On Saturday, April 15th, an important event organized by the team of the Laboratory of Genetics and Molecular Cardiology of the Heart Institute (LGCM-InCor), located at the Hospital das Clínicas of USP, took place to discuss the advances of precision medicine. The symposium featured renowned medical experts and aimed to present the latest advances in precision medicine, as well as to discuss the implementation of these techniques in clinical practice.
The opening and coordination of the event were led by Dr. José Eduardo Krieger, director of LGCM and one of the most renowned cardiologists in the country. Precision medicine is an innovative approach that uses genetic, molecular, and clinical information to personalize the diagnosis, treatment, and prevention of diseases, bringing significant benefits to patients and healthcare professionals.The Symposium was an opportunity for professionals to update their knowledge in this constantly evolving field and share experiences on the implementation of precision medicine with the CardioGen project team at LGCM.
What happened during the meeting?
The symposium featured the participation of CardioGen’s staff led by Dr. José Krieger. The event had the presence of renowned international scientists and culminated in a hands-on where the team demonstrated the functioning of the precision medicine center.
The event featured four modules covering aortopathies, arrhythmias, cardiomyopathies, and dyslipidemias in relation to genetic testing. Experts discussed indications for genetic testing, impacts on diagnoses and treatments, as well as presented clinical cases. After each module, there was a discussion session.
During the lectures of the first module, the state-of-the-art in TTR amyloidosis and gene-guided treatment were discussed. The role of genetic testing in non-ischemic cardiomyopathies and the prognostic impact of positive genetic testing in hypertrophic cardiomyopathy were also addressed. In this segment, we had the participation of Dr. Fernanda Andrade, cardiologist and CardioGen team member.Throughout the schedule, other members of the team joined the discussion such as Dr. Marjorie Mizuta, Dr. Silas Furquim, Dr. Luciana Sacilotto, Dr. Layara Lipari, Dr. Fernando Giugni, Dr. Natália Olivetti, Dra. Bianca Linnenkamp and Dr. Lucas Vieira.Among the topics discussed by the specialists, the relationship between genetic testing and dyslipidemia drew attention. Aspects such as risk scores for hypercholesterolemia or PCSK9 inhibitors (Learn more about PCSK9) were part of the discussion among the laboratory experts and invited professionals.
The event also featured international guests who brought valuable information on cardiomyopathies and forensic medicine. Professor Dr. Andrea Mazzanti from the University of Pavia in Italy presented a lecture titled “Genetic Testing in Cardiomyopathies: Have We Arrived?”. Professor Dr. Christopher Semsarian from the University of Sydney in Australia gave a talk on how to engage Brazilian doctors in the important task of molecular autopsy in victims of sudden cardiac death. Both lectures were extremely informative and made significant contributions to the event’s discussion.
As part of the continuing education for the professionals who attended the symposium, the CardioGen team offered a hands-on experience consisting of five practical stations that covered different aspects of genetic counseling and genomic analysis. The first station presented pre-test counseling to guide patients on the risks and benefits of genetic testing. The second station demonstrated DNA extraction and NGS sequencing. The third station addressed genetic variant classification and its importance in interpreting results. The fourth station discussed post-test counseling to help patients understand the results of genetic testing. Finally, the fifth station covered clinical screening of family members through exams such as ECG and echocardiography. The hands-on experience ended at 4:10 pm with final discussions.
Precision Medicine at LGCM
CardioGen is a multidisciplinary group specialized in healthcare for patients with genetic cardiovascular diseases, operating at the Heart Institute of São Paulo (InCor), HC-FMUSP. Composed of cardiologists, geneticists, biologists, and biomedical professionals, the team is led by Professor Dr. José Eduardo Krieger, full professor of Genetics and Molecular Cardiology at the University of São Paulo School of Medicine. CardioGen provides Precision Cardiology services, including genetic counseling, genetic and molecular testing, and multiprofessional outpatient care. The approach is humanized, integrated, and personalized.
Dr. Lucas Vieira is one of the geneticists on the team and adds that CardioGen is a pioneering initiative in both the clinical and medical genetics fields. He hopes that in the short term, the team can provide more information about precision medicine to other professionals, and in the long term, these professionals will form other multidisciplinary teams that involve geneticists, cardiologists, and bioinformaticians that promote Brazilian precision medicine to the world.
“…Precision medicine offers numerous opportunities for scientific development within the medical field, and it is a new area that is beginning to move the world…“ — said the physician.