Those who studied genetics in the middle of the last century will remember lessons related to the mechanisms of disease transmission, to Mendel’s classic peas, to the complexities of chromosomes. Then came the wealth of knowledge that led this science to represent a therapeutic and ethical revolution that is changing the present and above all the tomorrow of medicine and beyond.
In this sense, technology becomes a key step in making the most of the evolution of knowledge. And Artificial Intelligence fully becomes one of the key tools of medical genetics: even if it will not replace the doctor, it will be able to support him in diagnosis, in the interpretation of genomic data and in the development of new therapies. This was remembered by the experts who gathered in recent days for the National Congress of the Italian Society of Human Genetics (SIGU), held in Rimini.
The impact of technology
The time factor, with the availability of targeted resources, appears fundamental if we want to reinterpret the future of genetics. Benjamin Solomon, Clinical Director of the National Human Genome Research Institute in Bethesda, USA, focused his attention precisely on this aspect and on the opportunities offered by the integration of analysis tools and methods. The scholar, as a true pioneer of the use of AI in medical genetics, has no doubts about the actual usefulness of technological developments.
“Artificial intelligence will not take the place of clinicians, but an integrated approach is certainly more effective. Some tasks may be automated, freeing up time and resources for higher value activities, but the role of doctors will remain fundamental for a long time to come”
is his comment.
On the other hand, even if the prospects are fascinating, the present already says how much and how technology is pervasive and present in the diagnostic paths of rare genetic diseases. Indeed, real “images”, real “selfies” can be exploited, to then be subjected to facial recognition systems that can support paediatricians, neonatologists and general practitioners in the timely recognition of facial dysmorphisms and other clinical signs, promptly directing families towards the geneticist and thus starting faster and more effective diagnostic and therapeutic paths. All this, for an early diagnosis which is crucial not only for recognizing the pathology and initiating targeted treatments, but also for improving patients’ quality of life and prognosis.
Towards even more targeted therapies
SIGU President Paolo Gasparini, Full Professor of Medical Genetics at the University of Trieste, Director of the Medical Genetics Service and of the Department for Advanced Diagnostics and Clinical Experimentation at the IRCCS Burlo Garofolo in Trieste, underlined Italian excellence in the development of gene and cell therapies, explaining that
“The strategy of drug repurposing – or repositioning of drugs – is gaining ground in the field of biomedical research”.
What is this philosophy based on? Basically it involves reusing drugs already approved for other therapeutic indications, studying their effectiveness against different pathologies, often rare and neglected by the pharmaceutical industry.
“This approach offers decisive advantages: it reduces development times and costs, and exploits drugs already known for safety and tolerability. For rare diseases, which affect a limited number of patients and receive little investment, drug repurposing often represents the only realistic path towards new treatments”.
Finally, among the innovations in the sector, we must mention the developments in pharmacogenetics, i.e. the discipline that studies how our DNA influences the response to drugs. In fact, not all of us react in the same way to a therapy: the effectiveness and side effects can vary depending on the genetic characteristics of each person, as well as factors such as age, sex, weight or other diseases present. Knowing these differences allows you to choose the right drug, at the correct dosage, reducing risks and increasing benefits: it is one of the first examples of personalized medicine.
“The advantages do not only concern patients but also the healthcare system and research, because they allow us to optimize resources, avoid ineffective treatments and select more targeted drugs. In Italy, however, the clinical application of pharmacogenetics is still limited and requires clear rules. For this reason, the Italian Society of Human Genetics has developed recommendations to standardize the tests, their interpretation and reporting, with the aim of bringing these innovations into the Service National Health Authority”
is the comment of Matteo Floris, Associate Professor of Medical Genetics at the University of Sassari, co-coordinator, together with Prof. Monica Rosa Miozzo, Full Professor of Medical Genetics at the University of Milan, of the SIGU Group dedicated precisely to pharmacogenetics.
Towards exome screening
Among the innovations in the sector, in general terms, we must always remember the value of screening. These tests represent the basis of preventive medicine, capable of identifying rare but treatable diseases early, offering timely and precise therapies that can radically change patients’ lives. Traditional screening is based on biochemical tests performed on blood samples collected on neonatal cards, its diagnostic potential expands today thanks to the integration with genetic techniques, which prove to be complementary and synergistic in improving sensitivity and specificity.
In this sense, the objective is extended genomic screening, which involves the sequencing of the entire genome or exome, i.e. the part with the instructions for building proteins that contains over 85% of the genetic variations associated with diseases. The objective, as confirmed by the experts present at the congress of the National Observatory of Pediatricians (ONSP), is to increasingly aim to identify an ever-increasing number of genetic diseases that can be treated with precision therapies capable of profoundly modifying the clinical course and quality of life.
Let’s be clear. In addition to technology support, it will be important to consider how large-scale implementation of these strategies poses significant ethical, economic sustainability and equity of access challenges, especially regarding the selection of diseases to include and the management of sensitive data.
