Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Comment
  • Published:

Overcoming barriers to equitable genomic healthcare

European Journal of Human Genetics (2024)Cite this article

Subjects

We all recognize the pivotal role of next-generation sequencing in the diagnosis and discovery of rare diseases that are majorly genetic in origin. While limited access might be the result of economic constraints in the three-fourths of the global population, it might also be due to infrastructure (genetic testing laboratories) or trained manpower (genome analysts) in other situations. In this issue, Cecilia Poli and colleagues address how limited genomic resources for rare disease diagnosis can be overcome [1]. Facility for high throughput next-generation sequencing and genome analysts were scarce in Chile. The local team (Universidad del Desarrollo [UDD]), collaborated with Baylor College of Medicine (BCM) for the analysis of exome data and established a rare disease program DEcoding Complex Inherited PHenotypes of Rare Diseases (‘DECIPHERD’) for Chile.

In the first phase (training), an international collaboration was initiated by the local team (UDD) with the Baylor College of Medicine in the USA, which imparted training to the UDD scientific team. In the second phase (local development), clinical evaluation and variant data analysis were performed locally. The sequencing was outsourced in both phases, however.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. Cecilia Poli M, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, et al. Decoding complex inherited phenotypes in rare disorders: The DECIPHERD initiative for rare 2 undiagnosed diseases in Chile. Eur J Hum Genet. 2024. https://doi.org/10.1038/s41431-023-01523-5.

    Article  PubMed  Google Scholar 

  2. United Nations Group for Sustainable Development Goals. Leaving No One Behind: Equality 507 and Non-Discrimination at the Heart of Sustainable Development. 2017. https://unsceb.org/sites/default/files/imported_files/CEB%20equality%20framework-A4-web-rev3_0.pdf, accessed 28 January 2024.

  3. Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal, and social issues: a report of the WHO Science Council. 2022. https://www.who.int/publications/i/item/9789240052857, accessed 28 January 2024.

Download references

Funding

No financial assistance was received in support of the study.

Author information

Authors and Affiliations

  1. Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman

    Katta M. Girisha

Authors
  1. Katta M. Girisha
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

KMG wrote this commentary to accompany an article in this issue.

Corresponding author

Correspondence to Katta M. Girisha.

Ethics declarations

Competing interests

The author declares no competing interests.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Girisha, K.M. Overcoming barriers to equitable genomic healthcare. Eur J Hum Genet (2024). https://doi.org/10.1038/s41431-024-01557-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1038/s41431-024-01557-3

Search

Advanced search

Quick links