In the new era of precision medicine in cancer treatment, many oncologists use patient tumor genomic (somatic) data as part of routine clinical practice.¹ Cancer clinical trials are increasingly stratified by genomics, which requires the detection of specific genetic alterations in the tumor to consider patients eligible for treatment with novel targeted and immune-based therapies. While somatic tumor testing is useful to guide treatment decision-making, it can also reveal the presence of germline variants, which have broader clinical implications for both patients and their families. Rates of identifiable germline DNA damage repair variants vary by cancer site. They affect more than 10% of patients with cancer, equivalent to more than 40 000 patients with newly diagnosed cancer in 2019 alone.² However, pretest education for somatic tumor testing is not a standard practice, and therefore patients may not be aware of the possibility of uncovering germline variants through somatic testing.

在癌症治疗精准医学的新时代，许多肿瘤学家将患者肿瘤基因组（体细胞）数据作为常规临床实践的一部分。 ¹癌症临床试验越来越多地根据基因组学进行分层，这需要检测肿瘤中的特定基因改变，以考虑患者是否有资格接受新型靶向和免疫疗法的治疗。虽然体细胞肿瘤检测有助于指导治疗决策，但它还可以揭示种系变异的存在，这对患者及其家人具有更广泛的临床意义。可识别的种系 DNA 损伤修复变异的比率因癌症部位而异。它们影响了超过 10% 的癌症患者，相当于仅 2019 年就有超过 40,000 名新诊断癌症患者。 ²然而，体细胞肿瘤检测的预检测教育并不是标准做法，因此患者可能不知道通过体细胞检测发现种系变异的可能性。