. Despite these benefits, there has been historically low uptake of genetic counseling and testing by at-risk relatives. We sought to determine whether offering a targeted on-demand genetic counseling service could reduce barriers and improve experience for patients, potentially leading to improved uptake of cascade testing. The on-demand model offers same-day call-back and targeted session by a genetic counselor after patients contact the clinic. We offered this model as an option for one month through Geisinger’s MyCode® Genomic Screening and Counseling Program. The clinic was contacted by 16 at-risk relatives during this time, 12 of whom were eligible for the study. Of those eligible, six (50%) elected to have on-demand genetic counseling; two patients returned surveys and indicated a positive response to the model. There were insufficient enrollees and responses for statistical analysis. Participating genetic counselors also indicated an overall positive view of the model. These are promising results that could be further explored in future research to determine efficacy of the model.
Cascade testing is the process by which family members cascade of having of an individual with a familial pathogenic variant are sequentially offered genetic counseling and testing. This process is important for offeringtailoring preventative services and improving health outcomes. Despite these benefits, there has been historically low uptake of genetic counseling and testing by at-risk relatives. We sought to determine whether offering a targeted on-demand genetic counseling model servicecould help reduce barriers and improve experience for cascade patients, potentially leading to improved uptake of cascade testing. The on-demand model offers same-day call-back and targeted session by a genetic counselor after patients contact the clinic. , and brief targeted genetic counseling session. We offered this model as an option for one1 month through Geisinger’s MyCode® Genomic Screening and Counseling Program. The clinic was contacted by 16 at-risk relatives during this time, 12 of whom were eligible for the study. Of those eligible, six (50%) elected to have on-demand genetic counseling; . two patients returned surveys and indicated a positive response to the model. There were insufficient enrollees and responses for statistical analysis. Participating genetic counselors also indicated an overall positive view of the model. These are promising results that could be further explored built upon in future research to determine efficacy of the model.
Recommended Citation
Hain, Elizabeth and Ploeger, Jonathan, "Evaluation of Targeted On-Demand Genetic Counseling Model for Familial Variant Cascade Testing" (2023). Human Genetics Theses. 119.
https://digitalcommons.slc.edu/genetics_etd/119