UC Irvine

An important benefit of cancer genetic testing is the potential for detection of an actionable mutation in genes conferring an increased lifetime risk for hereditary cancer. Individuals with a suggestive personal or family history may seek genetic counseling to assess their risk and pursue genetic testing. Genetic counselors review detected pathogenic variants, in combination with personal and family history, to make recommendations for cancer risk management. Two major recommendations include clinical screening (such as imaging) and surgical methodologies designed to prevent or detect cancer at an early and more treatable stage. Uptake of recommendations can vary significantly across patient populations with diverse medical histories, family histories, socioeconomic factors, and institutional factors. Previous studies have identified trends in risk management behavior for high-risk patients after genetic counseling, including facilitators and barriers to uptake. Cancer genetics clinics can apply this knowledge to improve outcomes for low-uptake groups through enhanced service delivery models, provider education, and community engagement. This study aimed to characterize a population of mutation-positive patients (n=149) who have received genetic counseling at UCI from 2018-2020 in order to evaluate uptake of risk management recommendations. In general, uptake of recommended screening and suggested surgery was high for this group of patients; 74% of those who were provided with screening recommendations were documented as having completed screening, and 36% of those who had discussed surgery with a genetic counselor were documented as having completed a subsequent surgery. Patient demographics, personal medical history, family history, and genetic counseling visit details were analyzed as possible predictors of uptake, and were ultimately not determined to be strong predictors. However, for a subset of the population (n=22, 14.8%), the charts which may have documented risk management behavior were not available, perhaps because these patients had on-going healthcare outside of the medical system. Whether patients initiated genetic testing outside of UCI, and whether they received only post-test counseling were predictors for availability of charts. The lack of complete information on all study participants limited the statistical power to identify significant predictors of risk management behavior. Overall, this study revealed high uptake for risk management recommended in the genetic counseling clinic, though significant predictors for uptake were not identified. The findings of this study underscore the importance of accessible, thorough documentation available between care sites to improve longitudinal research on genetic counseling outcomes and achieve comprehensive continuity of care.