A magnifying look at your genes

I have always been intrigued by the extensive complexity which lies within us. Organs, circulation, waste disposal, metabolism, and tissues all function together. The smallest unit of life is the individual cell, with each housing their own set of DNA. DNA is the instruction book which makes every part of the body, every cell, and every protein. It is a stable molecule that exists in every living organism.

In 2003, Craig Venter announced to the world the he and his team had succeeded in mapping out the entire human genome. From his efforts, it was found that humans only have 20,000-25,000 functional genes, which was a surprise to all. To better understand human genome sequencing, refer to this video (How to sequence a Genome: An introduction).

My topic today is not to give a history of sequencing methods or even to explain the molecular dynamics of such an enterprise. Rather, I would like to introduce the idea of personalized genome sequencing and genetic testing. I was browsing Scientific American, and found this article: The $1,000 Human Genome: Are We There Yet?. Life Technologies, a biotech company in California has announced that they are creating a new machine that will be capable of sequencing an entire human genome in one day for the premium price of $1000 (Of course we are talking about a sequencer machine here, not a personalized genome service. However, such a machine could make personal sequencing more popular and affordable). The sequencer machine, called The Ion Proton, will cost $149,000 with an additional $95,000 for a server and a prep service. This is actually very affordable, since biotech equipment can range into the millions.

With sequencing machines becoming more efficient and affordable, personalized sequencing will also continue to expand. Why on earth should you consider getting sequenced? Because your data will give you markers for genes associated with diseases. For example, you may find you have a marker for diabetes or even a predisposition for breast cancer. Where can you have this done? The company 23andMe offers two branches of DNA genotyping: one for ancestry and one for health. A kit can be obtained for $99 and all it requires from you is your spit and cheek cells from a simple mouth swab. I am very inclined to have this done, just to see what is in my genes.

Ancestry is also a popular sequencing option. FamilyTreeDNA allows you to follow your matrilineal side with mitochondrial DNA sequencing and your patrilineal side with Y-chromsome DNA sequencing. Kits range from $159-289. The National Geographic Genographic project had a similar objective. It sequences your mitochondrial DNA and places your migration out of Africa into distinct lineages (This being an example of the study of population genetics). This kit is also $99, and makes a great present for science nut in the family.

I am now sure that you are ready to jump onto one of these website and enthusiastically spit in a vial to take a look at the code manual that is your DNA. I certainly would, which is all part of a Biologist's Madness.

~LD