Personal genetic curiosity

13 October 2007

Ever been curious of the secrets hidden within your genetic composition? Wondering what inherited traits you have that you are not already aware of? Be more aware of the likely conditions that you’re susceptible to? Consider the implications such information will have on insurance policy and employment?

As a scientist, I’d love to delve into this. To get my own personal genome sequenced. Pick apart little things that may be there. Compare myself, genetically of course, to other individuals. This is truly when we get to see how uniquely different everyone can be. The range of genes we code for may be similar but there are always mutations and polymorphisms that render us “unlike the others”.

At personal level though, I am as yet undecided. I already know that I have a condition that is currently unexplained genetically. Perhaps there aren’t enough cases for large gene association studies to be carried out. Some of the journals that I have found so far related to this condition had been focused on explaining the condition based on observation of a single patient, or two. Others spoke more of procedures to help “normalise” the lives of the patients. There is no cure.

When the Personal Genome Project was announced, I did, for a moment, considered participating. Afterall, I fit the criteria and I am aware of the implications of volunteering in such a study. It would also be of benefit scientifically to researchers, of which I am member of this community. My concern was that I don’t live in the US, nor am I an American citizen. The law that is in place to protect data misuse and discrimination may not apply to me since I am outside the jurisdiction. Moreover the blood works etc would be done in Boston – not exactly a short car ride away for me either.

Right now, the scientific community awaits for the publication of data that came from 10 volunteers, one of whom even recently started a blog called the Genome Boy. Once published, biologists and geneticists can analyse phenotypic traits with genotypic sequences, or postulating theories that link medical conditions to genetic mutations, or work on the possibilities of personalising medical care. So much information to be released for use to various advantage.

I guess I am thinking about this because I’d like an answer one of these days – what is the genetic defect underlying my condition and is it inheritable?