Implementation Science and Inherited Cancer Syndromes

Mindy Clyne, MHS, CGC
Mindy Clyne, MHS, CGC
February 2021

At time of publication Notice(s) of Funding Opportunities (NOFOs) were referred to as Funding Opportunity Announcements (FOAs).

Prevention and Early Detection of Hereditary Cancers is one of 12 key initiatives included in the Blue Ribbon Panel (BRP) report that launched NCI’s Cancer MoonshotSM. Utilization of implementation science (IS) methods and tools was identified as an integral component in two hereditary cancer funding opportunity announcements (FOAs): Approaches to Identify and Care for Individuals with Inherited Cancer Syndromes and Communication and Decision Making for Individuals with Inherited Cancer Syndromes. These FOAs focused on improving the availability and uptake of genetic screening and testing, risk communication and decision making, and optimization of follow-up management for individuals at risk for inherited cancer syndromes.

The Inherited Cancer Syndrome Collaborative (ICSC) was established to share knowledge, progress and findings, and promote rapid translation of study results across inherited cancer syndrome funded projects, including all projects funded through the FOAs mentioned here. The ICSC is overseen by the Division of Cancer Control and Population Sciences (DCCPS) at NCI. We anticipate the efforts of the ICSC and the findings from individual projects will inform the larger research community interested in advancing the translation of genetic and genomic findings.

Members of the ICSC, including DCCPS program directors and project investigators, met in April 2020 and again in October 2020 to discuss barriers to and facilitators of implementation, common data elements and measures across studies, and opportunities for future collaborations. ICSC members have taken part in the NCI Implementation Science Webinar Series on IS-related Cancer Moonshot Initiatives and the Implementation Science Consortium in Cancer (ISCC). NCI program directors leading IS Cancer Moonshot initiatives and supplements meet regularly to share project progress and knowledge, including ACCSIS, IMPACT, ISC3, C3I, and Dissemination of a Colorectal Cancer Screening Program Across American Indian Communities in the Southern Plains and Southwest United States.

Barriers to successful implementation of genetic screening and testing at the system, provider, and patient levels have been identified within funded projects. These include, but are not limited to, a shortage of genetic counselors, lack of access to services (particularly in rural settings), time restraints, and lack of genetic knowledge by both providers and patients. Innovative strategies to address these barriers are utilized in the ICSC projects. For example, the shortage of genetic services is addressed through revising professional roles (e.g., engaging non-genetic counselor health professionals in identifying at-risk individuals). Lack of access to care is addressed through telehealth services and patient-directed models. A variety of electronic decision aid tools at both the patient and provider levels are used to address the need for genetic literacy, education, and knowledge for optimal decision making.

Sustaining programs post-implementation was a priority of the inherited cancer syndromes FOAs. Consequently, genetic testing and counseling costs were required to be funded pragmatically so that interventions could be sustained. Equitable access to care for medically underserved populations was also prioritized. To address this, projects include tailored communication strategies that address the unique needs of underserved populations, oversampling of underserved populations, and strategies to improve access to genetic counseling, testing, and follow-up.

In summary, collaborations such as the ICSC provide an opportunity for researchers to share the successes and challenges of implementation science efforts. This is especially important for the rapidly advancing field of genetics and genomics. The NCI data sharing policy will allow other investigators to benefit from ICSC data harmonization efforts.

We hope that the dissemination of findings from ICSC projects will encourage other investigators to include implementation strategies in their projects. Current NIH funding opportunities related to genetic counseling include Investigator-initiated Research on Genetic Counseling Processes and Practices (R01 Clinical Trial Optional) and its companion R21 Exploratory/Developmental Research Grant. These FOAs call for applications to optimize the genetic counseling process in the context of limited resources. ICSC NCI Program Directors Nonniekaye ShelburneExit Disclaimer, Erica S. BreslauExit Disclaimer, and Wendy NelsonExit Disclaimer are available to provide scientific and administrative guidance to investigators developing concept ideas related to inherited cancer syndromes.

Mindy Clyne, MHS, CGC
Mindy Clyne, MHS, CGC
Mindy Clyne, M.H.S., C.G.C., is a former research assistant for the Implementation Science Team in the Office of the Director in the Division of Cancer Control and Population Sciences at the National Cancer Institute.


Dispatches from Implementation Science at NCI

Dispatches from the Implementation Science Team, is an episodic collection of short form updates, authored by members and friends of the IS team representing a sample of the work being done and topics that our staff are considering for future projects. Topics address some of the advances in implementation science, ongoing issues that affect the conduct of research studies, reflections on fellowships and meetings, as well as new directions for activity from our research and practice communities.

Last Updated
June 22, 2023