GENES AND HEALTH. WHAT IS STILL HIDING IN OUR DNA?

Paolo Gasparini, professor of Medical Genetics, Trieste University / IRCCS-Burlo Garofolo

Maria Iascone, director Laboratory of Medical Genetics, Papa Giovanni XXIII Hospital, Bergamo

Marco Cambiaghi, researcher and teacher University of Verona, collaborator of Tuttoscienze and Salute of La Stampa

It's been over 20 years since the announcement that the Human Genome had been fully sequenced. Since then, our ability to analyze DNA has accelerated dramatically: sequencing has become faster and cheaper, transforming it from a research tool into a key instrument for diagnosis as well. However, alongside this technological advancement, the complexity of interpretation has also grown. We still have only partial knowledge of our genome, particularly when it comes to understanding which genes are responsible for specific diseases and to what extent. Some diseases are so rare they don't even have a name, others are linked to specific mutations, and there are complex diseases where genetics is just one of several contributing factors. In this landscape, how can we navigate the increasing availability of genetic tests? How and to what extent can genetics be used for population-wide screening? What are the current potentialities and limitations?