Journal: Journal of human genetics
This multicenter Japanese study evaluated the short-term psychological impact of multigene panel cascade testing on 123 first-degree relatives without a personal history of cancer.
Design:
- • Prospective assessment at pre-test (T0) and 2 weeks post-result disclosure (T1).
- • Measures:
- • Cancer Worry Scale–Japanese (CWS-J) at T0 and T1
- • Impact of Event Scale–Revised (IES-R) at T1
Key findings:
- • Clinically significant distress (by IES-R) at T1 occurred in 6.5% of relatives.
- • Mean IES-R scores:
- • Pathogenic variant carriers: 8.2
- • Negative results: 4.8
- • Variants of uncertain significance: 2.4
- • However, in multivariate analysis, test result category was not independently associated with post-disclosure distress.
- • The strongest predictor of higher IES-R scores at T1 was higher baseline cancer worry (CWS-J) (p < 0.001).
- • Children of probands and relatives who frequently discussed cancer risk within the family reported higher distress than other subgroups.
- • CWS-J scores did not significantly change from T0 to T1; 41% had persistently high cancer worry.
- • Across both time points, these unaffected relatives had consistently lower cancer worry than individuals with cancer.
Clinical implication:
- • Cascade multigene panel testing in unaffected relatives appears to have minimal overall short-term psychological impact.
- • The main risk group for distress comprises those with elevated preexisting cancer worry, suggesting the need for targeted psychosocial support rather than broad concern about testing-related harm.