The Landscape of BRCA1/2 Testing in Latin American Countries

In Latin American countries, the status of sequencing technology for BRCA1/2 testing has been under examination, aiming to bridge the knowledge gap in this region compared to other parts of the world. Laboratories in Latin America were surveyed to understand the protocols and technologies employed in BRCA1/2 testing. While the initial study had limited representation from Latin America, efforts were made to engage more laboratories in the region to provide a comprehensive overview.

The study revealed that most laboratories in Latin America conducting BRCA1/2 testing utilized next-generation sequencing platforms, with one exception using Sanger sequencing. These labs focused on sequencing coding regions of BRCA1/2, although the extent of interrogated intronic regions varied. Notably, panel testing was common among these labs, with varying approaches to deletion/duplication analyses. Quality control measures were stringent, with a focus on confirming pathogenic variants and employing variant classification guidelines, often based on the American College of Medical Genetics standards.

Interestingly, laboratories in Latin America reported a wide range in the number of samples tested, with an average turnaround time of 35 days for results. While the study faced limitations due to incomplete representation from all Latin American countries and potential changes in testing practices post-2016, it highlighted the advancements in genetic and genomic medicine in the region. Collaborative efforts and support from various academic centers have contributed to the enhancement of BRCA1/2 testing capabilities in Latin America.

Key Takeaways:
– Latin American laboratories predominantly use next-generation sequencing for BRCA1/2 testing, with a focus on coding regions and panel testing.
– Stringent quality control measures include confirming pathogenic variants and adhering to variant classification guidelines.
– The region has witnessed progress in genetic and genomic medicine, evident in the increasing number of samples tested and the adoption of advanced technologies.
– Collaboration among academic centers and grant support have been instrumental in advancing BRCA1/2 testing capabilities in Latin America.