Genome Data Suppliers

When will you decide it is time to give a spit?

It will not take too much effort.  You order a kit, contributed a batch of spittle into a receptacle cup, then send it away for DNA analysis.

The most common utility format for this type of DNA testing is ancestry analysis:

imagecredit: Molly K. McLaughlin for PC Reviews Magazine

Ancestry determinations have been the mainstay for early adoption of DNA sequence analysis technology.  Health testing has lagged, primarily due to regulatory concerns, but with the viewpoint starting to support the individual’s right to know, more people are getting DNA analysis for health impact profiling.  The conservative path to recommend in obtaining health-related DNA information is to consult a doctor. And then perhaps guide them to the service you seek.  Many providers may not be up to speed and you will be helping them navigate the path to preventative genomics utilization in their patient populations.  Be pleased when they respond that this is interesting, but they would like for you to consult with a genetic counselor prior to and after the data comes in.

Direct to Consumer

For the highly adventurous of us who want more than ancestry, you can follow the path taken by Tom Petch at Medgadget. In a detailed story of his endeavor to uncover his preventative genomics potential, Tom used whole-genome analysis kits supplied by Dante. He obtained close to 1 Gig of raw data files and a detailed report covering a range of dispositions. He found out some intriguing idiosyncrasies explaining his predilection to coffee. This was followed by the more puzzling finding of having variants that both increase and decrease his risk of Alzheimer’s.

Having the raw data files is highly intriguing to me.  There is a treasure trove of information in there that will only be released as time ticks away and our understanding of disease biology increases.  Some providers such as Helix offer a plan where you can park your DNA files with them and they will periodically “auto update” you as variant biology upgrades become available.  Veritas is another company offering whole genome analysis but it is not clear from their website I will be handed my VCF files on a flash drive. 

For me, I want to keep the adventure to be heavily under my control.  I want access to the raw data.   I want to identify and catalog the full depth of my variant profile. The variations that don’t fit the norm are likely to number in the 1000’s, and perhaps 10,000’s if we include non-coding.  To get some of my answers on variant pathogenicity, I will use NIH’s Variation Viewer. This will allow me to get many of my variants understood for their significance.  The ClinVar Miner and SNPedia databases might be referenced also if a novel variant is in question.  Another profoundly interesting tool when you are searching for information on a specific variant is Mastermined by Genomenon.  And for even greater detail, I may reach out to my Human Genetics contacts who will have unique insights and database access to get me even greater resolution.  Where I might find some variants are binning to the Uncertain Significance category, I might be motivated enough to make an animal model with the variant in question installed.  With the resulting variant avatar created as an animal model, I will then start a set of functional assays to see if my variant of uncertain significance exhibits a certain significant deviation of function.

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