Personalized Medicine: towards implementation in healthcare

Cardoso, Maria Luis

http://hdl.handle.net/10400.18/9046

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Cardoso, Maria Luis

Abstract(s)

The presentation titled "Personalised Medicine: Towards Implementation in Healthcare" explored the integral role of personalized medicine within the broader concept of Person-Centered Care. The fundamental principles guiding this approach include recognizing each individual's uniqueness, addressing their specific needs, ensuring informed consent, and involving them in decisions related to their therapies. Personalized medicine, as defined in the European Council Conclusion on personalized medicine for patients, involves characterizing individuals' phenotypes and genotypes to tailor therapeutic strategies, evaluate predisposition to diseases, and deliver timely prevention. Over the last few decades, significant advancements in genetics, including the development and application of innovative technologies, have led to a profound understanding of genetic information and molecular mechanisms underlying hereditary diseases. The impact of advances in genetic diagnostics and testing on healthcare has been substantial, resulting in more efficient and accurate testing methods. The transition from genetics to genomics has particularly influenced healthcare systems globally, giving rise to genomic medicine. The benefits of genomic medicine encompass accurate diagnosis, reduced number of medical appointments, exams and the long "diagnostic odyssey, personalized cancer treatment based on genetic profiles, improved effectiveness and reduced adverse drug reactions through pharmacogenomics, and evaluation of genetic risk profiles for chronic diseases. Genomic data has also facilitated the matching of patients with appropriate clinical trials, contributing to more equitable treatments for diverse ethnicities. The presentation emphasized that genomics is already enabling precise prediction, diagnosis, and treatment of diseases. The Declaration of Cooperation, "Towards access to at least 1 million sequenced genomes in the EU by 2022," was highlighted. Signed by the Portuguese Ministry of Health in 2018, the initiative involves 25 EU countries, the UK, and Norway. Its primary goal is to provide secure access to genomic and clinical data across Europe, fostering collaborative investigation of diseases and enhancing the competitiveness of the EU in predictive, preventive, and participatory healthcare. The strategy to achieve the 1+MG initiative includes obtaining clinical data from patients and general citizens, with the Genome of Europe Project contributing with at least 500,000 genomes. This multi-country project aims to build a collective reference genome cohort representing the genetic composition of the European population. In 2021, the Portuguese government established the multidisciplinary Commission PT-MedGen to define the roadmap for implementing the Portuguese National Strategy for Genomic Medicine. This strategy aligns with the 1+MG initiative, outlining objectives, stages, activities, goals, deadlines, expected results, and investment needs for the successful implementation of genomic medicine in Portugal.