In Reply Regarding the deficiency in cell-free DNA (cfDNA) reports not reporting germ-line abnormalities, we¹ certainly agree with Dr Sorscher. The current approach of ordering both a cfDNA test from one laboratory and a germ-line analysis from another is both inefficient and expensive. Indeed, patients with advanced disease can find themselves in a situation where the germ-line testing is reimbursed and the cfDNA is not, or vice versa. A combined germ-line and cfDNA somatic test makes particular sense in the setting of PARP inhibition, where a BRCA1/2 mutation may identify a patient with sensitive disease irrespective of whether the mutation is germ-line or somatic. A test that does not do both risks missing patients who could benefit.

在答复关于无细胞 DNA (cfDNA) 报告未报告生殖系异常的问题时，我们¹当然同意 Sorscher 博士的观点。目前从一个实验室订购 cfDNA 测试和从另一个实验室订购种系分析的方法既低效又昂贵。事实上，晚期疾病患者可能会发现自己处于种系检测得到报销而 cfDNA 没有得到报销的情况，反之亦然。结合种系和 cfDNA 体细胞测试在 PARP 抑制的情况下特别有意义，其中BRCA1/2突变可以识别患有敏感疾病的患者，无论突变是种系还是体细胞。一项不能同时进行的测试可能会错过可能受益的患者。