Genomics, transcriptomics, proteomics – is it time for validomics?

Today we celebrate DNA day, which commemorates the publication of the structure of DNA in 1953¹. On this very day in 2003, the Human Genome Project (HGP) was completed, providing us with a reference sequence of the human genome². The draft sequence had been provided two years earlier, in 2001³^,⁴. Since the completion of the HGP, tremendous progress has been made in the field of genomics, but there is criticism that the anticipated benefits in improved human health have yet to be realized. Some have claimed that that the likely benefits of the HGP were initially exaggerated to obtain funding for the project.

We recognize that knowledge gained from the human genome has resulted in great advances in understanding its structure and function but only a small number of new therapeutic approaches, to date. But while overall it may have not yet provided the genomic revolution everyone expected, are we being short-sighted and not recognizing that the genomic revolution is, in fact, happening now?

Last year, for the 10-year anniversary of the draft sequence, the scientific community behind the achievement published a paper⁵ presenting an updated vision of the post-genomic era. In the paper, they reiterated that the human genome sequencing was just the beginning of a journey and not the end. In their updated genomics vision, the scientists outlined how the road to improved healthcare will be achieved through five distinctive steps: 1) understanding the structure of genomes 2) understanding the biology of genomes 3) understanding the biology of disease 4) advancing the science of medicine and, ultimately, 5) improving the science of healthcare.

We are currently in an era where we are starting to gain a better understanding of the biology of genomes and disease. The sequencing of the human genome has provided comprehensive resources for genomic data (which we will speak about in another blog post). In addition, the numerous "omics" fields that have appeared (transcriptomics, proteomics, and metabolomics, as well as many others) and systems biology are providing us with new ways to study living processes. Finally, the fundamental unit of the body is the cell, and it will be crucial for new methods to evolve that allow measurement of molecular events in single cells.

Isn’t it also time for "validomics," where scientists systematically validate the data and link them to phenotypes or clinical data? Isn’t it time that the scientific community departed from Eurocentric data for genetic analysis and adopted a more ethnic-specific approach to drug making? In order to continue discovering new processes (e.g., ncRNA) and their influence on and/or stratification of disease, don’t we need to ensure that we are building our scientific knowledge on the backbone of validated data?

For Affymetrix, the "Genome Generation" is the name we use for the current genomic revolution of which the whole scientific community and the public are a part. The purpose of the "Genome Generation" blog is to highlight technological and scientific advances of the post-genomic era; to discuss how these advances can help scientists to gain a better understanding of living processes; to discover how this knowledge relates to disease; and ultimately to explore how it can be used to create new drugs and new diagnostics.

We have started to hear from you at the Human Genome meeting (HUGO 2012) in Australia and the American Association for Cancer Research (AACR 2012) meeting in Chicago. The overwhelming responses are diverse, and here are just a few examples:

"…computational approach to studying the molecular mechanisms behind complex diseases…from genotype to a candidate disease gene"

"My Mom had stage III CKC cancer…she is cancer-free for 6 years!"

I will visit many of themes in our subsequent posts, but more importantly, I would like to hear from you. Therefore, do not hesitate to leave a comment and start a discussion on a topic you are passionate about.

Frank Witney

¹Watson J. D., Crick F. H. C. A Structure for Deoxyribose Nucleic Acid. Nature 171:737-8 (1953).
²International Human Genome Consortium. Finishing the euchromatic region of the human genome. Nature 431(7011):931-45 (2003).
³Lander E. S., et al. Initial sequencing and analysis of the human genome. Nature 409(6822):860-921 (2001).
⁴Venter J. C., et al. The Sequence of the human genome. Science 291(5507):1304-51 (2001).
⁵Green E.D., et al. Charting a course for genomic medicine from base pairs to bedside. Nature 470(7333):204-13 (2011).

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