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A new interesting article has been published in J Med Genet. 2019 Dec; 56(12):783-791. doi: 10.1136/jmedgenet-2019-106111. Epub 2019 Apr 25. Review and titled:

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.

Authors of this article are:

Bick D, Jones M, Taylor SL, Taft RJ, Belmont J.

A summary of the article is shown below:

Up to 350 million people worldwide suffer from a rare disease, and while the individual diseases are rare, in aggregate they represent a substantial challenge to global health systems. The majority of rare disorders are genetic in origin, with children under the age of five disproportionately affected. As these conditions are difficult to identify clinically, genetic and genomic testing have become the backbone of diagnostic testing in this population. In the last 10 years, next-generation sequencing technologies have enabled testing of multiple disease genes simultaneously, ranging from targeted gene panels to exome sequencing (ES) and genome sequencing (GS). GS is quickly becoming a practical first-tier test, as cost decreases and performance improves. A growing number of studies demonstrate that GS can detect an unparalleled range of pathogenic abnormalities in a single laboratory workflow. GS has the potential to deliver unbiased, rapid and accurate molecular diagnoses to patients across diverse clinical indications and complex presentations. In this paper, we discuss clinical indications for testing and historical testing paradigms. Evidence supporting GS as a diagnostic tool is supported by superior genomic coverage, types of pathogenic variants detected, simpler laboratory workflow enabling shorter turnaround times, diagnostic and reanalysis yield, and impact on healthcare.© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Check out the article’s website on Pubmed for more information:

This article is a good source of information and a good way to become familiar with topics such as: clinical genome sequencing; genetic testing; neonates; pediatric; rare and undiagnosed.

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