Considered one of the strategic specialties for the medicine of the future, mainly because it offers personalized and predictive medicine, the area of medical genetics it can still be considered new and with a still limited, although growing, number of specialists. Therefore, it is important that physicians of different specialties become increasingly knowledgeable regarding genetics and are aware of the situations in which they should refer their patients to a geneticist.
The geneticist doctor has a wide range of activities. He can, for example, assess the predisposition to cancer in a family and define the most appropriate follow-up mode for each person. In these cases, genetic tests can help choose the best treatment in each situation. The personalization of care also contributes to a better doctor-patient relationship and the humanization of care. To achieve these goals, professionals face some challenges, such as the need to always be up-to-date and on top of what’s new in the field, which continually adds new tests, procedures, and research that result in innovative treatments.
The specialty ends up benefiting all areas of medicine, such as oncology, cardiology, reproduction, neurology and, especially, rare diseases, areas that are action fronts for Dasa Genomics, the genomic arm of Dasa, the largest integrated health network. People with rare diseases, for example, take an average of seven years to discover their disease. One of the goals of medical geneticists is to shorten this journey. Among the actions with this objective is the increasing use, although always judicious, of the new diagnostic tools available, such as the microarray for chromosomal examinations, panels with multiple genes related to specific phenotypes and exome sequencing, for example.
Fight misinformation (fake news) is another challenge for this specialist. With the spread of a growing volume of false or wrong information, it is extremely necessary for the professional to be prepared and well informed to provide clarifications, always taking into account the position in favor of the patient’s health. Genomics is making medicine increasingly predictive and personalized. Tools such as machine learning and artificial intelligence have helped collect critical information scattered in medical records, as well as interpret exams quickly and efficiently (imaging and pathology, for example), bringing new processes to clinical practice that, by Ultimately, it translates into benefits for the patient.
Another example of advances in the area is gene therapy, capable of using genetic material to treat diseases, with transformative changes in the natural history of many diseases to date without efficient therapy.
We can say that genetics is increasingly part of the medical routine of all specialties. A better understanding of the relationship with diseases (not only with the rare ones, but also with the common ones), as well as with new diagnostic tests and innovative treatment tools, together with a focus on a more personalized, predictive and humanized medicine, transforms gradually medical practice and, consequently, people’s lives.
* Dr. Roberto Giugliani, Chief of Rare Diseases at Dasa Genomics.
