Hsu Rebecca L, Gutierrez Amanda M, Schellhammer Sophie K, Robinson Jill O, Scollon Sarah, Street Richard L, Salisbury Alyssa N, Pereira Stacey, Plon Sharon E, Malek Janet, Parsons D Williams, McGuire Amy L
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
J Pers Med. 2021 Jun 18;11(6):570. doi: 10.3390/jpm11060570.
Pediatric oncologists' perspectives around returning and incorporating tumor and germline genomic sequencing (GS) results into cancer care are not well-described. To inform optimization of cancer genomics communication, we assessed oncologists' experiences with return of genomic results (ROR), including their preparation/readiness for ROR, collaboration with genetic counselors (GCs) during ROR, and perceived challenges. The BASIC3 study paired pediatric oncologists with GCs to return results to patients' families. We thematically analyzed 24 interviews with 12 oncologists at two post-ROR time points. Oncologists found pre-ROR meetings with GCs and geneticists essential to interpreting patients' reports and communicating results to families. Most oncologists took a collaborative ROR approach where they discussed tumor findings and GCs discussed germline findings. Oncologists perceived many roles for GCs during ROR, including answering families' questions and describing information in lay language. Challenges identified included conveying uncertain information in accessible language, limits of oncologists' genetics expertise, and navigating families' emotional responses. Oncologists emphasized how GCs' and geneticists' support was essential to ROR, especially for germline findings. GS can be successfully integrated into cancer care, but to account for the GC shortage, alternative ROR models and access to genetics resources will be needed to better support families and avoid burdening oncologists.
儿科肿瘤学家对于将肿瘤和种系基因组测序（GS）结果反馈并纳入癌症治疗的观点尚未得到充分描述。为了为癌症基因组学沟通的优化提供信息，我们评估了肿瘤学家在基因组结果反馈（ROR）方面的经验，包括他们对ROR的准备情况/就绪程度、在ROR期间与遗传咨询师（GC）的合作以及感知到的挑战。BASIC3研究将儿科肿瘤学家与GC配对，以便向患者家属反馈结果。我们对在两个ROR后时间点对12名肿瘤学家进行的24次访谈进行了主题分析。肿瘤学家发现，在ROR之前与GC和遗传学家的会议对于解读患者报告并向家属传达结果至关重要。大多数肿瘤学家采取合作的ROR方法，他们讨论肿瘤发现，而GC讨论种系发现。肿瘤学家认为GC在ROR期间有许多作用，包括回答家属的问题并用通俗易懂的语言描述信息。确定的挑战包括用通俗易懂的语言传达不确定的信息、肿瘤学家遗传学专业知识的局限性以及应对家属的情绪反应。肿瘤学家强调GC和遗传学家的支持对ROR至关重要，特别是对于种系发现。GS可以成功地整合到癌症治疗中，但考虑到GC短缺的情况，将需要替代的ROR模式和获取遗传学资源，以更好地支持家属并避免给肿瘤学家造成负担。
