Cross-sectional study reveals low genetic testing uptake in at-risk relatives of gynecological cancer probands, suggesting intrafamilial communication facilitates cascade testing.
Key Points
To assess the uptake of family-specific variant genetic testing among at-risk relatives of probands with hereditary gynecological cancer and identify independent factors influencing testing uptake.
Conducted a cross-sectional study from August 2023 to September 2024 at the Obstetrics and Gynecology Hospital of Fudan University.
Enrolled 70 probands carrying pathogenic or likely pathogenic (P/LP) germline variants (90.00% BRCA1/2) and 307 of their at-risk relatives.
Administered questionnaires capturing proband, relative, and interpersonal characteristics, analyzed via multivariate binary logistic regression.
Overall uptake of family-specific genetic testing was 36.16% (111/307) among at-risk relatives, with 47.75% (53/111) testing positive for P/LP variants; first-degree relatives demonstrated a 32.38% (79/244) uptake rate and 49.37% (39/79) positivity rate.
Independent positive predictors of testing uptake were a bachelor's degree or higher (OR = 2.106, 95% CI: 1.211–3.664, P = 0.008), very good family relationship quality (OR = 1.905, 95% CI: 1.087–3.340, P = 0.024), and communication frequency ≥ 5 times per month (OR = 3.952, 95% CI: 1.720–9.077, P = 0.001).