The field of personalized information and genomic sequencing is growing at rocket speed with new information, translations and targets being identified it seems like almost daily  For a blast from the past, back in 2008 we were talking about an entire sequence costing 350k and now we may soon be seeing the cost go down to 2k or less soon.

Is a complete personal genome sequence worth $350,000?

If you are not real familiar with how some of this works relative to personalized medicine, check out the link below as there’s a video that uses some easy to understand layman’s terms that will bring you up to date. 

The Future of Personal Genomics

Devices are developing rapidly too and in this piece from MIT, the potential of carrying around a hand held device some day to sequence is one of the areas being pursued.  With sequencing we can accurately prescribe drugs that will essentially target specific diseases and know up front what potential side effects a patient may incur as well.  

Pacific BioSciences Announces a 15 Minute Genome Mapping for Less Than $1000 by 2013

Not too long ago, George Church also commented on how personal health records via Google Health and HealthVault from Microsoft are also helping with the growth of personalized medicine, patients become better informed for better decisions. 

George Church Says Microsoft and Google are Helping with the Growth of Personalized Medicine

Also, I believe Mr. Church is still looking for the next round of volunteers who would like to have their entire genome sequenced.  If one is selected, part of the deal is that your information becomes public knowledge.  You can read more at the link below and see what others who participated in the original project have to say.  BD

Personal Genome Project looking for next wave of volunteers for an entire sequencing

Turner also described two new applications for Pacific Biosciences sequencing machines: detecting methylation patterns and tracking protein translation. Methylation is a key measure in the fast-growing field of epigenetics, broadly defined as molecular changes that affect gene expression but not the DNA sequence itself. It is these changes that enable genetically identical cells to develop into both brain cells and blood cells and have been linked to learning, addiction, cancer and obesity among myriad other states. Methylation is one mechanism for changing gene expression, turning on and off certain genes. The Pacific Biosciences technology reads DNA sequence by detecting the addition of single bases onto individual DNA molecules. Scientists discovered that the time it takes for this base to be added depends on whether the molecule is methylated at that position, enabling detection of methylation patterns in real time.

In a second novel application, developed in collaboration with Joe Puglisi at Stanford University, scientists adapted the sequencing technology to observe the ribosome--the molecular machinery that translates RNA into proteins. The research was published today in the journal Nature. Initially, the technique will be used to study the process of translation. But Turner said it might one day be used to examine off-target effects of drugs, for example, by examining how a specific drug altered translation of non-target proteins.

Both Church and Turner touched on the next brass ring for genomics technologies; a handheld sequencing device. Church predicted a demonstration device within the next two years, settling on Ion Torrent as the most likely frontrunner. Turner predicted that the next generation of Pacific Biosciences sequencing machine could provide the basis for a handheld sequencer.

Technology Review: Blogs: TR Editors' blog: New Tricks for Genome Sequencing


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