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A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates

Nature Medicine volume 29, pages 2979–2980 (2023)Cite this article

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A large body of evidence now supports use of rapid whole-genome sequencing (rWGS) as a cost-effective tool for timely diagnosis and tailored management of critically ill children with rare diseases. However, efficacy has so far been demonstrated only in high-income settings, which has led to disparate implementation of and variable access to rWGS.

Lunke et al. recently demonstrated the clinical utility of rWGS in critically ill children with rare diseases in Australia, with a diagnostic yield of 47%, which rose to 54% after further analysis, and resulted in a change in critical care management for 77% of diagnosed patients1. Similar studies, mainly in North America and Europe, and one in China, also support the feasibility, as well as diagnostic, clinical and economic utility2,3,4,5, of rWGS. These results have informed policy and practice and led to the implementation of rWGS in several healthcare systems with public and private funding support in a growing number of states in the USA and in the UK6.

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Acknowledgements

The Little Falcon study is co-sponsored by Al Jalila Children’s Specialty Hospital, Dubai, UAE, and Illumina, San Diego, CA, USA.

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Authors and Affiliations

  1. Genomics Center of Excellence, Al Jalila Children’s Specialty Hospital, Dubai, United Arab Emirates

    Ahmad N. Abou Tayoun

  2. Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates

    Ahmad N. Abou Tayoun

  3. Dubai Academic Health Corporation, Dubai, United Arab Emirates

    Ahmad N. Abou Tayoun & Alawi Alsheikh-Ali

  4. Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates

    Alawi Alsheikh-Ali

Authors
  1. Ahmad N. Abou Tayoun
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  2. Alawi Alsheikh-Ali
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Correspondence to Ahmad N. Abou Tayoun.

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Competing interests

The authors’ Little Falcon study receives sponsorship funding from Illumina.

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Abou Tayoun, A.N., Alsheikh-Ali, A. A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates. Nat Med 29, 2979–2980 (2023). https://doi.org/10.1038/s41591-023-02596-x

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