Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies.
Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies.
复制标题
对于面临无法解释的胎儿异常的准家庭来说，相信产前外显子组测序。
DOI：
10.1002/pd.6507
复制
发表时间：
2024
影响因子：
3
通讯作者：
Sparks,TeresaN
中科院分区：
文献类型：
--
作者：
Rothschild,HarrietT;Lianoglou,BillieR;SahinHodoglugil,NuriyeN;Tick,Katie;Brown,JuliaEH;Sparks,TeresaN
尽管外显子组测序（ES）越来越多地被纳入产前环境，但很少有研究阐明了在不同的患者及其伴侣中对ES和基因组研究的动机和信任。方法：这是一项定性研究，在胚胎结构异常的研究中，对怀孕或刚怀孕的个体及其伴侣进行了半结构化访谈。所有访谈笔录均按主题编码，并由多学科团队开发。结果35人参与，其中大多数（66%）自认为是基因组研究中代表性不足的种族或族裔群体。许多患者及其伴侣对医疗保健系统和研究过程表示信任，并赞赏为获得信息和结束而进行的广泛测试。尽管如此，对参与基因组测试和研究的个人（包括那些代表性不足的人）的数据隐私和保护仍存在担忧。结论：我们的研究结果说明了在研究环境中进行产前ES相关的动机、信任和关注的重要因素，不仅考虑了多样化和代表性不足的研究参与者的观点，还考虑了怀孕个体的伴侣的观点。
ObjectiveDespite exome sequencing (ES) becoming increasingly incorporated into the prenatal setting, few studies have elucidated motivations for and trust in ES and genomic research among a diverse cohort of patients and their partners.MethodsThis is a qualitative study that involved semi‐structured interviews with pregnant or recently pregnant individuals and their partners, interviewed separately, in the setting of ES performed through research for a fetal structural anomaly. All interview transcripts were coded thematically and developed by a multidisciplinary team.ResultsThirty‐five individuals participated, the majority of whom (66%) self‐identified as a racial or ethnic group underrepresented in genomic research. Many patients and their partners expressed trust in the healthcare system and research process and appreciated the extensive testing for information and closure. There were nonetheless concerns about data privacy and protection for individuals, including those underrepresented, who participated in genomic testing and studies.ConclusionOur findings illustrate important elements of motivation, trust and concern related to prenatal ES performed in the research setting, taking into account the perspectives not only of diverse and underrepresented study participants but also partners of pregnant individuals.
登录
查看更多内容
DOI：
10.1056/nejmsr1809937
发表时间：
2019-08-15
期刊：
The New England journal of medicine
影响因子：
--
作者：
All of Us Research Program Investigators;Denny JC;Rutter JL;Goldstein DB;Philippakis A;Smoller JW;Jenkins G;Dishman E
通讯作者：
Dishman E
DOI：
10.1159/000099083
发表时间：
2007-01-01
期刊：
COMMUNITY GENETICS
影响因子：
--
作者：
Treloar, Susan A.;Morley, Katherine I.;Hall, Wayne D.
通讯作者：
Hall, Wayne D.
DOI：
10.1056/nejmoa2023643
发表时间：
2020-10-29
期刊：
The New England journal of medicine
影响因子：
--
作者：
Sparks TN;Lianoglou BR;Adami RR;Pluym ID;Holliman K;Duffy J;Downum SL;Patel S;Faubel A;Boe NM;Field NT;Murphy A;Laurent LC;Jolley J;Uy C;Slavotinek AM;Devine P;Hodoglugil U;Van Ziffle J;Sanders SJ;MacKenzie TC;Norton ME;University of California Fetal–Maternal Consortium;University of California, San Francisco Center for Maternal–Fetal Precision Medicine
通讯作者：
University of California, San Francisco Center for Maternal–Fetal Precision Medicine
母胎医学协会 (SMFM) 特别声明：母胎医学研究中的种族：消除神话并采取准确的反种族主义方法。
影响因子：
9.8
作者：
S. Wheeler;A. Bryant;E. Bonney;E. Howell
通讯作者：
E. Howell
边缘化种族和民族群体以及土著人民心血管遗传学和基因组研究的考虑因素：美国心脏协会的科学声明。
DOI：
10.1161/hcg.0000000000000084
发表时间：
2021
期刊：
Circulation. Genomic and precision medicine
影响因子：
--
作者：
G. Mudd;Allison L. Cirino;Veronica Barcelona;Keolu Fox;M. Hudson;Yan V. Sun;Jacquelyn Y. Taylor;V. Cameron
通讯作者：
V. Cameron