Literature DB >> 25546530

Can we afford to sequence every newborn baby's genome?

Jacques S Beckmann1.   

Abstract

Whole-exome sequencing and whole-genome sequencing are gradually entering into the clinical arena. Drops in sequencing prices have led some to suggest that these analyses could be extended to the screening of whole populations or subsets thereof. Herein, we argue that this optimism is presently still unfounded. While cost estimates take into account the generation of sequence data, they fail to properly evaluate both the price of accurate and efficient interpretation and of the proper return of genomic information to the consulting individuals. Thus, short of inventing new, cost-effective ways of achieving these goals, the latter are likely to ruin our healthcare systems. We posit that due to lack of available resources, generalization of this practice remains, for the time being, unrealistic.
© 2014 WILEY PERIODICALS, INC.

Keywords:  NBS; WES; WGS; newborn screening; whole-exome sequencing; whole-genome sequencing

Mesh:

Year:  2015        PMID: 25546530     DOI: 10.1002/humu.22748

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  12 in total

1.  Challenges of using next generation sequencing in newborn screening.

Authors:  Eyal Reinstein
Journal:  Genet Res (Camb)       Date:  2015-11-02       Impact factor: 1.588

2.  Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.

Authors:  Patrícia Ashton-Prolla; José Roberto Goldim; Filippo Pinto E Vairo; Ursula da Silveira Matte; Jorge Sequeiros
Journal:  J Community Genet       Date:  2015-06-04

Review 3.  Newborn screening and the era of medical genomics.

Authors:  Ludmila Francescatto; Nicholas Katsanis
Journal:  Semin Perinatol       Date:  2015-10-21       Impact factor: 3.300

Review 4.  Promises, pitfalls and practicalities of prenatal whole exome sequencing.

Authors:  Sunayna Best; Karen Wou; Neeta Vora; Ignatia B Van der Veyver; Ronald Wapner; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2017-07-25       Impact factor: 3.050

5.  Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

Authors:  Ashleigh R Pavey; Dale L Bodian; Thierry Vilboux; Alina Khromykh; Natalie S Hauser; Kathi Huddleston; Elisabeth Klein; Aaron Black; Megan S Kane; Ramaswamy K Iyer; John E Niederhuber; Benjamin D Solomon
Journal:  Genet Med       Date:  2017-06-15       Impact factor: 8.822

Review 6.  Assessing the Costs and Cost-Effectiveness of Genomic Sequencing.

Authors:  Kurt D Christensen; Dmitry Dukhovny; Uwe Siebert; Robert C Green
Journal:  J Pers Med       Date:  2015-12-10

Review 7.  Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities.

Authors:  Jacques S Beckmann; Daniel Lew
Journal:  Genome Med       Date:  2016-12-19       Impact factor: 11.117

Review 8.  Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.

Authors:  Gabrielle Bertier; Martin Hétu; Yann Joly
Journal:  BMC Med Genomics       Date:  2016-08-11       Impact factor: 3.063

9.  The lifestylisation of healthcare? 'Consumer genomics' and mobile health as technologies for healthy lifestyle.

Authors:  Federica Lucivero; Barbara Prainsack
Journal:  Appl Transl Genom       Date:  2015-02-07

10.  Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Authors:  Dale L Bodian; Elisabeth Klein; Ramaswamy K Iyer; Wendy S W Wong; Prachi Kothiyal; Daniel Stauffer; Kathi C Huddleston; Amber D Gaither; Irina Remsburg; Alina Khromykh; Robin L Baker; George L Maxwell; Joseph G Vockley; John E Niederhuber; Benjamin D Solomon
Journal:  Genet Med       Date:  2015-09-03       Impact factor: 8.822

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