Data and artificial intelligence are revolutionizing medicine

By personalizing diagnoses and therapies, precision medicine improves treatments and allows us to reevaluate responses to diseases

There is a revolution underway in medicine. The use of data and artificial intelligence, through precision medicine, has already guaranteed effective responses in various specialties, with tests and treatments available to patients in centers of excellence. Based on the analysis of each individual’s genetic or imaging data, as well as other determinants, such as the person’s lifestyle and environment, precision medicine has become a tangible reality in oncology and hematology, and it has been shown to increase its potential in areas such as cardiology, neurology, psychiatry and rheumatology, helping, for example, to identify the risk of developing diseases, from heart disease to Alzheimer’s.

“As the volume of data on the individual and community increases, and with genetic sequencing, we begin to look at the individual with a magnifying glass. That is, the person is not just a 50-year-old adult. We know that his father and mother have certain diseases, that he lives in a specific environment, has his own lifestyle and has a genetic map with certain characteristics,” observes Eliézer Silva, director of the Einstein Health System.

This collection of information contributes not only to the personalization of treatment, but also to the prediction and prevention of diseases, pillars which, together with the participation and commitment of patients in their own care, form the basis of precision medicine.

“When we talk about health, there is a lot of data available. And the more we delve into this data, the more we learn about diseases and outcomes. By using this data set for prevention and treatment, we are talking about personalized medicine,” he says. Miguel Cendoroglo Neto, director of medical and hospital services at Einstein.

For those who already have a diagnosis, especially when it comes to cancer, the genetic investigation opens a “sheet” of additional information which helps to define, for example, the most suitable drug for each phase of treatment, considering which ones can guarantee a response better and in a less toxic way. “In the 1980s and 1990s, lung cancer was treated the same way in all cases. Today there are dozens of drugs for tumors in different stages of development, and there are different drugs for each type of tumor,” he points out Silva.

Fernando Moura, medical director of the Einstein Precision Medicine Program, explains that by looking at genetic sequencing, it is possible to know where the change is in the DNA that led to the development of a certain condition. “And so, instead of proposing a one-size-fits-all treatment, we are able to offer, for example, a targeted molecular treatment, which will provide better results and quality of life. In some cases, we can recommend drugs with much fewer side effects. to those of chemotherapy,” he says.

Again in oncology, it is possible to establish whether chemotherapy treatment will be necessary after the removal of a tumor, by detecting whether there is circulating tumor DNA in the blood, based on a liquid biopsy – carried out at Einstein with the Signatera test. Its presence determines the so-called minimal residual disease (MRD), which can indicate the presence of foci of micrometastases.

Forecast to prevent

Genetic sequencing is also an important ally even before there is a diagnosis. Predictive tests map the possible risks that a person may develop a disease, leading to monitoring or even a change in habits that can be crucial in prevention.

At Einstein, the Predicta test, for example, allows you to map up to 563 genes. In the most complete sequencing it is possible to know the risks of developing up to 22 types of cancer, 12 cardiovascular diseases and coagulation, metabolism, immunity and neurological disorders, as well as other genetic diseases. Each year, for up to five years, an orientation consultation before the test and follow-up consultations after the results are held with the hospital’s geneticists.

This type of test also provides another increasingly important tool in precision medicine: the investigation of the patient’s pharmacogenetic profile, which determines his response to different drugs, considering the ability to metabolise the substances and prevent possible adverse reactions, adjusting the prescribed doses, for example.

“In psychiatry, most of the time, the adjustment of the drug and the right dose occurs through trial and error. Pharmacogenetic tests help the psychiatrist to know in advance, through the results, which is the best option for the metabolism of the patient, minimizing unwanted side effects,” explains Eliézer Silva.

In rheumatology, which treats autoimmune diseases such as rheumatoid arthritis and lupus, the use of anti-TNF drugs, such as infliximab, is common, but not all patients do well with the treatment. In the United States, however, tests are now available that may indicate the possibility of success. “With the test results, the doctor can indicate the best way to treat the disease. The treatment becomes more refined and the patient’s quality of life improves,” says Moura.

