Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New “Fast-Second Winner” Strategy

Mitropoulos, Konstantinos; Cooper, David Neil; Mitropoulou, Christina; Agathos, Spiros N.; Reichardt, Juergen K.V.; Al-Maskari, Fatma; Chantratita, Wasun; Wonkam, Ambroise; Dandara, Collet; Κάτσιλα, Θεοδώρα; Lopez-Correa, Catalina; Ali, Bassam R.; Patrinos, George P.

doi:10.1089/omi.2017.0141

Cited by 31 publications

(23 citation statements)

References 52 publications

(53 reference statements)

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“…Therefore, there is an urgent need for African institutions to train genetic counselors who must be equipped with the current knowledge of available SCD management options. Currently, the use of genomics in the clinical setting in Africa is dominated by the genotyping of genes with the aim of elucidating genetic etiologies for disorders such as SCD and Downs syndrome (Kromberg et al, ; Mitropoulos et al, ) but this service is still largely unavailable in many healthcare settings in Africa (Munung et al, ). Furthermore, complex diseases are becoming more prevalent in Africa, due to environmental risk factors that are associated with increasing urban and more sedentary lifestyles (Tishkoff & Williams, ).…”

Section: Resultsmentioning

confidence: 99%

Role of genomics literacy in reducing the burden of common genetic diseases in Africa

Mboowa

Sserwadda

2019

Molec Gen & Gen Med

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Background In Africa, health practitioners and the current knowledge of the public on genetics and genomics is still very low and yet this has potential to reduce the burden of common genetic diseases. Many initiatives have promoted genomic research, infrastructure, and capacity building in Africa. What remains to be done is to improve genomics literacy among populations and communities while utilizing an array of strategies. Genomic literacy and awareness are key in the management of genetic diseases which includes diagnosis, prevention of complications and therapy. Africa is characterized by great cultural and language diversity thereby requiring a multidisciplinary approach to improving public and community genomics literacy and engagement. However, this is further complicated by having the fact that sub‐Saharan Africa is comprised of countries with the lowest literacy rates in the world. Methods We applied the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses guidelines to review genomic literacy in Africa using PubMed database. Results We found very limited evidence of genomics literacy for genetic diseases in Africa. Conclusion We propose a number of approaches that if adopted will significantly increase the genomic literacy and reduce the burden of genetic diseases in Africa.

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Section: Resultsmentioning

confidence: 99%

Role of genomics literacy in reducing the burden of common genetic diseases in Africa

Mboowa

Sserwadda

2019

Molec Gen & Gen Med

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“…In Latin America, the development of these fields faces many challenges such as the lack of available clinical laboratories and trained personnel, the low investment in research, and ethical aspects [17, 26]. In spite of these adverse circumstances, these areas have shown expanding trends in health and medical sciences so both efforts and resources should be committed to the development of these fields to guarantee the success of drug development and therapeutics for the Ecuadorian population [27, 28].…”

Section: Resultsmentioning

confidence: 99%

Human genetics and genomics research in Ecuador: historical survey, current state, and future directions

2019

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BackgroundIn South America, the history of human genetics is extensive and its beginnings go back to the onset of the twentieth century. In Ecuador, the historical record of human genetics and genomics research is limited. In this context, our work analyzes the current status and historical panorama of these fields, based on bibliographic searches in Scopus, Google Scholar, PubMed, and Web of Science.ResultsOur results determined that the oldest paper in human genetics coauthored by an Ecuadorian institution originates from the Central University of Ecuador in 1978. From a historical standpoint, the number of articles has increased since the 1990s. This growth has intensified and it is reflected in 137 manuscripts recorded from 2010 to 2019. Areas such as human population genetics, phylogeography, and forensic sciences are the core of genetics and genomics-associated research in Ecuador. Important advances have been made in the understanding of the bases of cancer, some genetic diseases, and congenital disorders. Fields such as pharmacogenetics and pharmacogenomics have begun to be explored during the last years.ConclusionsThis work paints a comprehensive picture and provides additional insights into the future panorama of human genetic and genomic research in Ecuador as an example of an emerging, resource-limited country with interesting phylogeographic characteristics and public health implications.

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“…Yet, costs, logistics, and knowledge about specific variants occurring in these countries are challenges to be addressed. The potential for implementation of pharmacogenetics in developing countries is reflected upon in several publications (Mitropoulos et al, 2011;Roederer et al, 2011;Mizzi et al, 2016;Mitropoulos et al, 2017).…”

Section: Cost Effectiveness Of Pharmacogenetic Testingmentioning

confidence: 99%

Pharmacogenetics in Psychiatry: An Update on Clinical Usability

et al. 2020

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Using pharmacogenetics in guiding drug therapy experiences a steady increase in uptake, although still leads to discussions as to its clinical use. Psychiatry constitutes a field where pharmacogenomic testing might help in guiding drug therapy. To address current challenges, this minireview provides an update regarding genotyping (SNP analysis/ arrays/NGS), structural variant detection (star-alleles/CNVs/hybrid alleles), genotype-tophenotype translations, cost-effectiveness, and actionability of results (FDA/CPIC/ PharmGKB) regarding clinical importance of pre-emptive pharmacogenomic testing for prescription of antidepressants and antipsychotics.

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Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New “Fast-Second Winner” Strategy

Abstract: . 2017. Genomic medicine without borders: which strategies should developing countries employ to invest in precision medicine? A new "fast-second winner" strategy.

Cited by 31 publications

References 52 publications

Role of genomics literacy in reducing the burden of common genetic diseases in Africa

Role of genomics literacy in reducing the burden of common genetic diseases in Africa

Human genetics and genomics research in Ecuador: historical survey, current state, and future directions

Pharmacogenetics in Psychiatry: An Update on Clinical Usability

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