Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
University of Buenos Aires, Buenos Aires, Argentina.
Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):753-761. doi: 10.1002/ajmg.c.31832. Epub 2020 Aug 28.
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.
南美洲的地形、人口和医疗保健系统各不相同。因此，在眼科遗传专业知识、教育和实践方面，各国之间存在差异并不奇怪。然而，所有国家都面临着共同的挑战，如医学院和眼科医生的遗传培训有限、表型诊断工具稀缺，以及公共医疗保健系统不涵盖昂贵的基因检测。在这里，我们提供了来自巴西、哥伦比亚、阿根廷和智利的当地眼科医生的个人观点，详细报告了眼科遗传学的现状。通过报告我们作为一个地区的优势和劣势，我们旨在强调需要制定与公共卫生政策一致的管理这些患者的指南。我们的地区为全球研究做出了贡献，拥有来自多个独特和遗传多样化人群的数千名诊断明确的患者。眼科遗传学和分子诊断学的不断扩展要求我们联合起来，在南美洲内部以及与其他国家合作，以改善获得下一代诊断的机会，最终改善患者的护理。
