Wynn Julia, Martinez Josue, Duong Jimmy, Zhang Yuan, Phelan Jo, Fyer Abby, Klitzman Robert, Appelbaum Paul S, Chung Wendy K
Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Ave., Russ Berrie Pavilion, 6th Fl, Rm 620, New York, NY, 10032, USA.
Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, USA.
J Genet Couns. 2015 Oct;24(5):833-41. doi: 10.1007/s10897-014-9817-1. Epub 2015 Jan 17.
Whole exome/ genome sequencing (WES/WGS) is now commonly used in research and is increasingly used in clinical care to identify the genetic basis of rare and unknown diseases. The management of incidental findings (IFs) generated through these analyses is debated within the research community. To examine how views regarding genomic research IFs are associated with researcher characteristics and experiences, we surveyed genetic professionals and assessed the effect of professional background and experience on their opinions. Researchers who did not have clinical training, provide clinical care to research participants, or have prior experience returning research results were in general more inclined to offer return of IFs than their colleagues with these characteristics. Understanding this will be important to fully appreciate the impact that policies on return of genetic IFs could have on participants, researchers, and genomic research.
全外显子组/基因组测序(WES/WGS)目前在研究中被广泛使用,并且在临床医疗中越来越多地用于识别罕见和不明疾病的遗传基础。研究界对通过这些分析产生的偶发发现(IFs)的管理存在争议。为了研究关于基因组研究偶发发现的观点如何与研究人员的特征和经历相关联,我们对遗传学专业人员进行了调查,并评估了专业背景和经历对他们观点的影响。没有临床培训、未为研究参与者提供临床护理或没有返回研究结果经验的研究人员,总体上比具有这些特征的同事更倾向于提供偶发发现的返回。了解这一点对于充分认识遗传偶发发现返回政策可能对参与者、研究人员和基因组研究产生的影响至关重要。
Database (Oxford). 2022-7-2
Genet Med. 2013-10-24
Genet Med. 2013-8
J Genet Couns. 2014-8