Essays on Science and SocietyGenome-Sequencing Anniversary

Personal Genomes: For One and for All

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Science  11 Feb 2011:
Vol. 331, Issue 6018, pp. 690
DOI: 10.1126/science.1202811

Thanks to immense technological improvements in the 10 years since the draft of the first human reference genome was published, we are now seeing the dawning of the personal genomics era. Breakthroughs in medical genomics and genomics-guided medicine allow ever deeper interpretation and application of the information contained in a personal genome. The accumulation of individual genomes with clearly documented phenotypes that are available for research significantly facilitates such breakthroughs and discoveries. This virtuous circle is likely to spin faster in the coming years.

Although the benefits of a personal genome for the owner are clear, profiling everyone's DNA is mutually beneficial, acting with a strong network effect. Human populations are largely phylogenetically related as a result of recent population explosion. Considering that any two of us have common ancestry back to a certain point, people nearly always share a significant fraction of genetic variation sites and allele types. Therefore, the health profile and personal genetic information of one individual will, to a certain extent, provide clues to better understand other's genomes and their medical implications. In this sense, a personal genome is not only for one, but also for all humanity.

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