When Dr robert guthrie introduced the newborn screening program 60 years ago, he would hardly have imagined that one day we would be able to sequence the genome of newborns to detect hundreds of diseases. Today, this perspective is becoming reality.
Mark this thing on the agenda for the near future: predictive and personalized medicine. What is it about?
New Era in neonatal health
The concept of predictive and personalized medicine is about to make a qualitative leap with the introduction of newborn genomic screening. This evolution brings to the forefront the idea of a radical change in neonatal health protocols.
Predictive and personalized medicine is an innovative approach to health care that is based on the genetic and biological analysis of the individual. This allows us to predict susceptibility to certain diseases and personalize treatments to be more effective. In essence, rather than applying a “one size fits all” approach, predictive and personalized medicine adapts therapies and preventive measures to the unique characteristics of each patient, improving the effectiveness of treatments and reducing the risks of side effects.
The current state of newborn screening
In many countries around the world, newborn screening has always focused on specific diseases, identified through a simple blood sample (generally from the newborn's heel). In the French national newborn screening programme, among the most advanced in the world, 13 rare diseases have been recognised. This is just a start with respect to the potential of genomic sequencing.
The near future
The futuristic vision proposed to French healthcare (and recently illustrated by Dr David Geneviève in the latest conference of the French Society of Predictive and Personalized Medicine) involves the use of complete genome sequencing. A newborn screening that is not only used to identify already known diseases, but to "scan" and possibly prevent hundreds of other rare conditions.
It could be a gigantic step forward in the ability to intercept complex pathologies early, allowing (gradually, starting from 2025) targeted therapeutic interventions from the first days of life.
This perspective, of course, is not limited to France. Studies like the BabySeqProject in the USA and the program of Genomics England in the UK are exploring the effectiveness and implications of this technology. Others are underway between Belgium and Italy. Projects that represent a clear signal: the world is moving towards a more complete and detailed approach to neonatal health.
The first sequencing in 2003 cost almost $3 billion. Nowadays it is possible to do it for less than €1.000.
Ethical and social dilemmas: “Gattaca” effect?
These innovations raise important ethical and social issues. The processing of genetic data, especially that which could reveal pathologies in adulthood, raises significant concerns. The management and storage of this information, as well as its impact on privacy and individual decisions, are issues of great importance.
Again: the cost of genome sequencing has dramatically decreased. The first sequencing in 2003 cost almost $3 billion. Nowadays it is possible to do it for less than €1.000. Nonetheless, the question arises as to how such technology should be integrated into the social and medical fabric. The decision to adopt large-scale newborn genomic screening requires in-depth debate and informed decisions by society as a whole.
Ultimately, we are facing a potentially revolutionary breakthrough in neonatal care. The promise of early and targeted diagnosis of hundreds of rare diseases opens new horizons in preventive medicine. However, this path must be undertaken carefully, taking into consideration all the ethical, social and financial aspects involved.
