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The following is a summary of “Uptake and patient-related outcomes of mainstreaming genetic testing – a systematic review and meta-analysis,” published in the April 2025 issue of American Journal of Obstetrics & Gynecology by Kalra et al. 

Researchers conducted a retrospective study to assess the uptake and patient-reported outcomes of mainstreaming genetic testing for cancer susceptibility genes following diagnosis.  

They searched PubMed and the Cochrane Library from inception to June 2024. The study population included adult patients offered mainstreaming genetic testing (Intervention). Outcomes assessed were testing uptake, satisfaction, decisional conflict/regret, anxiety, depression, and cancer-related distress. They followed a prospective protocol adhering to PRISMA guidelines (PROSPERO: CRD42023467312). Qualitative synthesis and random-effects meta-analyses were conducted, with quality assessed using the Methodological Index for Non-Randomized Studies (MINORS).  

The results showed that 29 studies (n=13,219) were included, covering ovarian (14 studies, n=6,039), breast (6 studies, n=4,354), prostate (3 studies, n=772), endometrial (1 study, n=302), and multiple cancers (5 studies, n=1,752). No studies were found for colorectal cancer. Pooled genetic testing uptake was 91% (95%CI=86-96%, I² =99.6%, n=5,942). Unselected testing uptake was 95% (95%CI=92-98%, I² =98.4%, n=3,946), while family history/clinical criteria-based uptake was 80% (95%CI=63-97%, I² =99.0%, n=1996). Uptake for ovarian cancer was 93% (95%CI=88-98%, I² =98.6%, n=2,801), breast cancer 95% (95%CI=90-99%, I² =94.78%, n=981), endometrial cancer 99% (95%CI=98-100%, I² =0.0%, n=304), and prostate cancer 73% (95%CI=47-99%, I² =98.8%, n=772). Pre-test (24.24, 95%CI:23.34-24.14, I² =93.0%) and post-test (16.11, 95%CI:15.27-16.96, I² =80.3%) Decisional Conflict Scale scores were low, decreasing significantly (P=0.03). Pre- and post-test satisfaction scores were high in 14 studies (n=3093). Decisional regret (4 studies, n=393), pre- and post-test depression (2 studies, n=252), and post-test distress (5 studies, n=773) were low. Anxiety levels varied from low to high pre-test (4 studies, n=1,079) and low to moderate post-test (5 studies, n=1,231), with pre-test distress ranging from low to moderate (2 studies, n=594).  

Investigators concluded that mainstreaming genetic testing uptake was associated with high uptake and satisfaction, along with low decision conflict, regret, and post-test distress, although the quality and quantity of evidence varied significantly across different cancer types. 

Source: ajog.org/article/S0002-9378(25)00259-5/abstract