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Literature DB >> 24659383

Genomic counseling in the newborn period: experiences and views of genetic counselors.

Monica D Nardini¹, Anne L Matthews, Shawn E McCandless, Larisa Baumanis, Aaron J Goldenberg.

Abstract

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.

Entities: Disease Species

Mesh：

Year: 2014 PMID： 24659383 DOI： 10.1007/s10897-014-9706-7

Source DB: PubMed Journal: J Genet Couns ISSN： 1059-7700 Impact factor: 2.537

14 in total

Review 1. Genetic profiling of newborns: ethical and social issues.

Authors: Brenda Almond
Journal: Nat Rev Genet Date: 2006-01 Impact factor: 53.242

2. From public health emergency to public health service: the implications of evolving criteria for newborn screening panels.

Authors: Scott D Grosse; Coleen A Boyle; Aileen Kenneson; Muin J Khoury; Benjamin S Wilfond
Journal: Pediatrics Date: 2006-03 Impact factor: 7.124

Review 3. Copy number and SNP arrays in clinical diagnostics.

Authors: Christian P Schaaf; Joanna Wiszniewska; Arthur L Beaudet
Journal: Annu Rev Genomics Hum Genet Date: 2011 Impact factor: 8.929

4. The ethical hazards and programmatic challenges of genomic newborn screening.

Authors: Aaron J Goldenberg; Richard R Sharp
Journal: JAMA Date: 2012-02-01 Impact factor: 56.272

5. Parental understanding of newborn screening for cystic fibrosis after a negative sweat-test.

Authors: Colleen Walsh Lang; Susanna A McColley; Lucille A Lester; Lainie Friedman Ross
Journal: Pediatrics Date: 2011-01-10 Impact factor: 7.124

6. Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children.

Authors: Susan Hiraki; Kelly E Ormond; Katherine Kim; Lainie Friedman Ross
Journal: Am J Med Genet A Date: 2006-11-01 Impact factor: 2.802

Review 7. Ethical issues with newborn screening in the genomics era.

Authors: Beth A Tarini; Aaron J Goldenberg
Journal: Annu Rev Genomics Hum Genet Date: 2012-05-01 Impact factor: 8.929

8. Genetic counseling and risk communication services of newborn screening programs.

Authors: M Farrell; L Certain; P Farrell
Journal: Arch Pediatr Adolesc Med Date: 2001-02

9. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

Authors: Anne Marie Comeau; Richard B Parad; Henry L Dorkin; Mark Dovey; Robert Gerstle; Kenan Haver; Allen Lapey; Brian P O'Sullivan; David A Waltz; Robert G Zwerdling; Roger B Eaton
Journal: Pediatrics Date: 2004-06 Impact factor: 7.124

10. Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety.

Authors: Beth Kladny; Andrea Williams; Ashish Gupta; Elizabeth A Gettig; Lakshmanan Krishnamurti
Journal: Genet Med Date: 2011-07 Impact factor: 8.822

4 in total

1. Genetic counselors' (GC) knowledge, awareness, understanding of clinical next-generation sequencing (NGS) genomic testing.

Authors: P M Boland; K Ruth; J M Matro; K L Rainey; C Y Fang; Y N Wong; M B Daly; M J Hall
Journal: Clin Genet Date: 2015-01-22 Impact factor: 4.438