Basic science advances in genomics have provided great promise for improving human health and reducing the burden of cancer in the United States, fueling the rapidly growing field of personalized medicine. Yet, translating gene discoveries into responsible and effective applications that benefit the health of individuals and populations presents many challenges. Genetic screening for cancer susceptibility is one application of """"""""personalized medicine"""""""", which has become standard of care in clinical medicine. Given the increasing demand for genetic testing and the desire to disseminate services broadly to optimize population health benefits, the current delivery model for genetic testing in oncology presents barriers to widespread dissemination of genetic testing. Telemedicine (e.g. videoconferencing) has been successfully used to expand a variety of specialized medical services to low access populations. Yet, there are significant gaps in our understanding of the impact of telemedicine at both individual and population levels. Further research is needed to develop and evaluate telemedicine communication, delivery, and dissemination strategies to optimize outcomes of telemedicine genetic services, in and beyond cancer genetics. The diffusion of cancer genetic services provides an ideal context to evaluate the dissemination of telemedicine delivery of cancer genetic services, and to assess and understand the real world outcomes of personalized medicine in diverse populations. We propose to develop a protocol for telemedicine (i.e. videoconferencing) delivery of cancer genetic services, and evaluate the feasibility of implementing it in community clinical practices with limited or no access to on-site genetic services, expanding the availability of personalized cancer risk assessment to populations where access to services has been limited or is associated with significant barriers to utilization.
In Aim 1, we will collaborate with community practices to develop and pilot a protocol for telemedicine cancer genetic services for community practices with limited or no access to genetic services. In the pilot, we will use providers (genetic providers &community site staff) and patient surveys to refine the telemedicine protocol and procedures.
In Aim 2, we will conduct semi-structured interviews with key practice stakeholders from 10-12 additional community practices to identify variables critical to the sustainable adoption and implementation of our telemedicine protocol in diverse clinical community practices with limited or no access to genetic services. We expect this research to inform future efficacy and effectiveness research focused on broader implementation of, and sustainability telemedicine cancer genetic services in community practices. Additionally, we expect this research to inform the dissemination of other emerging and new applications of personalized medicine, fostering the translation of research to clinical practice, and promoting the health of individuals, families and populations.

Public Health Relevance

As the diversity and volume of genomic testing increases, translational research that evaluates the dissemination and real-world outcomes of existing and new genomic applications is needed to guide the rational and effective clinical integration of genomic advances that will ultimately reduce the burden of cancer and other prevalent diseases, to improve human health. Telemedicine delivery of genetic services in community practices is an innovative delivery model that has the potential to expand availability of personalized cancer risk assessment to populations where access to services has been limited or is associated with significant geographic or financial barriers to utilization. Thus, this reseach has the potential to foster the translation of basic science research to clinical practice, promotig the health of individuals, families, and thus populations.

National Institute of Health (NIH)
National Cancer Institute (NCI)
Exploratory/Developmental Grants (R21)
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Dissemination and Implementation Research in Health Study Section (DIRH)
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Hesse, Bradford
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University of Pennsylvania
Internal Medicine/Medicine
Schools of Medicine
United States
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