The adequate use of information on sequences of the genetic material in human and other
organisms, as well as technological innovations, will allow significant advances in our
understanding of genetically based diseases and, more importantly, how health care is managed.
We review the main topics in Genomic Medicine and the skills required in health professionals to
apply them. Rare Diseases arise as a health issue in a country with good general indexes like
Chile and concerns around one million Chileans at some point in their lives. It emphasizes the
importance of sharing data to make progress in knowledge and management, while keeping
confidentiality measures. Some preliminary strategies are outlined in Chile to confront Genomic
Medicine. The position of the American College of Medical Genetics and Genomics (ACMG)
is presented to the possibilities offered by the development of new technologies such as
genomic editing.
Castillo T., S. . (2016). Genética y genómica en la atención de salud. Revista Hospital Clínico Universidad De Chile, 27(4), pp. 320–8. https://doi.org/10.5354/2735-7996.2016.70860
