Monthly Archives: December 2012

My whole gene is going to be sequenced – well, maybe

I know this is really late, but at the end of October I finally had my appointment with the geneticist that will actually investigate the juicy details of my condition. It went well and they will be looking at my genes, first concentrating on the genes known to be mutated in people with similar less severe types of my condition and found in research conducted abroad.

This process is likely to take around six months to a year, but not because of a lack of technology, the lack of funds for the tests is the problem. In this case it is not paying for the actual tests but the NHS can’t pay for enough man hours for all the tests to be carried out, so I have joined a queue.

It is not definite that I will have the same mutated genes as other people have, due to rare nature of my specific condition, so it is quite likely that I will have my whole genome sequenced, all 20,000 genes. Now that is cool, they would be able to tell everything about me, but again this would take a while to happen. The test costs around £1,000 and can be done in a day but again it is finding a place for me in the schedule.

The main reason for having this done is to find out if any mutated genes I have are dominant or recessive. If dominant, the children will be next, to quote the Manics, but if recessive the chances of me passing it on to any children I might choose to have, would be minuscule. So it is pretty important and exciting that answers will be on the way. Well ‘on the way’ is a bit of an exaggeration, the appointment finished on, “if you haven’t heard from me within six months drop me an email to remind me”. Same shit, different day.