Graduation Date
Spring 5-2-2024
Document Type
Capstone
Degree Name
Master’s of Genetic Counseling
Department
Genetic Counseling
First Advisor
Bronson Riley
Abstract
Genetic testing plays a role in oncology care by providing insight into patient’s cancer risk and guiding medical management. Variants in genes are classified by their potential to cause disease according to the five-tier system recommended by the American College of Medical Genetics (ACMG). Reclassification of variants is fluid and can lead to both changes in medical management and challenging discussions. Previous research has described methods genetic counselors use for recontacting patients about reclassification, but not whether these methods align with patient preferences. This study employed a mixed methods survey for patients in Nebraska (recruited via flyer and mail) and a support group (recruited via a research webpage) who received reclassified results for hereditary cancer genetic testing to explore their preferences for provider communications about upgraded and downgraded results. Descriptive statistics provided an overview of participant reclassifications and examined frequencies in preferences, satisfaction, and understanding depending on the type of reclassification. Inductive thematic analysis of open-ended responses was used to further describe patient preferences. Nine participants responded to the survey (three upgrades & six downgrades). Our findings revealed high levels of satisfaction with phone calls as a recontact method and the informational content of the discussion regardless of reclassification type. Themes informing participant satisfaction included communication clarity, uncertainty about results, and communication timeliness. Respondents reported high levels of confidence on Likert scale questions in understanding reclassified result. Themes surrounding understanding included acknowledgment of evolving genetics knowledge and expectation setting with a provider. Genetic counselors were the highest ranked provider to perform recontact. Notably, all respondents expressed a preference for recontact regardless of impact on medical management. This is consistent with current practice by genetic counselors despite lack of official guidelines regarding reclassification disclosure. Varied emotional reactions to reclassifications including relief, fear, frustration, and happiness underscored the need for empathetic communication.
Recommended Citation
McElfresh, Mitchell; Hutto, Katie; Reiser, Gwen; Riley, Bronson; and King, Charlie, "Examining Patient Preferences and Perceptions of Provider Communication Strategies for Variant Reclassification in Hereditary Cancer Genetic Testing" (2024). Genetic Counseling Capstones. 2.
https://digitalcommons.unmc.edu/gc_capstones/2