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Ophthalmic genetics in South America
Author(s) -
Daich Varela Malena,
Moya Rene,
Schlottmann Patricio G.,
Hufnagel Robert B.,
Arberas Claudia,
Fernández Federico M.,
Inga M. Eugenia,
Lores Juliana,
Pachajoa Harry,
Prada Carlos E.,
Sallum Juliana M. Ferraz
Publication year - 2020
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31832
Subject(s) - scarcity , medical genetics , public health , strengths and weaknesses , health care , diagnostic test , medicine , optometry , family medicine , geography , political science , nursing , genetics , psychology , pediatrics , biology , gene , law , economics , microeconomics , social psychology
South America comprises of heterogeneous topographies, populations, and health care systems. Therefore, it is not surprising to see differences among the countries regarding expertise, education, and practices of ophthalmic genetics for patients with rare eye diseases. Nevertheless, common challenges such as limited genetics training in medical schools and among ophthalmologists, scarcity of diagnostic tools for phenotyping, and expensive genetic testing not covered by the public healthcare systems, are seen in all of them. Here, we provide a detailed report of the current status of ophthalmic genetics, described by the personal views of local ophthalmologists from Brazil, Colombia, Argentina, and Chile. By reporting our strengths and weaknesses as a region, we intend to highlight the need for guidelines on how to manage these patients aligned with public health policies. Our region contributes to research worldwide, with thousands of well diagnosed patients from a number of unique and genetically diverse populations. The constant expansion of ophthalmic genetics and molecular diagnostics requires us to join forces to collaborate across South America and with other countries to improve access to next‐generation diagnostics and ultimately improve patient care.