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Unequal global implementation of genomic newborn screening

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.

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  1. Stark, Z. & Scott, R. H. Genomic newborn screening for rare diseases. Nat. Rev. Genet. (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 

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

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Correspondence to Ahmad N. Abou Tayoun.

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Abou Tayoun, A.N. Unequal global implementation of genomic newborn screening. Nat Rev Genet 24, 801–802 (2023).

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