The University of Sydney, Faculty of Medicine and Health, Sydney School of Public Health, Cancer Epidemiology and Prevention Research, Sydney, Australia; The University of Sydney, Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, Sydney, Australia; The University of Sydney, Melanoma Institute Australia, Australia.
The University of Sydney, Faculty of Science, School of Psychology, Psycho-Oncology Co-operative Research Group, Sydney, Australia.
Patient Educ Couns. 2021 May;104(5):944-952. doi: 10.1016/j.pec.2020.10.022. Epub 2020 Oct 20.
This study explored family communication about undertaking genomic sequencing, and intentions to communicate pertinent heritable results to family members.
Semi-structured interviews were conducted with cancer patients (n = 53) and their relatives (n = 20) who underwent germline genome sequencing or molecular tumor testing. Interviews were audio-recorded, transcribed and analyzed using thematic analysis.
Key themes relevant to family communication about undertaking sequencing included: perceiving family member interest, delaying discussion until results were received, having shared capacity to understand and cope, and having open communication in the family. Intended communication subsequent to receiving results was affected by: disease severity, risk management options, degree of closeness in the family, sense of responsibility, and potential adverse impacts on family. Resource and support needs varied based on the complexity of test results, health professionals' availability, and disease severity. Unique subthemes were identified for specific subgroups.
Current findings support the need to assess the impact and resource needs specific to each clinical application of genomic sequencing.
Increasingly sophisticated and complex clinical genomic sequencing warrants development of family-centered interventions and resources to facilitate preference-sensitive communication about genomic sequencing, including disseminating relevant information to family members.
本研究探讨了关于进行基因组测序的家庭沟通情况，以及向家庭成员传达相关可遗传结果的意愿。
对接受种系基因组测序或分子肿瘤检测的癌症患者（n=53）及其亲属（n=20）进行了半结构化访谈。对访谈进行了录音、转录，并使用主题分析进行了分析。
与进行测序的家庭沟通相关的主要主题包括：感知家庭成员的兴趣、在收到结果之前延迟讨论、有共同的理解和应对能力，以及家庭内有开放的沟通。在收到结果后，预期的沟通会受到以下因素的影响：疾病的严重程度、风险管理选项、家庭关系的密切程度、责任感，以及对家庭的潜在不利影响。资源和支持需求因测试结果的复杂性、卫生专业人员的可用性以及疾病的严重程度而有所不同。还为特定的亚组确定了独特的子主题。
目前的研究结果支持需要评估基因组测序的每个临床应用的影响和资源需求。
日益复杂和复杂的临床基因组测序需要制定以家庭为中心的干预措施和资源，以促进对基因组测序的偏好敏感沟通，包括向家庭成员传播相关信息。
