Genomic Counseling in the Newborn Period: Experiences and Views of Genetic Counselors

被引：9

作者：

Nardini, Monica D. ^{[1
]}

Matthews, Anne L. ^{[2
]}

McCandless, Shawn E. ^{[2
,3
]}

Baumanis, Larisa ^{[2
,4
]}

Goldenberg, Aaron J. ^{[5
,6
]}

机构：

[1] Cleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA

[2] Case Western Reserve Univ, Dept Genet & Genome Sci, Cleveland, OH 44106 USA

[3] Case Western Reserve Univ, Ctr Human Genet, Cleveland, OH 44106 USA

[4] Univ Hosp Case Med Ctr, Ctr Human Genet, Cleveland, OH USA

[5] Case Western Reserve Univ, Sch Med, Dept Bioeth, Cleveland, OH 44106 USA

[6] Case Western Reserve Univ, Ctr Genet Res Eth & Law, Cleveland, OH 44106 USA

来源：

JOURNAL OF GENETIC COUNSELING | 2014年 / 23卷 / 04期

关键词：

Genomic counseling; Newborn screening; Whole exome sequencing; Whole genome sequencing; CYSTIC-FIBROSIS;

D O I：

10.1007/s10897-014-9706-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

As newborn screening (NBS) technology expands, genetic counselors will become more involved in counseling for NBS results, including those potentially generated from whole exome sequencing (WES) and eventually whole genome sequencing (WGS). Members of the National Society of Genetic Counselors (NSGC) responded to an online survey (n = 208) regarding genomic counseling in the context of NBS. The majority of participants (82.1 %) did not feel prepared to counsel for WGS results from NBS. Counselors with previous WES/WGS counseling experience felt more prepared (p = 0.005) to counsel for WGS results from NBS than those without WES/WGS experience. Overall, counselors expressed ethical and practical concerns regarding WGS in NBS, as well as a need for additional training regarding this application of the technology before it is implemented. Based on the results of this study, genetic counselors voice caution to the larger genetics community regarding expansion of NBS to incorporate genomic sequencing and advocate for additional education prior to initiating WGS into NBS.

引用

页码：506 / 515

页数：10

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