作者
Marci LB Schwartz, Cara Zayac McCormick, Amanda L Lazzeri, M Lindbuchler D’Andra, Miranda LG Hallquist, Kandamurugu Manickam, Adam H Buchanan, Alanna Kulchak Rahm, Monica A Giovanni, Lauren Frisbie, Carroll N Flansburg, F Daniel Davis, Amy C Sturm, Christine Nicastro, Matthew S Lebo, Heather Mason-Suares, Lisa Marie Mahanta, David J Carey, Janet L Williams, Marc S Williams, David H Ledbetter, W Andrew Faucett, Michael F Murray
发表日期
2018/9/6
期刊
The American Journal of Human Genetics
卷号
103
期号
3
页码范围
328-337
出版商
Elsevier
简介
There is growing interest in communicating clinically relevant DNA sequence findings to research participants who join projects with a primary research goal other than the clinical return of such results. Since Geisinger's MyCode Community Health Initiative (MyCode) was launched in 2007, more than 200,000 participants have been broadly consented for discovery research. In 2013 the MyCode consent was amended to include a secondary analysis of research genomic sequences that allows for delivery of clinical results. Since May 2015, pathogenic and likely pathogenic variants from a set list of genes associated with monogenic conditions have prompted "genome-first" clinical encounters. The encounters are described as genome-first because they are identified independent of any clinical parameters. This article (1) details our process for generating clinical results from research data, delivering results to …
学术搜索中的文章
MLB Schwartz, CZ McCormick, AL Lazzeri, ML D'Andra… - The American Journal of Human Genetics, 2018
MLB Schwartz, CZ McCormick, AL Lazzeri… - bioRxiv, 2017