A nova fronteira da inovação na saúde do Brasil: uma estratégia nacional de medicina genômica e saúde de precisão

Abstract

In the early 21st century, the sequencing of the first human genome was completed, giving rise to genomic medicine and precision health. In the last decade, several nations have implemented initiatives, programs, or policies in this new field, fostering technological innovations and preparing their healthcare services. In 2020, the Ministry of Health introduced the Genomes Brazil Program. However, compared to international processes, limitations have been observed in delivering precision health in the country. Consequently, the main goal of this study was to propose an improved legal and institutional framework and a national governance model for genomic medicine and precision health. Methodologically, this is a qualitative, applied research with an exploratory and descriptive approach. In terms of procedures, a comprehensive literature review was conducted on genomic medicine and precision health. Additionally, a bibliographic review covered legal and institutional arrangements related to public governance and public policies, alongside documental and participant research on the Genomes Brazil Program. The results include the presentation of concepts and objectives of the study object, along with a mapping of international initiatives, identifying and categorizing the primary challenges and barriers to their successful implementation. Upon analyzing the Brazilian scenario and comparing Genomes Brazil to recommendations for good governance and management practices in public policies, it was noted that, beyond scientific, technological, and logistical challenges for its execution, the constitutive normative act of the Program exhibits weaknesses and limitations. In light of this context, a proposal for implementing a national strategy in Brazil was outlined and presented. Considering the processes and cycles involved in designing and developing public policies, and ensuring the participation and legitimacy of stakeholders, it is concluded that establishing a national policy is imperative. In terms of its legal framework, it is inferred that enactment through federal law, in accordance with the principle of the primacy of the law and due legislative process, would provide legal certainty to the policy. Furthermore, following international precedents, the opportune creation of a specialized public reference center is recommended. This center’s responsibilities would include large-scale genomic sequencing, as well as the storage and curation of genomic and clinical data in a suitable database. The creation of a national governance body and specific, inclusive institutional arrangements for societal sectors are deemed indispensable for coordinating stakeholders and managing the processes and initiatives to be implemented. Hence, a proposal is made for the establishment of a national council, serving as a participative and deliberative collegial body with representation from government agencies, civil society, academia, industry, and the private sector. This governance mechanism would be tasked with aligning actions for the development of the entire ecosystem of genomic medicine and precision health, covering the seven proposed structuring axes: science, technology, and innovation; the health-industrial complex; precision health service management; education in genomic medicine and precision health; infrastructure and management of genomic and clinical data; national infrastructure in precision health services; and financing and public-private partnerships.