Graduation Year

2024

Document Type

Thesis

Degree

M.S.P.H.

Degree Name

MS in Public Health (M.S.P.H.)

Degree Granting Department

Global Health

Major Professor

Deborah Cragun, Ph.D., M.S., CGC

Committee Member

Jason Beckstead, Ph.D.

Committee Member

Tuya Pal, M.D., FACMG

Committee Member

Brittany Sears, Ph.D., M.S.P.H, LCGC

Keywords

cancer risk, genetic testing, germline, medical literacy, socioeconomic disparities

Abstract

Only 20-60% of information from medical appointments is estimated to be retained of which about half is recalled accurately; however there remains limited information about recall following disclosure of inherited cancer genetic test results (GTR). We sought to evaluate recall of GTRs and the association of recall with adherence to recommended cancer risk management (CRM). Study participants were consented individuals with a confirmed germline pathogenic or likely pathogenic variant (GPV) in an inherited cancer predisposing genes for which there are CRM guidelines per the National Comprehensive Cancer Network (NCCN). Through information collected through self-reported surveys, adherence to CRM was defined based on: 1) following recommended cancer surveillance with at least the recommended frequency, or 2) completion of recommended prophylactic surgery. Multiple logistic regression models were performed to analyze factors associated with accurate GTR recall and guideline adherence, while controlling for confounding factors. Among 618 participants with a GPV in one of 23 inherited cancer predisposition genes, 76 (12.3%) participants incorrectly or incompletely recalled their test results. Of these 76 participants, 16 (21.1 %) did not recall having testing, 9 (11.8%) incorrectly recalled their variant to be a variant of uncertain significance (VUS), 12 (15.8%) incorrectly recalled the gene in which they had the GPV, 28 (36.8%) knew they had a GPV but failed to report a specific gene, 9 (11.8%) failed to recall both their gene and that they had a GPV, and 2 (2.6%) reported an extra GPV in a gene for which they did not test positive. Higher recall was found among those with higher income (p =.007) and having previously discussed GTR with a genetic health professional (GHP) (p <.001). Those with inaccurate recall of their GPV had lower adherence to CRM compared to those with accurate recall (71.1% vs. 85.4%; p=.004) and this was a significant predictor of guideline adherence in the logistic regression model. Our findings indicate that inaccurate recall of GTR is associated with lower adherence to recommended CRM. Efforts to ensure accurate recall over time, as well as evaluation of factors associated with inaccurate GTR recall and adherence are important to optimize benefits following identification of a GPV in an inherited cancer predisposing gene.

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