The era of precision medicine and its impact on nursing: paradigm shifts? - Revista Brasileira de Enfermagem
Revista Brasileira de Enfermagem. 07-28-2021;74(5):e740501
The large investment and development of research in genomics and molecular biology in the last two decades, especially after the conclusion of the Human Genome Project (HGP), has generated many expectations regarding its impact on the transformation from the conventional medicine paradigm to the precision medicine paradigm(–). The term precision medicine (PM) was used for the first time in 2011 in a report by the National Academy of Sciences of the United States, which proposed the bases for the elaboration of a new taxonomy of diseases based on molecular biology approaches. In the document, the term is used as a synonym for personalized medicine. The definition in the American document, Precision Medicine Initiative, is also not very different from the way personalized medicine has been conceived: “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person”().
If, on the one hand, the completion of HGP enabled the sequencing of the human genome, substantially assisting in research and clinical practice in various areas of health, on the other hand, it did not meet all the propagated expectations that the benefits would be immediate and that would lead to the cure of several genetic diseases, in addition to there would be a great advance in biomedical research. In fact, there was a huge advance in terms of research, especially in the field of molecular biology, which allowed for a better understanding of the human genome, particularly regarding the structure and functioning of the genome, which culminated in the complete sequencing of this structure for the human species(–). However, the researchers concluded that, in isolation, genetic mapping and gene identification (structural genomics) would not explain most of the biological mechanisms, frustrating the initial expectation of definitively unveiling the causes of diseases and their ways of prevention. Thus, the challenge became to find possible correlations between the structure and function of each gene (functional genomics), which started the so-called “post-genomic era” (PGE)(–). The PGE started two decades ago and, since then, sequencing equipment and techniques have evolved rapidly, in order to lower the cost of analysis and drastically reduce the time required for sequencing a complete genome(). For instance, with the launch of the second generation of sequencing in 2008, known as Next Generation Sequencing (NGS), a reduction in the cost of genome mapping and its introduction into clinical practice was made possible(). The new sequencers provide a fast, low-cost platform, far surpassing in efficiency those traditional sequencing technologies developed in the 1970s. The great advance offered by NGS is its ability to produce and process a huge volume of data in an increasingly fast, cost-effective and accurate way, allowing the understanding of the disease at the molecular level, increasing the effectiveness of diagnosis and treatment of various complex multifactorial diseases().
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The large investment and development of research in genomics and molecular biology in the last two decades, especially after the conclusion of the Human Genome Project (HGP), has generated many expectations regarding its impact on the transformation from the conventional medicine paradigm to the precision medicine paradigm(-). The term precision medicine (PM) was used for the first time in 2011 in a report by the National Academy of Sciences of the United States, which proposed the bases for the elaboration of a new taxonomy of diseases based on molecular biology approaches. In the document, the term is used as a synonym for personalized medicine. The definition in the American document, Precision Medicine Initiative, is also not very different from the way personalized medicine has been conceived: “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person”().
If, on the one hand, the completion of HGP enabled the sequencing of the human genome, substantially assisting in research and clinical practice in various areas of health, on the other hand, it did not meet all the propagated expectations that the benefits would be immediate and that would lead to the cure of several genetic diseases, in addition to there would be a great advance in biomedical research. In fact, there was a huge advance in terms of research, especially in the field of molecular biology, which allowed for a better understanding of the human genome, particularly regarding the structure and functioning of the genome, which culminated in the complete sequencing of this structure for the human species(-). However, the researchers concluded that, in isolation, genetic mapping and gene identification (structural genomics) would not explain most of the biological mechanisms, frustrating the initial expectation of definitively unveiling the causes of diseases and their ways of prevention. Thus, the challenge became to find possible correlations between the structure and function of each gene (functional genomics), which started the so-called “post-genomic era” (PGE)(-). The PGE started two decades ago and, since then, sequencing equipment and techniques have evolved rapidly, in order to lower the cost of analysis and drastically reduce the time required for sequencing a complete genome(). For instance, with the launch of the second generation of sequencing in 2008, known as Next Generation Sequencing (NGS), a reduction in the cost of genome mapping and its introduction into clinical practice was made possible(). The new sequencers provide a fast, low-cost platform, far surpassing in efficiency those traditional sequencing technologies developed in the 1970s. The great advance offered by NGS is its ability to produce and process a huge volume of data in an increasingly fast, cost-effective and accurate way, allowing the understanding of the disease at the molecular level, increasing the effectiveness of diagnosis and treatment of various complex multifactorial diseases().
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