Browsing by Author "Cardoso, Maria Luis"
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- Personalized Medicine: towards implementation in healthcarePublication . Cardoso, Maria LuisThe 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.
- Policy Brief - Genomics in Healthcare: Key issues for implementationPublication . Lopes, Maria Fátima; Merchant, Arshiya; Costa, Alexandra; Perez, Xènia Pérez; Cardoso, Maria Luis; Konopko, Melissa; Bourbon, Mafalda; Scollen, Serena; Vicente, Astrid MouraO projeto Beyond 1 Million Genomes (B1MG) organizou três Country Exchange Visits (CEV) a países europeus com estratégias genómicas avançadas, nomeadamente o Reino Unido, a Estónia e a Finlândia. Representantes dos países signatários da iniciativa Europeia de 1 Milhão de Genomas (1+MG) participaram nesses eventos, alguns dos quais apresentaram as respetivas iniciativas nacionais para a medicina genómica. Estas visitas promoveram uma discussão aberta sobre os pontos chave para a implementação sustentável da medicina genómica nos serviços de saúde nacionais. Com base nas boas práticas apresentadas, e em exemplos reais dos países anfitriões, produziu-se um Policy Brief, intitulado "Genomics in Healthcare: key issues for implementation", que compila recomendações em áreas essenciais à implementação sustentável da medicina genómica nos sistemas de saúde Europeus, nomeadamente: (i) o envolvimento dos cidadãos e dos doentes; (ii) as infraestruturas e regulamentação necessárias na prática clínica; (iii) a formação e capacitação de profissionais de saúde; (iv) a construção de um ecossistema sustentável baseado em sinergias entre sistemas de saúde, investigação e indústria.
- A Roadmap for Genomics in HealthcarePublication . Lopes, Fátima; Costa, Alexandra; Cardoso, Maria Luis; Fonseca, Raquel; Konopko, Melissa; Merchant, Arshiya; Custers, Ilse; Scollen, Serena; Vicente, Astrid MouraNo âmbito do projeto Europeu B1MG, WP5, o INSA coordenou o desenvolvimento de um playbook intitulado "A roadmap for genomics in healthcare" que reúne informação útil aos sistemas de saúde que pretendam implementar a medicina genómica. Suportado pelo MLM, o playbook propõe um conjunto de passos sugeridos para que esta implementação seja mais fácil e eficiente. Este documento constitui a versão atual do playbook, que se pretende, no futuro, seja atualizado com os mais recentes avanços e inovações nas várias áreas essenciais à medicina genómica.
- A scoping review of the assessment reports of genetic or genomic tests reveals inconsistent consideration of key dimensions of clinical utilityPublication . Pezzullo, Angelo Maria; Gris, Angelica Valz; Scarsi, Nicolò; Tona, Diego Maria; Porcelli, Martina; Di Pumpo, Matteo; Piko, Peter; Adany, Roza; Kannan, Pragathy; Perola, Markus; Cardoso, Maria Luis; Costa, Alexandra; Vicente, Astrid M.; Reigo, Anu; Vaht, Mariliis; Metspalu, Andres; Kroese, Mark; Pastorino, Roberta; Boccia, StefaniaObjectives: Genetic and genomic tests are the cornerstone of personalized preventive approaches. Inconsistency in evaluating their clinical utility is often cited as a reason for their limited implementation in clinical practice. Previous reviews have primarily focused on theoretical frameworks used for clinical utility evaluations of genetic tests, rather than actual assessments and examined dimensions, rather than specific indicators within these dimensions. We aimed to review the dimensions and the specific indicators measured in published assessment reports of genetic or genomic tests. Study design and setting: We conducted a scoping review of assessment reports of genetic and genomic tests used for prevention, searching through PubMed, Web of Science, Scopus, the websites of 20 different organizations, Google, and Google Scholar. From the included assessments, we extracted the reported indicators of clinical utility, compiling a list of disease-specific indicators that detailed their numerator, denominator, and calculation methods. We analyzed the extracted indicators by stratifying them according to ten comprehensive dimensions of clinical utility, the assessment framework used, and the type of indicator (categorized as quantitative, qualitative, reference, or no evidence reported). From these indicators, we then distilled a list of general indicators. Results: We reviewed 3054 unique references and 12,000 results from gray literature searches, ultimately selecting 57 assessment reports. The reference frameworks used were health technology assessment (HTA) (42%), Evaluation of Genomic Applications in Practice and Prevention (EGAPP) (25%), ACCE (21%), and others (12%). We identified 951 disease-specific indicators. The dimensions most frequently evaluated (ie, had at least one indicator) were analytic validity (60%), clinical validity (79%), clinical efficacy (79%), and economic impact (58%). Only 12 assessments compared health outcomes between tested and untested groups, and fewer than 15% of the assessments addressed equity, acceptability, legitimacy, and personal value. Conclusion: Our study illustrates that, although dimensions such as equity and acceptability, are significantly emphasized in traditional evaluation frameworks, these are often not considered in the assessments. Additionally, our study has underscored a significant dearth of reported primary evidence concerning the clinical efficacy of these tests.
- Variações genéticas a sua utilidade na terapêutica personalizadaPublication . Cardoso, Maria LuisI-Introdução Glossário Projeto Genoma Humano O Futura do Medicina A revolução genética A Medicina personalizada II-Farmacocinética e farmacodinâmica Farmacogenética e farmacogenómica (PGx) Exemplos de genes codificantes para CYPs, transportadores, receptores, HLAs. III-Variantes genéticas determinants do sucesso da terapêutica 1. RAM Codeína (CYP2D6) 2. Tratamento Fibrose quística (CFTR) 3. Hipersensibilidade ao Abacavir 4. Tratamento da HF 5. Tratamento do cancro do Pulmão 6. Terapia génica somática - amaurose congénita de Leber IV-Projeto Europeu de PGx – UPGx Video V- Farmacêuticos e farmacogenómica