10 FEBRUARY 2011 | Eric D. Green1, Mark S. Guyer1 & National Human Genome Research Institute*
The article "Charting a Course for Genomic Medicine from Base Pairs to Bedside" by Eric D. Green, Mark S. Guyer, and the National Human Genome Research Institute (NHGRI) outlines the progress and future directions of genomics research. Since the publication of the draft human genome sequence in 2003, genomics has become a cornerstone of biomedical research, contributing to a deeper understanding of human biology and disease. The NHGRI has engaged the scientific community to reflect on the key attributes of genomics and explore future directions, leading to an updated vision for the field.
The vision is organized around five domains: understanding human biology, diagnosing and preventing diseases, and improving treatments. These domains are interconnected, with genomics offering opportunities to improve health without a thorough understanding of disease, and clinical discoveries leading back to understanding disease and basic biology. The article emphasizes the need for comprehensive catalogues of genomic data, including genetic variation, functional elements, and other biological molecules, to enhance research capabilities.
Technology development has been crucial in advancing genomics, but challenges remain, such as the need for high-throughput, low-cost data production and the ability to sequence complex genomic regions accurately. The article also highlights the importance of bioinformatics and computational biology, education and training, and the societal implications of genomics research.
The authors discuss the imperatives for genomic medicine, including making genomics-based diagnostics routine, defining the genetic components of diseases, and comprehensive characterization of cancer genomes. They emphasize the role of genomics in understanding the biology of disease, both genetic and non-genetic, and the need for effective public participation and trust in genomics research.
The article concludes by addressing the societal implications of genomic advances, including psychosocial and ethical issues, legal and public policy considerations, and broader societal issues such as health disparities and the reduction of health disparities. It underscores the importance of evidence-based practices and the need for regulatory policies that enhance the public benefit of genomics while protecting against misinformation and inaccurate claims.The article "Charting a Course for Genomic Medicine from Base Pairs to Bedside" by Eric D. Green, Mark S. Guyer, and the National Human Genome Research Institute (NHGRI) outlines the progress and future directions of genomics research. Since the publication of the draft human genome sequence in 2003, genomics has become a cornerstone of biomedical research, contributing to a deeper understanding of human biology and disease. The NHGRI has engaged the scientific community to reflect on the key attributes of genomics and explore future directions, leading to an updated vision for the field.
The vision is organized around five domains: understanding human biology, diagnosing and preventing diseases, and improving treatments. These domains are interconnected, with genomics offering opportunities to improve health without a thorough understanding of disease, and clinical discoveries leading back to understanding disease and basic biology. The article emphasizes the need for comprehensive catalogues of genomic data, including genetic variation, functional elements, and other biological molecules, to enhance research capabilities.
Technology development has been crucial in advancing genomics, but challenges remain, such as the need for high-throughput, low-cost data production and the ability to sequence complex genomic regions accurately. The article also highlights the importance of bioinformatics and computational biology, education and training, and the societal implications of genomics research.
The authors discuss the imperatives for genomic medicine, including making genomics-based diagnostics routine, defining the genetic components of diseases, and comprehensive characterization of cancer genomes. They emphasize the role of genomics in understanding the biology of disease, both genetic and non-genetic, and the need for effective public participation and trust in genomics research.
The article concludes by addressing the societal implications of genomic advances, including psychosocial and ethical issues, legal and public policy considerations, and broader societal issues such as health disparities and the reduction of health disparities. It underscores the importance of evidence-based practices and the need for regulatory policies that enhance the public benefit of genomics while protecting against misinformation and inaccurate claims.