Genomics* & Personcentredness

Yesterday, I attended a lecture in the hospital. The two speakers, one from Leeds the other from Sheffield discussed the 100,000 Genome project.

I’d heard about Genomics prior to that talk, but never really understood what it was about. I likely now still don’t understand; I will try to impart what I heard…

Most of us will have heard of DNA. This is Deoxyribonucleic acid – the structure of which was described by Crick and Watson in the 1950’s. DNA consists of chemicals – cytosine, guanine, adenine and thymine which in various combinations results in everything that is life on earth.

When the chemicals arrange in a certain way, they create a gene which then provides a template for the creation of proteins. And, most of us, or at least, the interesting parts are proteins.

I may be wrong with this explanation; if there is anyone reading this who has a better grasp, please let me know. I am a talker and sensitivist of old people, not a biochemist.

Anyway,

The idea behind the Genome project is to sequence (see below) all the genes we have in our cells – most cells have nuclei which contain DNA – and the genes; some don’t, but we will leave that aside (I am not even going to consider Mitochondrial DNA which is a whole other area I don’t understand);

Each person has one, or sometimes two – if they have cancer, Genomes. Today, as I sit here, to the best of my knowledge, I have just one. I hope that there aren’t any rogue cells inside my body in the process of mutation – time will tell. If you have cancer, because this is caused by a change to your DNA – certain rogue genes replicate erroneously, faster or slower than they should, you then have two Genomes – the one you we born with and the one your now cancerous body-part possesses.

Sequencing the Genome, as I understand, is to somehow put the whole Genome (from a cheek swab or biopsied section of cancer, or abnormal blood cell), through a special computer which processes the chemicals and translates them into code which can then be analysed and interpreted.

For example, if I have a specific variant of say, lung cancer, there are likely to be changes in my Genome that will be found in someone else who has the same type of cancer.

What all this is getting to, which I found most interesting was the aspect of the project relating to personalised medicine – you see, currently we have quite a crude approach to disease – we consider everyone is the same.

My high blood pressure is the same as yours, is the same as 100,000 other people, when, we know that every person is unique – this is a form of person-centredness at the level of genes; which is kind of cool – PCC isn’t just clinical hippies saying so; the lab folk can prove it.

My high blood pressure will be caused by a host of environmental and genetic factors – as will yours, as to whether the genetic factors are the same, or similar, currently, we have no idea.

Equally if I have high blood pressure, my doctor is likely to prescribe an Ace Inhibitor, which we know works very well to sort blood pressure; it doesn’t work for everyone. We even know that certain ethnic groups – African Americans, South Asians have a propensity for specific patterns of blood pressure and diabetes, yet everyone is treated the same – 10mg of Ramipril, or as close to that dose as you can get without falling-over or your kidneys packing-in.

The idea of the personalisation aspect is to work-out which drug will work best for you or me, acknowledging that although we are all the same (sans passport & the right to free speech), the differences in the genes that contribute to our diseases can result in different responses to medicines.

The project is starting with people who have cancer – one day, if we get there, you are likely to see the doctor who will first tell you you have diabetes, refer to your Genome, then determine which specific medicine you should take; for some, that might mean happily living without medicines – for others, you might have to take more, but all in all, it should prevent the strokes, heart attacks and dementia that are the blight of being an older 21st Century human.

The scientists are starting with cancer – finding-out which cancers are caused by which genes – they might even, in time, have gene therapy which can mean that people will receive treatment to prevent them acquiring the cancer, dementia or motor-neurone disease they have inherited from their parents. (Unfortunately (fortunately?), most forms of dementia and MND are not genetic – so these treatments will have to wait longer to be solved.)

I don’t know if this has made the subject of Genomics clear. This is very far from my usual subject area, although I can’t say I wasn’t psyched by the notion that science is demonstrating which we all know in our hearts to be true – we are all unique, we are all precious with individual stories laid-down in our life history as much as in our genes.

Listen, learn, care and be kind.

To find-out more about Genomics, Yorkshire & the Humber – see here

Primula_aka

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