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.

Unequal global implementation of genomic newborn screening

Nature Reviews Genetics (2023)Cite this article

Subjects

Studies of genomic newborn screening are highly skewed towards populations in high-income countries. The evidence generated by these studies will be similarly biased and is likely to lead to disparate global implementation. Studies inclusive of historically under-represented populations are needed for equitable global access to genomic newborn screening.

Genomic newborn screening can identify newborns at risk of a larger number of treatable early-onset conditions than are identified by other screening methods. But it is also associated with many challenges, including the need for complex infrastructure and a lack of data to inform implementation1. Several ongoing pilot studies are generating evidence that supports the benefits, and highlights the limitations, of genomic newborn screening for rare diseases. These studies, which use mainly whole-genome sequencing to screen thousands of newborns for hundreds of rare conditions, are limited to high-income countries, mainly in North America, Europe and Australia1. The outcomes of such studies will not provide representative evidence for universal and equitable implementation of this approach, a limitation that will eventually lead to disparate access to early diagnosis and treatment, especially for patients from under-represented populations in low- and middle-income countries.

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

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Learn more

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

References

  1. Stark, Z. & Scott, R. H. Genomic newborn screening for rare diseases. Nat. Rev. Genet. https://doi.org/10.1038/s41576-023-00621-w (2023).

    Article  PubMed  Google Scholar 

  2. Zheng, B. & Cao, L. Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients. Pediatr. Pulmonol. 52, E11–E14 (2017).

    Article  PubMed  Google Scholar 

  3. Jordan, E. et al. Genetic architecture of dilated cardiomyopathy in individuals of African and European ancestry. J. Am. Med. Assoc. 330, 432–441 (2023).

    Article  CAS  Google Scholar 

  4. Manrai, A. K. et al. Genetic misdiagnoses and the potential for health disparities. N. Engl. J. Med. 375, 655–665 (2016).

    Article  PubMed  PubMed Central  Google Scholar 

  5. Kingdom, R. & Wright, C. F. Incomplete penetrance and variable expressivity: from clinical studies to population cohorts. Front. Genet. 13, 920390 (2022).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Fahed, A. C. et al. Polygenic background modified penetrance of monogenic variants for tier 1 genomic conditions. Nat. Commun. 11, 3635 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Kuchenbaecker, K. B. et al. Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers. J. Natl Cancer. Inst. 109, djw302 (2017).

    Article  PubMed  PubMed Central  Google Scholar 

  8. Chen, R. et al. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nat. Biotechnol. 34, 531–538 (2016).

    Article  CAS  PubMed  Google Scholar 

  9. Easteal, S. et al. Equitable expanded carrier screening needs indigenous clinical and population genomic data. Am. J. Hum. Genet. 107, 175–182 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Abou Tayoun, A. N. & Rehm, H. L. Genetic variation in the Middle East – an opportunity to advance the human genetic field. Genome Med. 12, 116 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

The spinal muscular atrophy pilot study is being supported by an unrestricted medical grant from Novartis/AveXis.

Author information

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

Authors
  1. Ahmad N. Abou Tayoun
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ahmad N. Abou Tayoun.

Ethics declarations

Competing interests

The author declares no competing interests.

Rights and permissions

Reprints and Permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Abou Tayoun, A.N. Unequal global implementation of genomic newborn screening. Nat Rev Genet (2023). https://doi.org/10.1038/s41576-023-00654-1

Download citation

  • Published:

  • DOI: https://doi.org/10.1038/s41576-023-00654-1

Search

Advanced search

Quick links

Nature Briefing: Translational Research

Sign up for the Nature Briefing: Translational Research newsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research