Discover the Science of Health
Ever since the human genome was sequenced in 2000, there’s been talk of a “$1,000 genome” — the ability to map an individual’s complete genome for one thousand U.S. dollars.
Life Technologies announced yesterday that it has achieved that milestone with the release of the new benchtop Ion Proton Sequencer, which is designed to sequence the entire human genome in a single day (existing DNA sequencing technologies take a week or longer) for $1,000 USD.
So-called “Frankenfood” — genetically-modified organisms meant for human consumption or use as animal feed — has been making headlines again. This time, the buzz is over the FDA’s recent completion of their evaluation of the first genetically-engineered (GE) salmon meant for human consumption, the AquAdvantage salmon. The White House’s Office of Management and Budget is now reviewing the evaluation, which puts the AquAdvantage salmon one critical step closer to finding its way into farms and onto plates. While the GE salmon would be the first genetically-modified animal approved for human consumption, it’s not the first genetically-modified organism (GMO) used for food; data from 2009 indicate that 93% of soy and cotton, and 86% of corn grown in the U.S. are GMO [1]. There are a number of other common GMO crops, and GMO rice will likely become available soon.
Biomarker Bulletin is an occasionally recurring update of news focused on biomarkers aggregated at BiomarkerCommons.org. Biomarkers are physical, functional or biochemical indicators of normal physiological or disease processes. The individualization of disease management — personalized medicine — is dependent on developing biomarkers that promote specific clinical domains, including early detection, risk, diagnosis, prognosis and predicted response to therapy.
Diagnostics used to select patients for treatment with a particular therapeutic or determine what and/or how treatment will be administered have been termed companion diagnostics. Companion diagnostics hold great promise for personalized medicine. A companion diagnostic is a biomarker(s) used in a specific context that provides biological and/or clinical information that enables better decision making about the development and use of a potential therapeutic. Given the significance of companion diagnostics, I’m proud to announce Biomarker Commons’ first media partnership with the 4th World Companion Diagnostics Summit.
Personalized medicine is a term used in science and medicine that holds significant promise of administering medicines specifically tailored to an individual’s genome or metabolism. However, an editorial published yesterday in the Canadian Medical Association Journal (CMAJ) suggests that the term creates an image for the public that is completely opposite of science and technology and sets up unrealistic expectations.
Regulators in the U.S. and Europe have each posted requests for public comment on issues affecting the development of medicines by drug companies.
The U.S. Food and Drug Administration (FDA) has issued new guidelines on biomarkers related to drug or biotechnology product development. The guidance was developed within the Efficacy Working Group of the International Conference on Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use (ICH).
In response to facial expression of emotional, a similar pattern of brain activity is observed in both people with autism and their unaffected siblings. Researchers from the University of Cambridge recently used functional magnetic resonance imaging (fMRI), a specialized MRI scan used to measure the change in blood flow related to neural activity in the brain, to show that reduced activity in areas of the brain associated with empathy and face processing is a candidate biomarker for familial risk of autism. The findings were published online recently in the journal Translational Psychiatry.
In January, we reported on the National Human Genome Research Institute (NHGRI) Vision to Move Genomic Medicine from Base Pairs to Bedside. Written by Eric D. Green, M.D., Ph.D., Director of the NHGRI, Mark Guyer, Ph.D., Director of the Division of Extramural Research and Acting Deputy Director of the NHGRI, and others at the NHGRI, the plan maps the next steps the field of genomic research must take to discover medical secrets hidden within the human genome and transfer them to physicians and patients [1].
Interestingly, the strategic plan really isn’t a strategic plan but a list of issues to be addressed. And on this note, Daniel MacArthur, a genomics researcher and author of Wired’s Genetic Future, found the NHGRI document frustrating to read [2]:
… this is an impressive, worthwhile and highly readable piece of work, but one that ultimately feels unfinished. As research dollars begin to get tighter, there is an urgent need for an actual strategic plan for building the resources and tools required to make genomic medicine a reality within a realistic budget.
In other words: a specific NHGRI funding plan to overcome the issues. This could prove difficult in the current U.S. fiscal environment. Even though President Obama has resisted cuts to biomedical research funding in his 2012 budget proposal, the outlook isn’t bright. Decreasing NIH funding for short-range budget goals will disrupt five-year-long longitudinal studies make it impossible to start new research [3]. Moreover, it will hurt U.S. standing as the world leader in biomedical advances.
A group of researchers led by scientists from the Virginia Bioinformatics Institute (VBI) at Virginia Tech have developed a new technology that detects distinct genetic changes differentiating cancer patients from healthy individuals [1]. The technology is described in a recent study published in the journal Genes, Chromosomes and Cancer and may one day serve as the basis for a cancer predisposition test.
