Genetics meeting

Today I had a meeting with a nice doctor from the Clinical Genetics Service. I was referred to them by my surgeon when I started asking questions about what caused my cancer, why I’d had it at an abnormally young age, and whether it might have been the result of some genetic factor. In particular, I wanted to understand whether:

  1. I might be predisposed to re-occurrences of this or other cancers,
  2. my brother might be predisposed to bowel cancer, and
  3. my children might be predisposed to bowel cancer.

In the latter cases I also wanted to know how I could get my brother and children identified for early screening programmes.

The result was a raft of forms to fill in, providing the clinical genetics team with my family history and details of any of my ancestors that had had any experience of cancer. Which in my case was easy – as far as I’m aware I’m the first person in my family to have had any sort of cancer.

Todays meeting was fairly quick, probably for the same reason; from my family history it looks unlikely that there is any genetic predisposition to cancer in my family. However, it is possible that I’m the first person in my family to have a genetic predisposition which I could then pass on to my children. So, the main reason for the meeting was to explain this to me, and request that I donate another couple of vials of blood, and agreement for the Genetic Services team to run some additional tests on my tumour.

As best as I could understand it, they are going to run two major tests:

  • a test on both my tumour and my blood. If the results are the same then it’s likely that I do have a genetic predisposition to this cancer. If the results differ then the tumour is likely to be the result of a local (environmental?) cellular mutation which then went on to grow into my tumour.
  • something related to “micro-satellites” and signs of “stuttering”. I really didn’t understand most of the explanation of this, but gathered that it involves the non-coding sections of my genes that relate to the expression of proteins defined by the coding sections of those genes. But my biology really wasn’t (and isn’t!) up to following the doctors brief explanation.

Fortunately it’s not necessary for me to actually understand all these things; they’ll run their tests and then come back to me with their best answers to my questions, which is what I wanted. Unfortunately that process could take up to six months, which seems like a long time, but I suspect there is quite a lot of work for them to do. Still, six months is perfectly acceptable, as this really isn’t an urgent issue – just an important one!

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One thought on “Genetics meeting

  1. Pingback: Genetic test results « Richard's Blog

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