Global interest in genetic testing for cancer susceptibility genes (CSG) has surged with falling costs, increasing awareness, and celebrity endorsement. Current access to genetic testing is based on clinical criteria/risk model assessment which uses family history as a surrogate. However, this approach is fraught with inequality, massive underutilization, and misses 50% CSG carriers. This reflects huge missed opportunities for precision prevention. Early CSG identification enables uptake of risk-reducing strategies in unaffected individuals to reduce cancer risk. Population-based genetic testing (PGT) can overcome limitations of clinical criteria/family history–based testing. Jewish population studies show population-based BRCA testing is feasible, acceptable, has high satisfaction, does not harm psychologic well-being/quality of life, and is extremely cost-effective, arguing for changing paradigm to PGT in the Jewish population. Innovative approaches for delivering pretest information/education are needed to facilitate informed decision-making for PGT. Different health systems will need context-specific implementation strategies and management pathways, while maintaining principles of population screening. Data on general population PGT are beginning to emerge, prompting evaluation of wider implementation. Sophisticated risk prediction models incorporating genetic and nongenetic data are being used to stratify populations for ovarian cancer and breast cancer risk and risk-adapted screening/prevention. PGT is potentially cost-effective for panel testing of breast and ovarian CSGs and for risk-adapted breast cancer screening. Further research/implementation studies evaluating the impact, clinical efficacy, psychologic and socio–ethical consequences, and cost-effectiveness of PGT are needed.

中文翻译：

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用于精准预防的基于人群的基因检测

随着成本的下降、意识的提高和名人的认可，全球对癌症易感基因 (CSG) 的基因检测的兴趣激增。当前对基因检测的访问基于临床标准/风险模型评估，该评估使用家族史作为替代。然而，这种方法充满了不平等、大量的未充分利用，并且错过了 50% 的南航运营商。这反映了精准预防的巨大错失机会。早期 CSG 识别有助于在未受影响的个体中采用降低风险的策略，以降低癌症风险。基于人群的基因检测 (PGT) 可以克服基于临床标准/家族史的检测的局限性。犹太人口研究表明，基于人口的 BRCA 测试是可行的、可接受的、满意度高、不会损害心理健康/生活质量，并且极具成本效益，主张在犹太人口中将范式改变为 PGT。需要提供测试前信息/教育的创新方法，以促进 PGT 的知情决策。不同的卫生系统将需要针对具体情况的实施策略和管理途径，同时保持人口筛查的原则。关于一般人群 PGT 的数据开始出现，促使评估更广泛的实施。结合遗传和非遗传数据的复杂风险预测模型正被用于对卵巢癌和乳腺癌风险以及风险适应筛查/预防人群进行分层。PGT 对于乳腺和卵巢 CSG 的面板测试以及风险适应型乳腺癌筛查具有潜在的成本效益。