Northwestern University, Feinberg School of Medicine, Chicago, IL, USA.
Columbia University Irving Medical Center, New York, NY, USA.
Genet Med. 2020 Nov;22(11):1821-1829. doi: 10.1038/s41436-020-0905-3. Epub 2020 Jul 16.
Secondary findings are typically offered in an all or none fashion when sequencing is used for clinical purposes. This study aims to describe the process of offering categorical and granular choices for results in a large research consortium.
Within the third phase of the electronic MEdical Records and GEnomics (eMERGE) Network, several sites implemented studies that allowed participants to choose the type of results they wanted to receive from a multigene sequencing panel. Sites were surveyed to capture the details of the implementation protocols and results of these choices.
Across the ten eMERGE sites, 4664 participants including adolescents and adults were offered some type of choice. Categories of choices offered and methods for selecting categories varied. Most participants (94.5%) chose to learn all genetic results, while 5.5% chose subsets of results. Several sites allowed participants to change their choices at various time points, and 0.5% of participants made changes.
Offering choices that include learning some results is important and should be a dynamic process to allow for changes in scientific knowledge, participant age group, and individual preference.
当测序用于临床目的时，通常以全有或全无的方式提供次要发现。本研究旨在描述在大型研究联盟中为结果提供分类和粒度选择的过程。
在电子病历和基因组学 (eMERGE) 网络的第三阶段，几个站点实施了研究，允许参与者从多基因测序面板中选择他们想要接收的结果类型。对站点进行了调查，以获取实施协议的详细信息和这些选择的结果。
在十个 eMERGE 站点中，包括青少年和成年人在内的 4664 名参与者提供了某种类型的选择。提供的选择类别和选择类别的方法有所不同。大多数参与者（94.5%）选择了解所有遗传结果，而 5.5%选择了部分结果。一些站点允许参与者在不同的时间点更改他们的选择，有 0.5%的参与者进行了更改。
提供包括了解部分结果的选择很重要，并且应该是一个动态的过程，以允许科学知识、参与者年龄组和个人偏好的变化。
