Free tests and direct contact raised cascade genetic testing among relatives, trial finds
Of 194 patients with pathogenic variants, 28 consented and referred 97 relatives to a 2026 randomized feasibility trial of the CHARGE approach. Relatives in the intervention arm were contacted directly and told about a free testing window offered by laboratories. Relative-reported testing reached 53 percent (8 of 15) in that arm and 22 percent (2 of 9) under usual care. After adjustment, the odds of testing were higher with the intervention, at an odds ratio of 7.7 (p=0.04). Probands and relatives rated the study procedures as acceptable.
Relatives of patients with pathogenic variants may be more likely to get tested if a clinic contacts them directly and mentions a free testing window. The trial reached 23 percent of eligible probands (28 of 122). The authors say clinically integrated recruitment may be necessary.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].