Division of Quality of Life and Palliative Care, St. Jude Children's Research Hospital, Memphis, Tennessee.
Department of Biostatistics, St. Jude Children's Research Hospital, Memphis, Tennessee.
Cancer. 2019 Jul 15;125(14):2455-2464. doi: 10.1002/cncr.32071. Epub 2019 Mar 22.
Patients with cancer are increasingly offered genomic sequencing, including germline testing for cancer predisposition or other disorders. Such testing is unfamiliar to patients and families, and clear communication is needed to introduce genomic concepts and convey risk and benefit information.
Parents of children with cancer were offered the opportunity to have their children's tumor and germline examined with clinical genomic sequencing. Families were introduced to the study with a 2-visit informed consent model. Baseline genetic knowledge and self-reported literacy/numeracy were collected before a study introduction visit, during which basic concepts related to genomic sequencing were discussed. Information was reinforced during a second visit, during which informed consent was obtained and a posttest was administered.
As reflected by the percentage of correct answers on the pretest and posttest assessments, this model increased genetic knowledge by 11.1% (from 77.8% to 88.9%; P < .0001) in 121 parents participating in both the study introduction and consent visits. The percentage of parents correctly identifying the meaning of somatic and germline mutations increased significantly (from 18% to 59% [somatic] and from 31% to 64% [germline]; P < .0001). Nevertheless, these concepts remained unfamiliar to one-third of the parents. No relation was identified between the change in the overall percentage of correct answers and self-reported literacy, numeracy, or demographics.
The use of a 2-visit communication model improved knowledge of concepts relevant to genomic sequencing, particularly differences between somatic and germline testing; however, these areas remained confusing to many participants, and reinforcement may be necessary to achieve complete understanding.
越来越多的癌症患者被提供基因组测序，包括用于癌症易感性或其他疾病的种系检测。这种测试对患者和家属来说是陌生的，需要进行清晰的沟通，以介绍基因组概念并传达风险和收益信息。
为患有癌症的儿童的父母提供了机会，让他们的孩子的肿瘤和种系接受临床基因组测序。通过两访式知情同意模式向家庭介绍了该研究。在研究介绍访问之前收集了基本遗传知识和自我报告的读写能力/计算能力，在此期间讨论了与基因组测序相关的基本概念。在第二次访问期间强化了信息，在此期间获得了知情同意并进行了后测。
通过前测和后测评估的正确答案百分比反映，这种模式使 121 名参加研究介绍和同意访问的父母的遗传知识增加了 11.1%（从 77.8%提高到 88.9%；P<.0001）。正确识别体细胞和种系突变含义的父母比例显著增加（从 18%提高到 59%[体细胞]和从 31%提高到 64%[种系]；P<.0001）。然而，这些概念对三分之一的父母来说仍然不熟悉。整体正确答案百分比的变化与自我报告的读写能力、计算能力或人口统计学特征之间没有关系。
使用两访式沟通模式提高了对与基因组测序相关的概念的理解，特别是体细胞和种系检测之间的差异；然而，这些领域对许多参与者来说仍然令人困惑，可能需要强化才能达到完全理解。
