Manchanda Ranjit, Lieberman Sari, Gaba Faiza, Lahad Amnon, Levy-Lahad Ephrat
Wolfson Institute of Preventive Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom; email:
Department of Gynaecological Oncology, Barts Health NHS Trust, London E1 1FR, United Kingdom.
Annu Rev Genomics Hum Genet. 2020 Aug 31;21:373-412. doi: 10.1146/annurev-genom-083118-015253. Epub 2020 Apr 21.
The discovery of genes underlying inherited predisposition to breast and ovarian cancer has revolutionized the ability to identify women at high risk for these diseases before they become affected. Women who are carriers of deleterious variants in these genes can undertake surveillance and prevention measures that have been shown to reduce morbidity and mortality. However, under current strategies, the vast majority of women carriers remain undetected until they become affected. In this review, we show that universal testing, particularly of the and genes, fulfills classical disease screening criteria. This is especially true for and in Ashkenazi Jews but is translatable to all populations and may include additional genes. Utilizing genetic information for large-scale precision prevention requires a paradigmatic shift in health-care delivery. To address this need, we propose a direct-to-patient model, which is increasingly pertinent for fulfilling the promise of utilizing personal genomic information for disease prevention.
乳腺癌和卵巢癌遗传易感性相关基因的发现，彻底改变了在女性患病前识别高危女性的能力。这些基因中携带有害变异的女性可以采取已被证明能降低发病率和死亡率的监测及预防措施。然而，按照当前策略，绝大多数携带变异基因的女性在患病前仍未被检测出来。在本综述中，我们表明，普遍检测，尤其是对 和 基因的检测，符合经典疾病筛查标准。这在阿什肯纳兹犹太人的 和 基因检测中尤为如此，但也适用于所有人群，可能还包括其他基因。利用基因信息进行大规模精准预防需要医疗保健服务模式的范式转变。为满足这一需求，我们提出一种直接面向患者的模式，这对于实现利用个人基因组信息进行疾病预防的承诺越来越重要。
