A family affair, part 3: 100,000 genomes

Tuesday 5 December 2017

Yesterday I had blood taken to sequence my entire genome.

All 23 chromosomes.

All 20,000 genes.

All 3.2 billion nucleotide base pairs.

My entire DNA, the blueprint of what makes me unique, will be decoded and analysed.

I went for a routine check-up with The Professor and, given that my previous genetic tests, targeted at the most common mutations known to be associated with Parkinson’s, had come back negative, he put me forward for the 100,000 genomes project. 

Conveniently they were able to fit me in the same afternoon, and a helpful research assistant walked me through the project, including the inevitable questionnaire and consent form. It only took about half an hour.

The 100,000 genomes project is a flagship medical research initiative that was launched in 2012 by then Prime Minister David Cameron. It aims to build a database of around 75,000 people (for technical reasons some people are sequenced multiple times, hence 100,000 genomes) with rare diseases and certain cancers, or their close relatives. The database will then be used to identify genetic variations linked to the diseases and cancers.  They are up to over 40,000 genomes so far. 

The clever part is that, because this is done for NHS patients, they have (anonymised) access to all your medical records, both in the past and in the future, even after you die. So the project is also able to identify genetic links to things like reactions to medications, and correlations between seemingly unrelated conditions. 

I qualified for the project both because my Parkinson’s is familial and because it is young onset. I also referred my mother for testing and spoke to her about it later in the day.

Needless to say, genetics is a fascinating topic. As well as the science, there are the tricky ethical considerations. I will no doubt wax lyrical about it all another time, but for now I will just say I was pleased to take another step forward in understanding my disease.

It wasn’t all good news, however.

The Professor told me that it could take up to two years to get my results back, not because it takes that long to do the sequencing, but because of the specialist analysis that needs to be done of any interesting genetic anomalies.

As I’ve said before, the NHS is a wonderful institution - as long as you’re not in a hurry.