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

Juergen K V Reichardt,Spiros N Agathos,Marlon S Zambrano-Mila

doi:10.1186/s40246-019-0249-8

Abstract

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.

Highlights

In South America, the history of human genetics is extensive and its beginnings go back to the onset of the twentieth century
Relevant articles identified in Scopus, PubMed, Google Scholar, and Web of Science The keywords “Human Genetic Ecuador” and “Human Genomic Ecuador” in all search engines produced initially 40,506 hits
The primary bibliographic searches for both “Human genetic Ecuador” and “Human genomic Ecuador” in Google Scholar, PubMed, Scopus, and Web of Science provided 38,890; 553; 386; and 677 results, respectively (Table 1). These data sets were scrutinized based on two principles: first, their relationship to human genetics and genomics and second, articles published by authors belonging to Ecuadorian institutions

Summary

Introduction

In 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. Whereas the history of human genetics investigations in Latin America is broad, the historical record of human genomics research is more limited and recent. From the Ecuadorian standpoint in human and medical genetics, three facts are important to mention: first, the oldest scientific document about human genetics in Ecuador was the book “La genética y el hombre”. The Genomics and Genetics Network [“Red de Genética y Genómica” (ReGG)] in Ecuador was legally established in 2018

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