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

Paolo Gasparini, docente di Genetica Medica Università di Trieste, IRCCS-Burlo Garofolo

Maria Iascone, direttore Laboratorio di Genetica Medica Ospedale Papa Giovanni XXIII Bergamo

Vincenzo Nigro, docente di Genetica medica Università Vanvitelli di Napoli, ricercatore TIGEM-Telethon Institute of Genetics and Medicine

Marco Cambiaghi, ricercatore e docente Università di Verona, collabora con Tuttoscienze e Salute de 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?