Early diagnosis of Alzheimer’s

An examination begun more than a year ago at Einstein allows us to confirm, through images, the diagnosis of Alzheimer’s in very early stages, up to 20 years before the appearance of clinical manifestations. The technique involves performing PET images in combination with tomography or magnetic resonance studies to map, using nuclear medicine contrast, the presence and extent of beta-amyloid protein plaques, a marker of the disease.

For Rodrigo Deliberato, director of Information Research at the School of Medicine of the University of Cincinnati (USA), in the coming years the area of ​​immunological diseases and disorders should emerge within precision medicine, with the help of algorithms and data analysis. The specialist cites inflammatory bowel disease (IBD), where many patients do not benefit from available treatments. “AI allows us to identify groups of patients with similar characteristics to develop and provide them with personalized therapies,” says Deliberato.

And it also allows you to modify protocols based on the results. At Einstein, what began with the analysis of data from 250 cases of patients with pancreatic tumors led to a change in the indication of chemotherapy before surgery to, for example, shrink the tumor. “By analyzing our data, we realized that not everyone should receive preoperative chemotherapy. In some cases, direct surgery was the best option,” Moura reports. Data was collected from other similar studies, through meta-analysis. Einstein’s team analyzed 3,229 study abstracts and selected six randomized clinical trials, concluding that proceeding directly to surgery was the most appropriate route for some cases.

In another study at Einstein, this time using imaging tests, the Center of Excellence for Maternal-Fetal Medicine analyzed 38,000 obstetric ultrasounds. In this exam it is possible to visualize the flow of the left uterine artery, which contributes to the nutrition of the fetus. Based on these images it was possible to build an algorithm capable of predicting in advance, around the 12th week of pregnancy, the risk of the baby being born with low birth weight – which allows more time to carry out interventions and avoid birth problems .

Data obstacles

While all paths for the future of medicine point towards precision medicine, there are obstacles that must be overcome. One of these, as explained by Tatiana de Almeida, coordinator of Data Science at the Einstein Clinical Laboratory, is to make large quantities of information communicate. “Objective data, such as that obtained from tests, are easier to work with. But those generated from medical records, which are more subjective, are different,” explains the doctor.

According to her, published studies show that in the future it will be possible, on the basis of organized information banks, to predict whether a given person, if he does not change his lifestyle, will see his glycemic level increase in one or two years. “It is possible to make this prediction before the patient has physiological damage, and this is done by analyzing information from different tests together, not just previous blood sugar data, because each individual has a unique organism,” Almeida says.

For Deliberato, for personalized medicine to work better, greater integration between the government and other healthcare institutions is necessary. “Only in this way will we have an adequate number of patients to carry out the analyses. Oncology has taken the initiative [na medicina personalizada] because there is a lot of data available,” he says.

Cendoroglo points out that database analysis can be essential to validate new therapies more quickly. “Some studies show that today it takes 15 to 20 years from the conception of the idea of ​​a new treatment for it to become a universal practice. During the pandemic we saw that it was possible to do it in two years. And data can help a lot in this regard. “

The centers work in a multidisciplinary way on different specialties

Although he looks to the future, when it comes to precision medicine Einstein – who will organize the III Einstein International Symposium on Precision Medicine on September 29 and 30 – is already trying to adapt to the new reality. Today the hospital has 16 Centers of Excellence in Personalized Medicine (CEMP) and the idea is, by the end of 2026, to have 60 centers in total. “We are reorganizing Einstein’s entire medical practice through these centers of excellence,” notes Miguel Cendoroglo. The centers are working groups with specialized doctors, who collaboratively look at diseases, discussing the improvement of treatment paths based on precision medicine tools.

Source: Terra

Ben

Ben Stock is a lifestyle journalist and author at Gossipify. He writes about topics such as health, wellness, travel, food and home decor. He provides practical advice and inspiration to improve well-being, keeps readers up to date with latest lifestyle news and trends, known for his engaging writing style, in-depth analysis and unique perspectives.