Rare, but Not Invisible: Advancing Genomics Research a Nd Implementation for Undiagnosed Diseases

Rare diseases comprise thousands of very diverse, chronic conditions that can cause disability and/or premature death. Each one affects a few people, but collectively, it is estimated that they impact up to 5% of the population. Most rare diseases are of genetic origin. The development of new genomic tools, such as massive or next-generation sequencing, has led to a revolution in discovery, diagnosis and therapeutic developments. However, access to these technologies is very limited in Chile. This article describes our work in advancing the implementation and evaluation of genomic strategies for people with rare diseases in Chile, as well as reflections and proposals for the development of genomics in health in our country.