A photo. An image of the face. And then, the irreplaceable help of‘Artificial intelligencecapable of re-evaluating an almost infinite series of information in a very short time. Et voilà, to put it in French. The game is done. Or, better yet, you may have a series of useful information to reveal thepossible suspicion of a painting of rare genetic diseaseand then investigate the suspected diagnosis with specific tests.
To propose this original screening techniquewhich starts from an image, are modern applications of AI. Because applications for smartphones are being developed which, using Artificial Intelligence algorithms, have the ability to recognizeanalyzing the photos of patients suffering from presumed genetic diseases, the facial features specific conditions associated with these pathologies. The news emerges from the national Human Genetics congress held in Padua.
How it works
First of all you need to aim for it smartphones on the photo of the potential patient. Or, obviously in presence, taking a live snapshot. Then the algorithm present on the device analyzes the image, deduces possible genetic pathologies and provides the doctor with a list of likely options. In short: it screening via “smartphone” it could become a valuable screening tool to help doctors and researchers define a suspected diagnosis.
Let’s be clear. We are only at the beginning. And the certainty remains that sometimes the diagnosis of a genetic disease is sometimes difficult. Today it is estimated that one child in 200-250 may have a disease of genetic origin; some of these clinical conditions, such as Down’s Syndrome, are well known, fairly frequent and easily diagnosable. But others, rarer and much less known both in terms of existence and in terms of natural history, they are not as easily recognisable.
AI changes the rules of the game
Technological evolution in the field of genetic diagnostics has greatly expanded knowledge of the biological bases of the various syndromes, and today the vast majority of clinical diagnoses have the possibility of being confirmed with a laboratory tests. Now Artificial Intelligence is also coming into play with increasing weight.
“Even for the rarest syndromes, which are more difficult to diagnose – recalls Luigi Memo, pediatrician and geneticist at the IRCCS Burlo Garofolo in Trieste – the clinical geneticist can have new tools at his disposal: diagnostic techniques such as molecular karyotyping and new generation sequencing, but also very powerful online search engines. And what’s more, this app is now also available: it can be used as a sort of second opinion to diagnose rarely seen genetic disordersor to provide a starting point in cases where the doctor does not know how to treat and define a patient’s symptoms.”
The world of rare diseases
There are many rare diseases, although perhaps taken one by one they affect only a few people. We are around at least 7,000 pathologieswhich in four out of five cases recognize a genetic origin. It is true that there is a low prevalence in the population (not exceeding 5 cases per 10,000 inhabitants according to the criteria adopted in the European Union), but it is equally undeniable that these are conditions that need to be investigated and followed carefully.
This was reiterated by the experts present in Rome, in the Sala Matteotti of the Chamber of Deputies, on the occasion of the event
“The invisible challenges of rare and infrequent diseases: knowing, understanding and managing the impacts on mental health”.
A few days after World Mental Health Daywhich falls every year on October 10ththe event – promoted and organized by The European House – Ambrosetti (TEHA), with the non-conditioning contribution of Amgen – turned the spotlight on the challenges, health and beyond, faced every day by the over 2 million rare and by their family members and caregivers, starting from the psychological impact of these diseases.
The psychological “burden” of rare diseases
Rare diseases are a very heterogeneous group of pathologies with some characteristics in common, including the prevalent appearance in childhood, a predominantly chronic and multi-organ nature and the difficulty in reaching a certain and timely diagnosis and when prescribing treatment.
These characteristics, the high number and the low prevalence – less than one case every 2,000 people, according to a threshold set at European level – entail considerable clinical-organisational complexities which are at the basis of the difficulty taking charge: over 95% of these pathologies have no cure available, 60% of patients initially receive an incorrect diagnosis.
Uncertainty and unpredictability of these diseases often force patients to seek emergency healthcare services, with the rate of emergency room access significantly higher than the general population (24.1% compared to 4.3%). The impact of rare and infrequent diseases is not limited to the physical level, but also affects the psychological sphere, with a probability of developing mental disorders 1.5 times higher than the general population (30-50% compared to 20%).
Up to 50% of patients with rare diseases can develop danxiety disorders or depressiondirect consequences of difficulties in managing the disease, social isolation and uncertainty about the future; 75% of caregivers also report symptoms of mental fatigue and emotional stress.
The discomfort for patients and caregivers
“In today’s context in which mental distress affects an increasingly significant number of individuals, people’s psychological well-being can only be an essential element on which to focus attention – reported Camilla Callegari, Director of the School of Specialization in Psychiatry at University of Insubria, Varese. This is even more true for extremely delicate situations such as those of rare diseases, which create life difficulties for patients and their families.”
The sense of isolation and uncertainty linked to the diagnosis, to future and financial prospects and the availability of treatments compromise the quality of life and expose one to psychological distress and concomitant mental disorders, which must be understood and known in order to create shared paths that can positively impact the mental health of patients with rare diseases.
For these diseases there is also a gender theme. In Italy they are in fact further 2 million women who deal with a rare disease on a daily basis: more than 1 million as patients and the same number as caregivers.
“The numbers tell us that approximately 50-60% of people suffer from rare diseases women, often of working and childbearing agewith significant impacts on quality of life and mental well-being – added Irene Gianotto, Consultant Practice Healthcare, TEHA. For 1 in 4 women, the economic situation changed after the diagnosis of a rare disease, with a worsening in 8 out of 10 cases and more than 3 days of work lost per month. This requires using a gender approach to ensure timely diagnoses and more targeted treatments: age and sex are in fact the main determinants of the duration of the diagnostic process, with women and children who face longer waits than men and adults.”
