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The European Journal of Human Genetics is committed to equitable representation and envisions facilitation of equal access to genomic testing across diverse populations and economies. We

invited submissions on genomic testing in both healthcare and research settings in these countries that presented unique ethical, financial, cultural, data privacy and implementation

challenges in genomic testing. In this issue, we have a collection of articles that highlights the efforts to implementation of genomic testing from different parts of the world. These

include large efforts to investigate rare and undiagnosed disorders in Chile [1, 2] and Iran [3, 4] that show successful integration of next generation sequencing for monogenic disorders and

congenital anomalies in hospitals and academic institutions. Allelic data on specific disorders are scarce from developing countries that are usually highly populated. We have clinical and

molecular spectrum of orofacial clefts and microphthalmia-anophthalmia-coloboma [5], neurodevelopmental disorders [6], oculocutaneous albinism [7], spinocerebellar degeneration [8, 9] and

osteogenesis imperfecta [10]. Case reports on PRKG2-related acromesomelic dysplasia [11], dopa responsive dystonia [12], PRRT2-related infantile epilepsy [13] provide valuable additional

phenotype and genotype information on these rare disorders. An article by Gonawala et al. [14] shares the unique challenges in implementation of genetic testing in Sri Lanka. Ethical issues

and data sharing in Nicaragua are discussed by Delgado et al. [15]. Perceptions and preferences to testing for sickle cell disease in three African countries are also part of this issue

[16]. Though small, these efforts provide insights into what is currently possible in genomics in LMICs and try to address the critical gaps in our current knowledge: the phenotypic

heterogeneity, epidemiology of rare diseases, and enumeration of disease-causing variants in diverse populations. These hold relevance beyond geographies and economies for these rare and

ultra-rare diseases. A few trends can be observed in these countries. Next generation sequencing and inhouse bioinformatics pipelines are getting established. Ethical and social implications

of genomic testing is being recognised though several concerns remain, and more are emerging. We can also see the emergence of successful national and international collaborations (between

high- and low-income countries) in healthcare and research in these articles. Lastly, it is interesting to note research participation is considered an easier option to access genomic

testing (Delgado et al., Gonawala et al., and Pande et al.), an alternative model that needs rigorous improvements for delivery of genomic tests in resource-limited settings. It was an

honour to edit this special issue of the European Journal of Human Genetics on Genomic Testing in Low- and Middle-Income Countries (LMIC) and we thank the contributors, editors, reviewers,

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https://doi.org/10.1038/s41431-024-01553-7. Article  PubMed  Google Scholar  Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Medical Genetics, Kasturba

Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India Katta M. Girisha * Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University,

Muscat, Oman Katta M. Girisha * Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Biomedical Research Institute

(BMRI), Stellenbosch University Tygerberg Medical Campus, Stellenbosch, South Africa Shahida Moosa Authors * Katta M. Girisha View author publications You can also search for this author

inPubMed Google Scholar * Shahida Moosa View author publications You can also search for this author inPubMed Google Scholar CONTRIBUTIONS Both SM and KMG conceived and wrote this editorial.

CORRESPONDING AUTHOR Correspondence to Katta M. Girisha. ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no competing interests. ADDITIONAL INFORMATION PUBLISHER’S NOTE Springer

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ARTICLE Girisha, K.M., Moosa, S. Genomic testing in Low- and Middle-Income Countries (LMIC). _Eur J Hum Genet_ 32, 1193–1194 (2024). https://doi.org/10.1038/s41431-024-01622-x Download

citation * Received: 23 April 2024 * Accepted: 23 April 2024 * Published: 23 October 2024 * Issue Date: October 2024 * DOI: https://doi.org/10.1038/s41431-024-01622-x SHARE THIS ARTICLE

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