前列腺癌（PrCa）是一种很大程度上具有遗传性的多基因疾病。它是欧洲和美国前列腺患者 (PwP) 中最常见的癌症，包括非洲裔 PwP。 2020 年，在英国，52% 的癌症在 I 期或 II 期被诊断出来。国家卫生服务 (NHS) 长期计划是到 2028 年将这一比例提高到 75%，以降低晚期疾病的绝对发病率。在英国缺乏 PrCa 筛查计划的情况下，我们应该探索如何识别那些具有临床意义的 PrCa 风险增加的人。将基因组学纳入 PrCa 筛查、诊断和治疗途径对于改变患者护理具有巨大潜力。基因组学可以通过关注那些具有癌症遗传倾向的人来提高 PrCa 筛查的效率，当与年龄和种族等风险因素相结合时，可以用于基于风险的筛查 (RBS) 计划中的风险分层。 RBS 的目标是促进有临床意义的 PrCa 的早期诊断，并减少那些一生中不太可能出现 PrCa 相关症状的人的过度诊断/过度治疗。基因检测可以通过识别那些面临致命性 PrCa 风险的人并获得新型靶向治疗来指导 PrCa 管理。如果诊断为 III 期以下（此时大多数人不会出现症状），PrCa 是可以治愈的。如果我们能够显示出更好的生存结果（或减少导致交付时间偏差的癌症特异性死亡率），并且比单独基于年龄的筛查具有更高的成本效率，那么使用基因分析的 RBS 可能是关键。此外，如果可以进行基因检测，则可以优化服务不足社区的 PrCa 结果，从而最大限度地减少健康差异。© 作者（或其雇主）2024。禁止商业重复使用。请参阅权利和权限。英国医学杂志出版。

Prostate cancer (PrCa) is a largely heritable and polygenic disease. It is the most common cancer in people with prostates (PwPs) in Europe and the USA, including in PwPs of African descent. In the UK in 2020, 52% of all cancers were diagnosed at stage I or II. The National Health Service (NHS) long-term plan is to increase this to 75% by 2028, to reduce absolute incidence of late-stage disease. In the absence of a UK PrCa screening programme, we should explore how to identify those at increased risk of clinically significant PrCa.Incorporating genomics into the PrCa screening, diagnostic and treatment pathway has huge potential for transforming patient care. Genomics can increase efficiency of PrCa screening by focusing on those with genetic predisposition to cancer-which when combined with risk factors such as age and ethnicity, can be used for risk stratification in risk-based screening (RBS) programmes. The goal of RBS is to facilitate early diagnosis of clinically significant PrCa and reduce overdiagnosis/overtreatment in those unlikely to experience PrCa-related symptoms in their lifetime. Genetic testing can guide PrCa management, by identifying those at risk of lethal PrCa and enabling access to novel targeted therapies.PrCa is curable if diagnosed below stage III when most people do not experience symptoms. RBS using genetic profiling could be key here if we could show better survival outcomes (or reduction in cancer-specific mortality accounting for lead-time bias), in addition to more cost efficiency than age-based screening alone. Furthermore, PrCa outcomes in underserved communities could be optimised if genetic testing was accessible, minimising health disparities.© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.