Oberg Jennifer A, Glade Bender Julia L, Cohn Elizabeth G, Morris Marilyn, Ruiz Jenny, Chung Wendy K, Appelbaum Paul S, Kung Andrew L, Levine Jennifer M
Department of Pediatrics, Division of Hematology, Oncology, Stem Cell Transplantation, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
School of Nursing, Division of Academics, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
Pediatr Blood Cancer. 2015 Aug;62(8):1374-80. doi: 10.1002/pbc.25520. Epub 2015 Apr 1.
Introducing whole genome sequencing (WGS) into pediatric cancer research at diagnosis poses unique challenges related to informed consent. WGS requires tissue obtained prior to initiating treatment, when families may be overwhelmed with uncertainty and fear. Motivation to participate may be high without fully understanding the range of possible results, including secondary findings. Little is known about parental knowledge, attitudes, and beliefs about this type of research.
A qualitative study was conducted to investigate parental knowledge about genetic concepts and WGS, thoughts about the informed consent process, and preferences for secondary findings. Focus groups were conducted with parents/guardians of children with cancer and semi-structured interviews were conducted in a control group without cancer. All transcripts were analyzed using content analysis.
Four focus groups included 15 participants; eight semi-structured interviews included 10 participants. Basic knowledge about genetics was limited to heredity. Some knowledge of genomic analysis was present in 3/15 focus group participants. Major factors related to participation in WGS research were: (i) hope for their child and future children; (ii) no additional procedures; (iii) and protection of privacy. All favored a two-step consent process, first to store extra tissue from a diagnostic biopsy/resection, followed by consenting to WGS research, one-to-two months later. The desire to receive secondary findings was high among both groups, but there were individuals who did not want these results, fearing increased anxiety.
Parents/guardians of children with cancer have limited knowledge about WGS. A two-step consent process may improve their ability to provide meaningful informed consent.
在儿科癌症诊断研究中引入全基因组测序（WGS）带来了与知情同意相关的独特挑战。WGS需要在开始治疗前获取组织样本，而此时家庭可能因不确定性和恐惧而不堪重负。在没有充分理解包括次要发现在内的可能结果范围的情况下，参与的积极性可能很高。关于父母对这类研究的知识、态度和信念知之甚少。
进行了一项定性研究，以调查父母对遗传概念和WGS的了解、对知情同意过程的看法以及对次要发现的偏好。对癌症患儿的父母/监护人进行了焦点小组访谈，并对无癌症的对照组进行了半结构化访谈。所有访谈记录均采用内容分析法进行分析。
四个焦点小组包括15名参与者；八个半结构化访谈包括10名参与者。关于遗传学的基本知识仅限于遗传。15名焦点小组参与者中有3人对基因组分析有一定了解。参与WGS研究的主要因素包括：（i）对自己孩子和未来孩子的希望；（ii）无需额外程序；（iii）隐私保护。所有人都赞成分两步进行同意程序，首先是存储诊断性活检/切除的多余组织，然后在一到两个月后同意进行WGS研究。两组中对接收次要发现的意愿都很高，但也有一些人不想要这些结果，担心会增加焦虑。
癌症患儿的父母/监护人对WGS的了解有限。分两步进行的同意程序可能会提高他们提供有意义的知情同意的能力。
