Family communication and education associated with hereditary cancer testing uptake

Family-specific variant genetic testing was completed by 36.16% of relatives considered at risk for hereditary gynecological cancer, according to a cross-sectional study conducted at the Obstetrics and Gynecology Hospital of Fudan University between August 2023 and September 2024. Among the 111 relatives who were tested, 53 (47.75%) carried pathogenic or likely pathogenic germline variants. The study also found that higher educational attainment, better-rated family relationships and more frequent communication with the proband were independently associated with testing uptake.

The researchers enrolled 70 probands with confirmed pathogenic or likely pathogenic germline variants in hereditary gynecological cancer susceptibility genes, along with 307 at-risk relatives. Among the probands, isolated ovarian cancer was the most common personal malignancy, accounting for 60.00%, followed by isolated breast cancer at 31.43%; synchronous ovarian and breast cancer occurred in 1.43%. BRCA1 or BRCA2 germline mutations were detected in 90.00% of probands. Self-designed questionnaires collected information about the probands, the relatives and the characteristics of their relationships, while multivariable binary logistic regression was used to identify factors associated with uptake of family-specific variant testing.

Overall, 111 of the 307 relatives underwent testing. Of these participants, 53 carried pathogenic or likely pathogenic germline variants. First-degree relatives made up 244 of the 307 relatives, or 79.48% of the cohort. Testing was completed by 79 of the 244 first-degree relatives, a rate of 32.38%, and 39 of those tested, or 49.37%, carried pathogenic or likely pathogenic variants. The results describe testing uptake and the identification of variants among those who sought testing; the study did not evaluate whether testing resulted in changes in clinical management, cancer prevention or clinical outcomes.

In multivariable analyses of the full relative cohort, having a bachelor’s degree or above was associated with higher odds of testing compared with lower educational attainment (odds ratio [OR] 2.106, 95% confidence interval [CI] 1.211–3.664; P = 0.008). A very good overall family relationship was likewise associated with higher odds of testing (OR 1.905, 95% CI 1.087–3.340; P = 0.024). The strongest measured association was with communication frequency: relatives who communicated with the proband at least five times per month had nearly four times the odds of undergoing testing compared with those communicating less frequently (OR 3.952, 95% CI 1.720–9.077; P = 0.001). Similar independent effects were observed in the first-degree relative subgroup.

These findings identify family communication, relationship quality and education as factors statistically associated with uptake in this at-risk population, but they do not establish that those characteristics caused relatives to seek testing. The cross-sectional design limits conclusions about temporal sequence and leaves the direction of the relationships unresolved. The sample was also drawn from a single hospital, and the reported results concern uptake among the enrolled relatives rather than all eligible members of each family. The authors’ proposed family-centered communication and educational approaches may inform future work, but neither intervention was tested in this study. Overall, the findings point to substantial missed opportunities for family-specific variant testing while underscoring the need to evaluate strategies that could increase participation.

Subject of Research: Determinants of family-specific genetic testing uptake among relatives of hereditary gynecological cancer probands

Article Title: Uptake and associated factors of family-specific variant genetic testing among at-risk relatives of hereditary gynecological cancer probands

Article References: Wang, X., Wang, H., Cai, H., You, J., Zhao, Y., Chen, X., & Ding, Y. (2026). Uptake and associated factors of family-specific variant genetic testing among at-risk relatives of hereditary gynecological cancer probands. BMC Cancer. https://doi.org/10.1186/s12885-026-16892-5

Image Credits: AI Generated

DOI: 10.1186/s12885-026-16892-5

Keywords: hereditary gynecological cancer, genetic testing, cascade testing, BRCA1, BRCA2, family communication, germline variants, health education, Uptake, associated, factors, family-specific