Ruta genomica

PERSPECTIVA

doi:10.1038/nature09764

Charting a course for genomic medicine from base pairs to bedside

Eric D. Green1, Mark S. Guyer1 & National Human Genome Research Institute*

Ha habido mucho progreso en genómica en los diez años desde que una secuencia del bosquejo del genoma humano fue publicada. Las oportunidades para la salud y la enfermedad de comprensión son sinprecedentes ahora, como los avances en genómica se enjaezan para obtener conocimiento fundacional robusto sobre la estructura y la función del genoma humano y sobre las contribuciones genéticas a la salud humana y a la enfermedad. Aquí articulamos una visión 2011 para el futuro de la investigación de la genómica y describimos la trayectoria hacia una era de medicina genomic.

S
ince the end of the HumanGenome Project (HGP) in 2003 and the publication of a reference human genome sequence1,2, genomics has become a mainstay of biomedical research. The scientific commu-
nity’s foresight in launching this ambitious project3 is evident in the broad
range of scientific advances that the HGP has enabled, as shown in Fig. 1 (see rollfold). Optimism about the potential contributions of genomics forimproving human health has been fuelled by new insights about cancer4–7, the molecular basis of inherited diseases (http://www.ncbi.nlm.nih.gov/ omim and http://www.genome.gov/GWAStudies) and the role of structural variation in disease8, some of which have already led to new therapies9–13. Other advances have already changed medical practice (for example, micro- arrays are now used for clinicaldetection of genomic imbalances14 and pharmacogenomic testing is routinely performed before administration of certain medications15). Together, these achievements (see accompanying paper16) document that genomics is contributing to a better understanding of human biology and to improving human health.
As it did eight years ago17, the National Human Genome Research Institute (NHGRI) has engaged thescientific community (http://www. genome.gov/Planning) to reflect on the key attributes of genomics (Box 1) and explore future directions and challenges for the field. These discus- sions have led to an updated vision that focuses on understanding human biology and the diagnosis, prevention and treatment of human disease, including consideration of the implications of those advances for society (butthese discussions, intentionally, did not address the role of genomics in agriculture, energy and other areas). Like the HGP, achieving this vision is broader than what any single organization or country can achieve— realizing the full benefits of genomics will be a global effort.
This 2011 vision for genomics is organized around five domains extend- ing from basic research to health applications(Fig. 2). It reflects the view that, over time, the most effective way to improve human health is to understand normal biology (in this case, genome biology) as a basis for understanding disease biology, which then becomes the basis for improving health. At the same time, there are other connections among these domains. Genomics offers opportunities for improving health without a thoroughunderstanding of disease (for example, cancer therapies can be selected based on genomic profiles that identify tumour subtypes18,19), and clinical discoveries can lead back to understanding disease or even basic biology.
The past decade has seen genomics contribute fundamental knowledge

quickly. Although genomics has already begun to improve diagnostics and treatments in a few circumstances,profound improvements in the effectiveness of healthcare cannot realistically be expected for many years (Fig. 2). Achieving such progress will depend not only on research, but also on new policies, practices and other developments. We have illu- strated the kinds of achievements that can be anticipated with a few examples (Box 2) where a confluence of need and opportunities should lead to major...