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1.
Nature ; 586(7831): 683-692, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33116284

RESUMO

Starting with the launch of the Human Genome Project three decades ago, and continuing after its completion in 2003, genomics has progressively come to have a central and catalytic role in basic and translational research. In addition, studies increasingly demonstrate how genomic information can be effectively used in clinical care. In the future, the anticipated advances in technology development, biological insights, and clinical applications (among others) will lead to more widespread integration of genomics into almost all areas of biomedical research, the adoption of genomics into mainstream medical and public-health practices, and an increasing relevance of genomics for everyday life. On behalf of the research community, the National Human Genome Research Institute recently completed a multi-year process of strategic engagement to identify future research priorities and opportunities in human genomics, with an emphasis on health applications. Here we describe the highest-priority elements envisioned for the cutting-edge of human genomics going forward-that is, at 'The Forefront of Genomics'.


Assuntos
Pesquisa Biomédica/tendências , Genoma Humano/genética , Genômica/tendências , Saúde Pública/normas , Pesquisa Translacional Biomédica/tendências , Pesquisa Biomédica/economia , COVID-19/genética , Genômica/economia , Humanos , National Human Genome Research Institute (U.S.)/economia , Mudança Social , Pesquisa Translacional Biomédica/economia , Estados Unidos
2.
Perspect Biol Med ; 61(4): 572-583, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30613039

RESUMO

This article traces the emergence of lean principles in genomics research and connects this new way of doing science with many of the current pitfalls of precision medicine in its attempts at improving population health outcomes. Precision medicine has a history of public funding, yet the benefits in clinical settings are very slowly being realized due to a variety of factors, such as uncertainty regarding relevant treatments after identifying disease risk, lack of cost-effectiveness studies for general population-level interventions, and letting a culture of "over promise and under deliver" permeate some areas of genomics research. The article concludes with insights into the challenges and opportunities that will need careful consideration and consultation with the wider society in order to decide whether to turn off the "tap" for investment of public funds in research on genomics and other "omics." Ultimately, this article argues for a moderate course correction in how public funds are invested to truly improve the health of all of us, and not just some of us.


Assuntos
Genômica/economia , Medicina de Precisão/economia , Saúde Pública , Análise Custo-Benefício , Testes Genéticos/economia , Genética Médica/economia , Genômica/tendências , Projeto Genoma Humano , Humanos , Marketing de Serviços de Saúde , National Human Genome Research Institute (U.S.)/economia , Medicina de Precisão/métodos , Pesquisa Translacional Biomédica/tendências , Estados Unidos
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