The IMPaCT-GENóMICA Programme, which is part of the IMPACT initiative promoted by the Carlos III Health Institute (ISCIII) coordinated by the Rare Diseases thematic area of the CIBER (CIBERER), has established “in a pioneering way in Spain” the bases and circuits for the coordinated and equitable management of highly complex genomic diagnosis throughout the national territory.
The results of this program were presented on Monday, October 9 at the second IMPaCT-GENóMICA Conference held in the Ernest Lluch Hall of the ISCIII in Madrid with the slogan “Advances and challenges in the genomic era”. Different heads of IMPaCT-GENóMICA, other professionals involved in its implementation and representatives of patient associations participated in this meeting.
In order to approach complex diagnostic cases, it is necessary to continuously update knowledge and access to the latest diagnostic techniques, which are not always available in the healthcare field. “IMPaCT-GENóMICA is a pilot program that has laid the foundations for an infrastructure to improve the diagnosis of rare diseases and other diseases of low prevalence in an equitable way throughout the national territory,” said Ángel Carracedo, coordinator of IMPaCT-GENóMICA, director of the Galician Public Foundation for Genomic Medicine (FPGMX) and researcher at the CIBER for Rare Diseases (CIBERER).
More than 2,000 patients
In total, more than 2,000 patients have accessed the program. Currently, the results of the genomic tests are being analysed and work is being done to obtain the diagnosis. 87 of these patients, with rare diseases, have already benefited from the program and have obtained a diagnosis, thanks to the fact that previously, in some cases where possible, the genomic studies carried out previously were reanalyzed.
The program has worked in three areas: rare diseases; hereditary and primary cancer of unknown origin; and pharmacogenomics and population genomics. In addition, IMPaCT-GENóMICA aims to establish mechanisms for the future incorporation of other areas of genomic medicine within the IMPaCT infrastructure.
More than 300 employees and more than 100 hospitals
IMPaCT-GENóMICA has the participation of more than 300 direct collaborators from different entities (hospitals, research centres and universities) and a network of three high-capacity genomic analysis centres set up from existing structures with the aim of offering services such as whole genome sequencing and other technologies to the entire Spanish territory. In addition, it is supported by a network of more than 100 hospitals nationwide with representation from all the Autonomous Communities and a network of more than 400 experts who provide support in diagnosis, both at the molecular and clinical level.
In essence, what this programme seeks is to put experimental ‘omics’ diagnostic technologies at the service of all those people who, after making the diagnostic effort with the available assistive technology, do not have a genetic diagnosis.
“Looking to the future,” Carracedo concluded, “from the program we hope to be able to continue advancing in the identification of undiagnosed patients in the National Health System (SNS), to accommodate those who have not been able to be included in this initial phase, as well as to apply new technologies that enable an improvement in diagnostic rates.”
The 3 axes of IMPaCT
IMPaCT-GENóMICA is one of the 3 programs that make up the Precision Medicine Infrastructure associated with Science and Technology (IMPaCT), launched by the Carlos III Health Institute (ISCIIII), belonging to the Ministry of Science and Innovation.
The programs included in IMPaCT are Predictive Medicine, Genomic Medicine and Data Science. These programs, individually or as a whole within IMPaCT, are designed to provide service to the R+D+I system with a focus on Precision Medicine, to promote the generation and transfer of knowledge of the highest quality in the NHS, ensuring scientific-technical excellence, equity and efficiency in the use of available resources.
The Genomic Medicine program (IMPaCT-GENóMICA), which has funding of 7.24 million euros, is led by Ángel Carracedo from CIBERER.
Second IMPaCT-GENOMICS Conference
In the second IMPaCT-GENóMICA Conference held on Monday, the coordinators of the various working groups of this program participated, who presented their results: Ivo Gut, director of the National Center for Genomic Analysis (CNAG) and coordinator of the network of genomic analysis centers of IMPaCT-GENóMICA; Carmen Ayuso, scientific director of the IIS-FJD, researcher at CIBERER and coordinator of the ethical and legal aspects of IMPaCT-GENóMICA; Pablo Lapunzina, scientific director of CIBERER, researcher at La Paz Hospital and coordinator of rare diseases; Gabriel Capellá, scientific director of IDIBELL, researcher at the CIBER on Cancer (CIBERONC) and cancer coordinator; and Adrián Llenera, director of INUBE and coordinator of pharmacogenomics.
Subsequently, two round tables were held. The first, “Challenges and successes in the implementation of the program”, was attended by Beatriz Morte, head of the Undiagnosed Diseases (ENoD) program of CIBERER; Beatriz Sobrino, head of the FPGMX Sequencing Unit; Emma Soengas and María Barreda, rare disease case managers; Patricia Prada, cancer case manager; and Olalla Maroñas, researcher at the FPGMX and member of pharmacogenomics.
In the second round table, “Genomic medicine and territorial equity. Challenges and opportunities for the implementation of protocols in the NHS”, Ángel Carracedo intervened; Juan Carrión, president of FEDER; Marta Puyol, director of research at the AECC Scientific Foundation; Alfonso Valencia, coordinator of IMPaCT Data and researcher at the Barcelona Supercomputing Center; and Encarna Guillén, from the Virgen de la Arrixaca University Clinical Hospital and from CIBERER.