Should I sequence my genome?

Over the last four-five years I have had the pleasure of giving talks about nano technology advances, specifically the very interesting research from IBM on the "DNA transistor"

The IBM DNA transistor

(ref article in NY Times from October 5, 2009) and its prediction of being able to sequence an individual persons genome for a cost of only $1000.
Just in case this does not sound too exciting for every reader, I need to take you back a very few steps to make sure you understand why this is actually is an important and exciting (?) message and technology and why you should be concerned and take a stand!

Every cell in a human body consists of 46 chromosomes that all contains strains of our DNA (thus all we need is a minuscule drop of saliva or even just a skin cell to read your DNA). As we all know the DNA is a double helix that appears like a twisted "ladder" with "steps", each of the steps consists of two different chemicals (base pairs) binded together and forming the "step" on the "ladder".
These two chemicals are either Adenine, Thymine, Cytosine or Guanine, shortened ATC and G. Interestingly is that Adenine (A) always binds to Thymine (T) and Cytosine (C) always to Guanine (G), thus if you "tear apart" the strands leaving behind only one side of the "ladder" and only one of the two chemicals building the "step" on the "ladder", you can actually discard the other side of the "ladder" without loosing any information because you only need to find out (identify) the single chemical as if that is an A we would know for certain that the discarded step of the "ladder" contained a T, and vice versa. The principle of the IBM DNA transistor is actually to read only one strand of the DNA by recognising the very faint electrical signal of each of the four chemicals and thus by reading all the strands in a sequence we will be able to sequence a complete genome which is a sequence of AATTGCATGGACTA....we are talking about an unique sequence of 5.3 billion steps (base pairs) that comprises your unique genome.

But hold your breath, out of your complete genome only about 2% is your genes, our exome. A human have about 20-25.000 genes that constitutes our exome, the rest is "junk" DNA (about 98%). Each gene consist of about 20-25.000 steps (base pairs), the longest is about 2 million base pairs long. These genes and their base pair sequence (ATCG) constitutes the recipe for a specific protein.

More fascinating metrics, all humans shares 99,8% of their genes and we share 90% with a banana! Also, the larva and the butterfly share 100% of the DNA, but recent research tells us that the human exome actually changes over its life cycle. As each cell in the human body is holding our entire genome and is being replicated over a periode of 7-10 years, its only "natural" to expect that during this process, from time to time, something goes wrong, this is what causes mutations. But also recent research (epigenetics) tells us that both environment and your lifestyle may introduce mutations, thus identical twins are not identical over the years as they typically are inclined to be exposed to different environments and lifestyle.

Now we are at the core of this story as we know that the genes are being inherited by our children, 50% from each parent and thus each one of us has 50% of the genes from our parents and what has the history told us about illness and traits we have inherited from our parents? Some are visible, like eye colours, but others are pretty serious:

• Huntington's disease (dominant mutation on chromosome 4)
• Cystic fibrosis (recessive mutation on chromosome 7) 
• A mutation on chromosomes 2 can provide colon cancer ...
• FTO gene on chromosomes 16 and increased risk of being overweight.
• BRCA1 can show weather a patient is predisposed for breast and ovarian cancer

My point is that some of our inherited mutations and defects are important to be aware in order to take preventive measures (like BRCA1), others are only dispositions and may not have an effect at all, but would you still like to know? Would you like to have your entire "book of life" printed so that you get a full view of all your traits and dispositions?

Even though the IBM prediction of sequencing your entire genome for $1000 has not yet come true, the cost being charged by multiple commercial labs are on a level that most people can afford, would it not be great to have all this information available for your doctor's insight into what can be expected in terms of future serious disease - is that what we want?

What about if your genome gets astray - that your  insurance company or even your employer gets information about a disposition that is not giving you the same life expectancy as the "common man"?
Does everyone have a clear opinion about the use of their genome - and what about the authorities - have they regulated who can use what? We know the police uses DNA to identify criminals, but that is, as of today, only part of the junk DNA that possibly cannot be used for any other purposes than unique identification.

If you sequence your DNA, would you share all the info with your children? They have, after all, inherited 50% and thus have inherited some of your potential dispositions for serious diseases. There are multiple ethical challenges and implications, for instance, if you give your genome to some "innocent" research project that anonymize all the samples (at least that is what they tell you) and the researcher finds out that your genome exposes a serious disease - should the researcher go back and warn you to make sure it does not kill you? After all, the fact that the genome has been anonymized does not prevent the researcher to find out it is you as one cannot anonymize something that is unique? If we have a database with genomes you will be able to search and compare and find the owner provided the owner is already in the genome database.

It is a bit of a surprise that we actually dont have much of a public debate on this very essential and important subject! There are lots of debates around cyber security and protection of your internet id's, but what about your unique genome - you cannot have a new genome just because someone has misused your genome and the information therein! We all need to make sure that the information we are disclosing when we let the hospital sequence our genome for the good purpose of pro-active medications and treatments of inherited disposition for serious diseases stays protected and is not being misused for other purposes!
We all want to make the gene-sequencing a success as it brings a lot of great opportunities to a better health for all of us, its just that we also need to have the process and access regulated to avoid misuse!

References:
http://www.nytimes.com/2009/10/06/science/06dna.html?_r=0 
http://www.scientificamerican.com/article/whole-genome-sequencing-predict-disease/ 
http://functionalbio.com/web/services-dna-sequencing.php?gclid=CMn9tsLjkb4CFQTbcgodJG4AXQ 
http://www.theguardian.com/science/2013/jun/08/genome-sequenced