PATIENTS AND METHODS Probands with newly diagnosed cancer-associated pathogenic variants were offered facilitated cascade testing whereby the genetics team identified and contacted ARRs by telephone to disclose the familial pathogenic variant and offer telephone counseling and mailed saliva testing. Results and guideline-based recommendations were reviewed by telephone and shared with the primary care physician. RESULTS Thirty probands were enrolled, and 114 ARRs were identified. Twelve ARRs were excluded (lived outside of the United States, n = 5; proband did not approve of contact, n = 7). Among 102 ARRs telephoned, contact was established with 95 (93%). Among 114 identified ARRs, 66 (58%) completed genetic testing. Among those completing testing, 27 (41%) carried the familial pathogenic variant. Surveys of ARRs at the time of genetic testing and 6 months later demonstrated low levels of anxiety, depression, distress, and uncertainty and high levels of satisfaction with testing. At 6 months, 7 ARRs with pathogenic variants had undergone cancer surveillance interventions and 4 had undergone cancer risk-reducing surgery. CONCLUSION Facilitated cascade testing with telephone genetic counseling and mailed saliva kits resulted in high testing uptake among ARRs. Positive genetic testing resulted in utilization of genetically targeted primary disease prevention at short-term follow-up. Facilitated cascade testing is a straightforward, low-cost, easily implemented strategy with significant potential to promote early detection for affected ARRs and reduce cancer mortality and should be evaluated in larger scale clinical trials.

中文翻译：

---

使用电话咨询的促进级联基因检测新策略的前瞻性可行性试验

患者和方法 向具有新诊断的癌症相关致病变异的先证者提供便利的级联检测，遗传学团队通过电话识别和联系 ARR 以披露家族性致病变异，并提供电话咨询和邮寄唾液检测。结果和基于指南的建议通过电话审查并与初级保健医生分享。结果 招募了 30 名先证者，并确定了 114 名 ARR。12 名 ARR 被排除在外（居住在美国境外，n = 5；先证者不同意接触，n = 7）。在致电的 102 名 ARR 中，与 95 名 (93%) 建立了联系。在确定的 114 例 ARR 中，66 例（58%）完成了基因检测。在完成测试的人中，27 人（41%）携带家族性致病变异。基因检测时和 6 个月后的 ARR 调查表明，焦虑、抑郁、痛苦和不确定性水平较低，对检测的满意度较高。在 6 个月时，7 名具有致病变异的 ARR 接受了癌症监测干预，4 名接受了降低癌症风险的手术。结论 通过电话遗传咨询和邮寄唾液试剂盒进行的简化级联检测导致 ARR 中的高检测率。阳性基因检测导致在短期随访中利用基因靶向初级疾病预防。简易级联检测是一种直接、低成本、易于实施的策略，具有促进受影响 ARR 的早期检测和降低癌症死亡率的巨大潜力，应在更大规模的临床试验中进行评估。