BRCA1 testing during prenatal screening found cost-effective
In a recent study, a significant improvement in the average quality-adjusted life years gained was reported following BRCA1 testing during obstetrical prenatal carrier screening.
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It is cost-effective to add BRCA1 testing to obstetrical prenatal carrier screening for determining risk in women, according to a recent study published in the American Journal of Obstetrics & Gynecology.1
A BRCA1/2 pathogenic variant is reported in approximately 1 in 400 individuals, with mutations in the BRCA1 gene linked to significantly increased long-term breast, ovarian, and pancreatic cancer risks. Therefore, precancer screening is crucial to reduce cancer incidence and mortality.
Innovations have been implemented to improve cancer screening among women.2 This includes the implementation of self-sampling cervical cancer and colorectal cancer screening during breast cancer screening, which was evaluated in a recent study.
At baseline, 8.6% of patients receiving the intervention were overdue for screening, vs 8.2% of controls. However, screening coverage rose to 88.3% at 6 months in the intervention group, indicating a 4.8% improvement vs the control group.
Breast cancer screening begins when aged 25 years among women with a BRCA1 mutation, but there is no effective screening option for ovarian cancer.1 Additionally, hereditary cancer syndromes are often identified after primary cancer diagnoses, leading to under 20% of patients being identified before a cancer diagnosis. This indicates a need for improved screening.
Investigators conducted a study to evaluate the cost-effectiveness of universal implementation of autosomal dominant disorders such as BRCA1 testing during obstetrical prenatal carrier screening. The clinical trajectory of patients receiving screening was estimated using a decision tree plus Markov model.
The data included over 76,000 genomes and 730,000 exomes across more than 25 countries, and trajectories were modeled in patients with a BRCA1 mutation undergoing BRCA1 testing, those with a BRCA1 mutation not undergoing testing, and those without a BRCA1 mutation. The average quality-adjusted life years (QALYs) gained was used to determine efficacy.
Cost-effectiveness was reported as the primary outcome of the analysis, measured using incremental cost-effectiveness ratios (ICERs) of 2022 US dollars. The ICER was measured by dividing the difference in total cost by the difference in QALYs.
A hypothetical cohort of 1,429,074 patients was formed, with the starting age of 33 years determined based on the median age of obstetrical prenatal screening in the United States. Annual breast mammogram and breast magnetic resonance imaging was assumed in patients with positive BRCA1 testing.
QALYs were measured by multiplying the years of life with a utility between 0 and 1 for the worst possible health and best possible health, respectively. The National Center for Health Statistics life tables were assessed to determine survivability. Finally, literature and administrative datasets were assessed to determine costs.
Of the 1,429,074 patients in the cohort, BRCA1 testing during carrier screening led to identification of BRCA1 in 3716 patients. This led to 1394 prevented breast and ovarian cancer cases and 1084 prevented deaths. The cost of no BRCA1 testing was $52,493 per patient vs $53,000 for patients receiving BRCA1 testing.
Overall, efficacy was increased by BRCA1 testing vs no BRCA1 testing, with QALYs of 23.74 and 23.73, respectively. Improved cost-effectiveness was also reported, with an ICER of $86,001/QALYs.
In a sensitivity analysis, BRCA1 testing remained cost-effective until the prevalence rate dropped to 0.16%. Cost-effectiveness was also reported in 70% of trials from a probabilistic sensitivity analysis Monte Carlo simulation.
These results indicated cost-effectiveness from BRCA1 testing during obstetrical prenatal carrier screening. Investigators concluded prenatal care provides an opportunity for population-based genetic testing.
Reference
- Dioun SM, Perez LR, Prabhu M, et al. Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention. American Journal of Obstetrics & Gynecology. 2024;231(3):330.E1-330.E14. doi:10.1016/j.ajog.2024.04.014
- Krewson C. Offering cervical and colorectal cancer screening at breast cancer screening found effective. Contemporary OB/GYN. August 26, 2024. Accessed September 20, 2024. https://www.contemporaryobgyn.net/view/offering-cervical-and-colorectal-cancer-screening-at-breast-cancer-screening-found-effective
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