Tumour genomic profiling (TGP), conducted in search of therapeutics, sometimes reveals potentially pathogenic germline variants as secondary findings (SFs). Physicians involved in TGP are often specialised in oncology and not in clinical genetics. To better utilise SFs, we explored issues physicians have during disclosure and the potential for collaborations with clinical genetics professionals. Semi-structured interviews were conducted with 14 physicians who had experience in handling outpatient TGP at designated core hospitals for cancer genomic medicine in Japan. The data were analysed thematically. The difficulties physicians experienced during informed consent (IC) included educating patients about SFs, providing detailed information on SFs, and explaining the impact of SFs on patients’ family members. When SFs were detected, physicians had reservations regarding the relevance of the disclosure criteria. Confirmatory germline tests were performed using peripheral blood when tumour-only tests detected suspected SFs. Some physicians had reservations about the necessity of confirmatory tests when they did not affect the patients’ treatment options. To encourage patients to receive confirmatory tests, improvements are necessary in the healthcare system, such as insurance reimbursements, education for physicians so that they can provide a better explanation to their patients, and genetic literacy of physicians and patients. The physicians offered insights into the challenges they experienced related to IC, disclosure of SFs, and expectations for active collaborations with clinical genetics professionals. Wider healthcare insurance coverage and better genetic literacy of the population may lead to more patients taking confirmatory tests when SFs are suspected.

为寻找治疗方法而进行的肿瘤基因组分析 (TGP) 有时会揭示潜在的致病性种系变异作为次要发现 (SF)。参与 TGP 的医生通常专攻肿瘤学而非临床遗传学。为了更好地利用 SF，我们探讨了医生在披露期间遇到的问题以及与临床遗传学专业人员合作的可能性。对 14 名在日本癌症基因组医学指定核心医院有处理门诊 TGP 经验的医生进行了半结构化访谈。对数据进行了专题分析。医生在知情同意 (IC) 期间遇到的困难包括对患者进行有关 SF 的教育、提供有关 SF 的详细信息以及解释 SF 对患者家属的影响。当检测到 SF 时，医生对披露标准的相关性持保留意见。当仅肿瘤测试检测到疑似 SF 时，使用外周血进行确认性种系测试。在不影响患者治疗选择的情况下，一些医生对确认测试的必要性持保留态度。为了鼓励患者接受确认测试，医疗保健系统有必要进行改进，例如保险报销、医生教育以便他们能够向患者提供更好的解释，以及医生和患者的基因素养。医生们就他们所经历的与 IC 相关的挑战、SF 的披露以及与临床遗传学专业人员积极合作的期望提供了见解。