“So… One Can Have Their Complete Genome Sequenced…Should I?”

What ELSI is new (article)This commentary in the Genomics Law Report’s ongoing series What ELSI is New? is contributed by Patrice M. Milos, Helicos BioSciences Corporation.

I’ve had a fascinating time reading these posts and it has taken me awhile to articulate a question I imagine many of you might, or will, have. I believe the above question will be front and foremost on people’s minds in the next two to three years. As genome sequencing costs continue to fall dramatically, we will arrive at our end goal of the $1000 genome… or perhaps even $100… shortly.

Yet it is just this one question which raises many more ELSI questions.

First and foremost – do I have a right to my genome sequence?

I have a fundamental belief that the answer is a resounding yes. Why should I have to worry about whether I can obtain the sequence of genes that may actually prove important for key decisions for me as well as my family?

Once this question is answered a key question on my mind is how can I ensure my sequence is accurate? What is the standard that I am to accept if I am to make sense of my sequence? Who will be responsible for ensuring the level of acceptable accuracy?

In all honesty I am still grappling with this question – is one in a million, one in a billion error rate acceptable? What if my one error suggests a mutation in a cardiovascular gene which predisposes to myocardial infarction? What if the error is in a drug metabolism gene resulting in the inactivation one of the genes? What if the error is in BRCA1? If there were an area where regulations could actually prove important, the ability to ensure your sequence is accurate is key.

Let’s assume we obtain near flawless consensus accuracy – what decisions will I be able to make based on my individual genome variation?

We are at an early stage of making sense of the sequence of human genomes but the pace of knowledge is rapidly escalating. I remain confident as we accurately sequence hundreds to thousands of genomes that we will have a much better understanding of the unfolding story of our genome. This will come as the technological revolution around us continues.

Finally, how will I and my doctor use my genome to make my healthcare better?

This to me is the hardest question – sure we have examples but they haven’t touched me yet. Is our healthcare system ready to fully realize the value of our genome – not today, but let’s hope all our efforts will pave the way to the era of personalized healthcare.

I must say, I have not made my own decision whether or not I will sequence my genome and I am just not sure why I remain guarded. Perhaps those of you who know me might imagine that I would not want anyone to understand what secrets my genome holds and what it is that makes me unique… although as our technology matures at the same pace as our science I may just have to find out why as a female I am colorblind and why I have a funny toe and why I remain an eternal optimist. After all you still can’t fully understand a person by their genome sequence alone.

Good luck to each of you in making your personal decision in the years ahead. I’ll let you know when I am ready.

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