"Rare diseases are rare, but rare diseases patients are numerous": Development of a reference platform for genetic diagnosis and clinical counseling via telemedicine for patients with Rare Diseases, in accordance with DECIT/SUS guidelines

• Grant number: 23/09965-0
• Support Opportunities: Research Grants - Research in Public Policies
• Start date: February 01, 2024
• End date: January 31, 2028
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Magda Maria Sales Carneiro-Sampaio
• Grantee: Magda Maria Sales Carneiro-Sampaio
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated researchers: Alexander Augusto de Lima Jorge ; Ana Cristina Victorino Krepischi ; Carmela Maggiuzzo Grindler ; Chong Ae Kim ; Edmar Zanoteli ; Edmund Chada Baracat ; Ester Cerdeira Sabino ; Leslie Domenici Kulikowski ; Luiz Fernando Onuchic ; Maria Rita dos Santos e Passos Bueno ; Mariz Vainzof ; Mayana Zatz ; Regina Célia Mingroni Netto ; Suely Kazue Nagahashi Marie
• Associated scholarship(s): 24/14770-7 - Development of algorithms for clinical data management and analysis of massive parallel sequencing data of patients with rare diseases, BP.PD; 24/09978-8 - Exome sequencing in the search for variants involved in patients' clinical conditions, BP.TT

Abstract

With the advancement of genetic diagnostic techniques in recent decades, the number of Rare Diseases (RDs) has grown exponentially, estimated to affect 6% of the population, which would mean approximately 2.5 million affected individuals in the State of São Paulo. The challenges faced by these patients and their families are immense, with the most common complaint being the long delay in obtaining a confirmed diagnosis. Thus, RDs represent an emerging issue in the health care system.With the aim of improving the care for patients with RDs, the main objective of this Project is to establish a reference platform for the genetic diagnosis of RDs, providing guidance for clinical management and support for the development of public policies. Through this platform, centered at HCFMUSP and IBUSP, the process of receiving cases with indication for genetic evaluation would be managed, including the forwarding of samples for analysis, execution of exams (with priority for whole exome sequencing - WES), interpretation of results, and providing support to the requesting physician regarding clinical management. To achieve this, a telemedicine system would be expanded, with preference for interconsultations, enabling the discussion of cases between the attending physician(s) and specialists associated with the DORA (an acronym in Portuguese for RDs) Network, comprising the main Medical Schools in the State, where the experts in Rare Diseases usually work.In addition to WES and screening of family members, another objective would be to implement complementary methodologies for genetic and genomic investigation to elucidate complex cases that remain undiagnosed by WES. The analysis of data from patients evaluated in this project, along with thousands of patients already studied at HCFMUSP and the Human Genome Research Center (IBUSP), will contribute to the creation of databases, allowing the identification of the main recessive diseases with the potential to occur in the general population, assuming that São Paulo reflects the ethnic peculiarities and mixture of the Brazilian population.Educational activities are also being planned with the aim of improving the knowledge of rare diseases on the part of attending physicians and nurses. (AU)