Genetic test results

Back in November I wrote about an appointment that I’d had to discuss whether or not my cancer had a genetic constituent, and hence whether or not my children needed to be especially worried about contracting it too. Part of that appointment was to ask me to agree to have some tests run, which I did.

Those results turned up yesterday.

What they were testing for is a condition called hereditary non-polyposis colorectal cancer (HNPCC) which can be passed on genetically. And the good news is that it is unlikely (from the tests that they can run) that I have this, and therefore it’s unlikely that my children will be at an elevated risk of also contracting this cancer – at least not from this hereditary factor anyway.

So saying, they still recommend that because of the early age that I contracted this cancer at, my children should all be offered screening for bowel cancer from the age of 40 onwards. This would currently be done by colonoscopy, but of course, in 25 years time when my eldest reaches that age, there may be better ways. Let’s hope that by then they have less invasive treatments too.

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2 thoughts on “Genetic test results

  1. J is a bowel cancer patient. Her surgeon suggested that her twin brothers, in their mid-40’s, should see their GP to test for any genetic conditions. One brother was accepted for the test with no problems. The other brother, with a different GP, was told the test was unnecessary and needless. He returned with a copy of some letters from J’s consultant and was “grudgingly” recommended for the colonoscopy examination.
    Sometimes in the medical world you have to push, push, push! (And at childbirth, presumably).

    • I suspect that providing referrals to specialists costs the practice “money” that they could use on other things – so depending on the state of their budget, and the problems that that particular practice faces, they may or may not see that referral as a good use of the money. Of course, this is likely to mean that patients are not referred until their problems are acute, by which time treatment is likely to be more difficult, more expensive, and with a less good outcome for the patient. But in these days where accountants run the world, that doesn’t appear to be what is measured. I suspect it must be very frustrating for the specialist consultants, where an early diagnosis can make all the difference to their treatment options.
      And I agree; it’s sad but true that being informed and vocal does seem to make a massive difference to your treatment and eventual outcome.

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