Porter Kathryn M, Kauffman Tia L, Koenig Barbara A, Lewis Katie L, Rehm Heidi L, Richards Carolyn Sue, Strande Natasha T, Tabor Holly K, Wolf Susan M, Yang Yaping, Amendola Laura M, Azzariti Danielle R, Berg Jonathan S, Bergstrom Katie, Biesecker Leslie G, Biswas Sawona, Bowling Kevin M, Chung Wendy K, Clayton Ellen W, Conlin Laura K, Cooper Gregory M, Dulik Matthew C, Garraway Levi A, Ghazani Arezou A, Green Robert C, Hiatt Susan M, Jamal Seema M, Jarvik Gail P, Goddard Katrina A B, Wilfond Benjamin S
Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington.
Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon.
Mol Genet Genomic Med. 2018 Nov;6(6):898-909. doi: 10.1002/mgg3.453. Epub 2018 Aug 21.
Clinical genome and exome sequencing (CGES) is primarily used to address specific clinical concerns by detecting risk of future disease, clarifying diagnosis, or directing treatment. Additionally, CGES makes possible the disclosure of autosomal recessive and X-linked carrier results as additional secondary findings, and research about the impact of carrier results disclosure in this context is needed.
Representatives from 11 projects in the clinical sequencing exploratory research (CSER) consortium collected data from their projects using a structured survey. The survey focused on project characteristics, which variants were offered and/or disclosed to participants as carrier results, methods for carrier results disclosure, and project-specific outcomes. We recorded quantitative responses and report descriptive statistics with the aim of describing the variability in approaches to disclosing carrier results in translational genomics research projects.
The proportion of participants with carrier results was related to the number of genes included, ranging from 3% (three genes) to 92% (4,600 genes). Between one and seven results were disclosed to those participants who received any positive result. Most projects offered participants choices about whether to receive some or all of the carrier results. There were a range of approaches to communicate results, and many projects used separate approaches for disclosing positive and negative results.
Future translational genomics research projects will need to make decisions regarding whether and how to disclose carrier results. The CSER consortium experience identifies approaches that balance potential participant interest while limiting impact on project resources.
临床基因组和外显子组测序（CGES）主要用于通过检测未来疾病风险、明确诊断或指导治疗来解决特定临床问题。此外，CGES还能够将常染色体隐性和X连锁携带者结果作为额外的次要发现进行披露，因此需要对这种情况下携带者结果披露的影响进行研究。
临床测序探索性研究（CSER）联盟11个项目的代表使用结构化调查问卷从各自项目中收集数据。该调查聚焦于项目特征、作为携带者结果向参与者提供和/或披露的变异、携带者结果披露方法以及项目特定结果。我们记录了定量回答并报告描述性统计数据，目的是描述转化基因组学研究项目中携带者结果披露方法的差异。
有携带者结果的参与者比例与所包含的基因数量有关，范围从3%（三个基因）到92%（4600个基因）。向那些得到任何阳性结果的参与者披露了一到七个结果。大多数项目为参与者提供了是否接收部分或全部携带者结果的选择。传达结果有一系列方法，许多项目在披露阳性和阴性结果时采用了不同的方法。
未来的转化基因组学研究项目将需要就是否以及如何披露携带者结果做出决策。CSER联盟的经验确定了在平衡潜在参与者兴趣的同时限制对项目资源影响的方法。
