Piloting an Implementation Strategy for Mainstream Genetic Testing in Colorectal Cancer - PROJECT SUMMARY
Of the 150,000 individuals diagnosed with colorectal cancer (CRC) each year, 15% will carry a hereditary
pathogenic germline variant (PGV) including some associated with syndromes (such as Lynch Syndrome and
Familial Adenomatous Polyposis) that are associated with a 35-100% lifetime risk of cancer. Identification of
these PGVs through germline genetic testing informs treatment, screening, and familial cascade testing to
reduce cancer incidence, morbidity, and mortality. In 2022, national guidelines expanded indications to
consider genetic testing in all patients with CRC, yet only 5.6% of CRC patients undergo genetic testing in the
US. Conventional pathways for genetic testing require non-genetic healthcare provider (NGHCP) referral to
genetic counselors, leading to several gaps where patients may fail to complete testing. Mainstream genetic
testing (MGT) has emerged as an effective pathway to increase rates of genetic testing in which NGHCPs
perform pre-test counseling and coordinate genetic testing. However, the national uptake of MGT has been
limited. The goal of this project is to increase the use of MGT in CRC by characterizing barriers to
implementing MGT for CRC and piloting a multi-level implementation strategy tailored to these barriers. We
will assess barriers among NGHCPs (i.e. surgeons, medical oncologists, and radiation oncologists) and
institutional stakeholders (i.e. clinic nurses, clinic managers, genetic counselors) through semi-structured
qualitative interviews. Patient perceptions of MGT will be assessed using a sequential explanatory mixed
methods approach. CRC patients will be surveyed regarding perceptions of MGT and semi-structured
qualitative interviews will explore these preferences. Identified barriers/needs will be used to tailor a multi-level
implementation strategy consisting of provider education, technical assistance by genetic counselors, and
provision of patient education materials. The multi-level implementation strategy for MGT will be pilot tested at
two institutions in Alabama to determine patient level reach (clinical outcome) and provider perception of
acceptability, appropriateness, and feasibility (survey data). This mentored research and a structured training
plan to gain expertise in implementation science and exposure to mixed methods will facilitate my career
development plan. My long-term goal is to use implementation science to improve outcomes in hereditary
colorectal cancer patients. The findings of this proposal will inform a hybrid effectiveness-implementation trial
(R01 proposal) for implementing MGT in CRC patients and provide me a direct pathway to becoming an
independent investigator.
