Every century has its landmark moments when it comes to milestones in understanding the human body and the human being. Revealing human biology transitioned the ambition of semiology to make assumptions based on signs from the outside to the long hauled queen of medicine – anatomy – to the revolution of molecular sciences casting light on everything invisible to the naked eye. The intuition of the physician to describe the human body has been complemented over the years with better tools: stethoscope, X rays, microscopes, PCR, NGS.
At the turn of the millennium, The Human Genome was completed achieving an ambitious goal that was assumed to unlock the mysteries behind many common and rare diseases. The change was even more profound. There is so much variation that it is increasingly difficult to define health. Genomic data has unique features (can be inheritable, permanent) which lead to disruptions: moving away from treating people as averages, understanding drugs response, new models of risk prediction, making n of 1 therapies, understanding the impact of environmental factors on the genome and understanding the implication of the genome in society.
Fast forward to 2022: Today, a genome can be read with high accuracy, edited, and even rewritten. Genomics is redefining every medical specialty and changing standards of care on the whole continuum of care. Science can go even further: we can analyze biological molecules from multiple angles even at the level of single cells. Over 1000 omics have been described so far allowing a high-definition understanding of different sets of molecules that make up human biology.
Now, we are witnessing rapid developments towards a new dimension of redefining disease, health and society through new lenses: multi omics. Integration of biological data, along with all the other data that define a person’s health and well-being can become the foundation of truly personalised medicine.
This new dimension is unachievable without another longitudinal science – data science. Biological data needs to be translated in a new alphabet to show value, the one of digital tools and technologies.
The value can mean better prediction of the transition between health and disease, on an individually tailored basis.
A complete biological system can be modeled by adding all these layers of information with the help of AI and emerging digital technologies.
We are not sending ships to space multiple times to see if it works. Learning from other sectors in which the digital transformations allow streamlines of end products through digital models, it won’t be long until each person can have access to his/her digital twin to help tailor the best medical intervention.
Medicine is moving from sole intuition, averages and Ivory Towers, to integration, transdisciplinary approaches, and individuals. People are already bringing their genomic information to the attention of the clinician. And this is only the beginning.
It should be our mission – as medical professionals, students, patients, caregivers, citizens, to become contemporary with these changes. We can all become patients, caregivers, and vulnerable. Maybe it is time to use the key word more often – citizen.