Playing catching up: Proceedings of the 1st Spanish conference on genomic medicine.

Abstract

On May 23-24, 2024, the 1^st Spanish Conference on Genomic Medicine convened in Madrid, Spain. An international and multidisciplinary group of experts gathered to discuss the current state and prospects of genomic medicine in the Spanish-speaking world. There were 278 attendees from Latin America, US, UK, Germany, and Spain, and the topics covered included rare diseases, genome medicine in national health systems (NHSs), artificial intelligence, and commercial development ventures. One particular area of attention was our still sketchy understanding of genome variants. This is evidenced by the fact that many diagnoses in rare diseases continue to yield odysseys that take years, with up to 50% of cases that may go undiagnosed. Since a lot of the genome remains to poorly understood, as new technologies such as long read sequencing become more ubiquitous and cheaper, it is expected that current gaps in genome references will improve. However, disparities within the NHSs suggest that advancements do not necessarily rely on resources but the appropriate regulation and pathways for education of professionals being properly implemented. This is where Genomics England can be a clinical genomic implementation example for routine health care. Ethical challenges, including privacy, informed consent, equity, representation, and genetic discrimination, also require the need for robust legal frameworks and culturally sensitive practices. The future of genomics in Spanish-speaking countries depends on addressing all of these issues. By navigating these challenges responsibly, Spanish-speaking countries can harness the power of genomics to improve health outcomes and advance scientific knowledge, ensuring that the benefits of personalized medicine are realized in an inclusive and equitable manner.