||5R01CA237369-02 Interpret this number
||University Of Chicago
||Improving Delivery of Genetic Services to High Risk Childhood Cancer Survivors: a Randomized Study of Remote Genetic Services Versus Usual Care
Germline cancer genetic testing has become a standard evidence-based practice, with risk reduction and
cancer screening guidelines for genetic carriers. Yet, many at-risk patients do not have access to genetic
services, leaving many genetic carriers unidentified. Given increasing precision medicine applications, and a
limited and geographically restricted workforce of genetic providers, innovative delivery models for genetic
services that are responsive to the needs of geographically and sociodemographically diverse patient
populations in their local health care systems are needed. Suboptimal access to genetic services is an acute
problem for childhood cancer survivors, who have high rates of subsequent malignant neoplasms (SMN).
Studies indicate that >10% of survivors carry a pathogenic or likely pathogenic germline mutation in cancer
susceptibility genes (eg. TP53, BRCA ½). In order to identify high-risk survivors for early surveillance and
intervention, NCCN and Children's Oncology Group Guidelines recommend that survivors with a personal
and/or family history of cancer be referred for genetic services. However, <15% of these survivors have access
to genetic counseling services and both survivors and their Primary Care Providers (PCPs) are largely
unaware of their health risks and thus, adherence to high-risk surveillance guidelines is low. Our studies in
adult patients with a personal or family history of cancer suggest that remote telegenetic services (by phone or
videoconferencing) may increase access to genetic services and identification of genetic mutation carriers. Yet,
our current studies have examined these models partnering on-site with community oncology practices, limiting
scalability. This is of particular importance for childhood cancer survivors, who are widely distributed nationally
and >85% are receiving their care with PCPs. Thus, our premise is that our adapted in-home, collaborative
PCP model of remote telegenetic services can provide a scalable model that will result in increased uptake of
evidence-based recommendations for cancer genetic services in survivors. We propose a 3-arm randomized
Hybrid 1 effectiveness and implementation study in the Childhood Cancer Survivor Study (CCSS) to evaluate
the effectiveness of our in-home, collaborative PCP model of remote telegenetic services to increase uptake
of cancer genetic testing in childhood cancer survivors compared to usual care (Aim 1), to evaluate the
effectiveness of videoconferencing to provide greater increase in knowledge, and decrease in distress and
depression as compared to remote phone services (Aim 2a), the moderators of patient outcomes (Aim 2b), and
a cost evaluation of the three study arms (Aim 2c). Also, we will conduct a multi-stakeholder mixed-methods
implementation evaluation to understand patient, provider and system factors associated with uptake of our
remote telegenetic services model, facilitators and barriers to uptake, and recommendations for future
adaptation and sustainability (Aim 3). We expect our findings will provide critical data for the basis for further
dissemination of these services among cancer survivors and other populations in need of genetic services.
Hodgkin Lymphoma Survivors: We Need to Do Better.
, Oeffinger K.C.
Journal of the National Cancer Institute, 2021-06-01; 113(6), p. 654-655.