A picture. Face photo. And then, the irreplaceable help of‘Artificial IntelligenceAble to review an almost unlimited stream of information in a very short amount of time. Et voilà, to put it in French. The game is over. Or, better yet, you may have a series of useful information to reveal.Possible doubt A painting of Rare genetic diseaseand then investigate the suspected diagnosis with specific tests.
To suggest that Original screening techniqueswhich starts with an image, are advanced applications of AI. Because applications are being developed for smartphones that have this capability using artificial intelligence algorithms. recognitionAnalyzing images of patients with suspected genetic diseases Facial features Specific conditions associated with these pathologies. This news came from the National Human Genetics Congress held in Padua.
How it works
First you have to aim for it. Smartphone On a picture of a potential patient. Or, obviously in presence, taking a live snapshot. An algorithm on the device then analyzes the image, Assesses potential genetic pathology. and provides the doctor with a list of possible options. In short: this Screening by “Smartphone”. It can be a valuable screening tool to help doctors and researchers define suspected diagnoses.
Let’s be clear. We are only at the beginning. And sure enough sometimes Assessment A genetic disease is sometimes difficult. Today it is estimated that one in 200-250 children may have a genetic disorder. Some of these medical conditions, such as Down syndrome, are well known, fairly frequent and easily diagnosed. But others, Rare and little known. In terms of existence and natural history, they are not so easily identifiable.
AI changes the rules of the game.
Technological evolution in the field of genetic diagnosis has greatly increased knowledge about the biological bases of various syndromes, and today the majority of clinical diagnoses are likely to be confirmed. Laboratory tests. Artificial intelligence is now working with increasing weights.
“Even for the rarest syndromes, which are more difficult to diagnose – recalls Luigi Memo, pediatrician and geneticist at IRCCS Burlo Garofolo in Trieste – the medical geneticist may have new tools. : diagnostic techniques such as molecular karyotyping and next-generation sequencing., but also a very powerful online search engine. What’s more, this app is now available: it can be used as a second opinion. To diagnose rare genetic disordersor to provide a starting point in cases where the doctor does not know how to treat and explain the patient’s symptoms.”
The world of rare diseases
There are many rare diseases, although they probably only affect a few people individually. At least we’re around. 7,000 pathologieswhich recognizes a genetic origin in four out of five cases. It is true that there is a low prevalence in the population (not more than 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 should be investigated and followed carefully. need of
This was reiterated by the experts present in Rome during the ceremony in Sala Matuti of the Chamber of Deputies.
“The hidden challenges of rare and uncommon diseases: knowing, understanding and managing the impact on mental health“
A few days later World Mental Health Daywhich falls every year. October 10The event – promoted and organized by The European House – Ambrosetti (TEHA), with Amgen’s non-conditioning partnership – brought together more than 2 million people with rare and everyday challenges, health and beyond. highlighted. their family members and caregivers, starting with the psychological effects of these illnesses.
The Psychological “Burden” of Rare Diseases
Rare diseases are a very heterogeneous group of pathologies that share some characteristics, including a common presentation in childhood, a predominantly chronic and multiorgan nature, and Difficulty in arriving at a specific and timely diagnosis and when prescribing treatment.
These characteristics, the high number and low prevalence – less than one case per 2,000 people, according to the threshold set at the European level – entail considerable medical-organizational complications that are mainly Difficulty charging: More than 95% of these pathologies have no treatment available, 60% of patients are initially misdiagnosed.
Uncertainty and unpredictability Most of these diseases prompt patients to seek emergency health care services, with rates of emergency room access significantly higher than in the general population (4.3% versus 24.1%). The impact of rare and rare diseases is not limited to the physical level but affects the psychological sphere as well. Likelihood of developing mental disorders 1.5 times higher than the general population (30-50% compared to 20%).
Up to 50% of patients may develop rare diseases.Anxiety disorder or depressiondirect consequences of difficulties in disease management, social isolation and uncertainty about the future; 75% of caregivers also report symptoms. Mental fatigue and emotional stress.
Discomfort for patients and caregivers
“In today’s context in which mental disorders increasingly affect large numbers of people, people’s psychological well-being may be just the most important factor to focus on” – Camilla Callegri, Director of Psychology at the University of Insabria I reported the director of the school of psychiatry. “This is even more true for critical conditions such as rare diseases, which create life-threatening difficulties for patients and their families.”
Il Feelings of isolation and uncertainty Attached to assessment, to Future and financial prospects And the availability of treatment compromises the quality of life and predisposes one to psychological distress as well as mental disorders, which must be understood and addressed in order to create common pathways that positively affect the mental health of patients with rare diseases. can have an effect.
There is also one for these diseases. Gender theme. In Italy they are actually more. 2 million women Who deal with a rare disease on a daily basis: more than 1 million patients and as many as caregivers.
“Statistics tell us that about 50-60% of people are suffering from rare diseases. Women are often of working and childbearing age.With significant impact on quality of life and mental well-being – added by Irene Gianotto, Consultant Practice Healthcare, THA. For 1 in 4 women, the economic situation changed after a diagnosis of a rare disease, worsened in 8 out of 10 cases and lost more than 3 days of work per month. A gender perspective needs to be used to ensure this. Timely diagnosis and more targeted treatment: Age and gender are actually important determinants of the duration of the diagnostic process. Women and children who face longer waits than men and adults.”
