Ophthalmic genetics in South America.
South America
development
genetics
ophthalmic genetics
ophthalmology
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
19
06
2020
revised:
14
07
2020
accepted:
28
07
2020
pubmed:
29
8
2020
medline:
3
6
2021
entrez:
29
8
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32856789
doi: 10.1002/ajmg.c.31832
pmc: PMC8808369
mid: NIHMS1693461
doi:
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
753-761Subventions
Organisme : Intramural NIH HHS
ID : Z99 EY999999
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA EY000564
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals LLC.
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