Two weeks ago, the American College of Medical Genetics and Genomics(ACMG) published a paper that recommends a Whole-Exome Sequencing (WES) or Whole-Genome Sequencing (WGS) as a first- (or second-) line test in patients with congenital anomalies, developmental delay, and intellectual disability because of a higher diagnostic yield and being more cost-effective when ordered early in the diagnostic evaluation.1

The newly published recommendation falls in line with the results of the systematic evidence-based review for the use and outcomes from WES and WGS for pediatric patients with congenital anomalies initiated in 2017 by the ACMG. Together, they manifest the value of these approaches to provide results on which to build improved care management of patients and put an end to the diagnostic odyssey sometimes faced by the patients and their families.

The extension of the frame of the region that is being looked at, from only a couple of genes to exome or even genome, allows professionals to have greater power for depicting variants responsible for specific disorders. As a result, WES or WGS approach has revealed a broader spectrum of developmental disabilities-associated genetic variants leading to improved patient outcomes, and resulting in changes for clinical genetics practice and medicine in its entirety.

For more information on Rare Disorders, see the article by Luca Trotta, our Chief Scientific Officer.

The growing application of DNA sequencing, aside from the expected benefits for patients, challenges today and in the future genomic data handling organizations, laboratories even the entire healthcare system in terms of analysis technology, cost-efficient storage, and how to deal with this massive amount of data.

The great potential of genomics and the associated limits are drive all of us at GenomSys to support the professionals working in the routine genetic diagnostic, providing the right tools to deliver excellent work every day and ultimately helping patients all across the globe.

GenomSys solutions are developed on the promise to increase efficiency in genomic analysis and hence accelerate the arrival of personalized medicine. In particular, GenomSys Variant Analyzer was designed to provide all the instruments to analyze exomes, from the raw data to the report generation. The combination of state-of-the-art bioinformatics, powerful filtering tools, and an intuitive user interface allows the professional to do their job – analyzing the DNA sequence – and not being hindered by technological delay. The time for the next era in genomic analysis is now.

1 Manickam, K., McClain, M.R., Demmer, L.A. et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med (2021). https://doi.org/10.1038/s41436-021-01242-6

By Lucas Laner

Picture: David Mark / pixabay

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