Ophthalmic genetics in South America

Abstract

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.

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

“…It is noteworthy that next-generation sequencing (NGS)-based panels continue to be a key first-tier test worldwide, with constantly updated panels including complex regions such as RPGR- ORF15 and deep intronic areas 24 . These panel tests are currently not covered by most health insurances in Argentina, however, this study further reinforces their relevance as a standard-of-care assessment and their applicability to our region 1 .…”

“…The Latino population has diverse genetic ancestry that includes Native American, Asian, European, West African, and other minorities such as Jewish 1 . Argentina has received multiple migratory currents from Europe (mostly Spain and Italy), who also brought enslaved peoples from West Africa.…”

Genetic Testing Experiences of People Living with Inherited Retinal Degenerations: Results of a Global Survey

“…This finding may signify the lack of awareness and prioritisation of IRDs by healthcare systems in those regions. A report that was previously published recognises the insufficient training provided to medical professionals regarding genetic eye diseases, the limited availability of resources for genetic diagnosis, and the absence of coverage for GT in the public healthcare system of South American countries [22]. This calls for more efforts to improve access to genomic services in these regions, including investment in education and awareness campaigns, infrastructure, and training of healthcare professionals.…”

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

“…Two papers from Fujinami et al (2020) describe the largest series of PROM1 ‐related retinopathy and RP2 ‐related X‐linked RP in Japan, and Liu et al (2020) depict the prevalence of Stargardt‐associated pathogenic ABCA4 variants in China. Ophthalmic genetics experiences in New Zealand (Hull et al, 2020), India (Bansal et al, 2020), Brazil (Sallum et al, 2020), and Argentina, Colombia, and Chile (Daich Varela et al, 2020) outline clinical practices and molecular genetic testing algorithms in their counties. Ophthalmic genetics is further developing in the Middle East, as highlighted in a paper by Mejecase et al (2020) describing the consecutive experience of an ophthalmic genetics clinic in the United Arab Emirates, and Yaylacioglu Tuncay et al (2020) recounting their clinical practices in Turkey.…”