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Clinical Genetics

My father has been enlivening his retirement by looking into our family history, and tracing both sides of the family back through many generations. It’s fascinating stuff, but some of it has more relevance to the present day than we had anticipated. It’s become very clear, looking at the family tree, that just about all the women on my mother’s side – going back several generations – get cancer of either the breast or uterus, and sometimes with some others thrown in for good measure. They don’t necessarily die of it, as in fact we are a pretty long-lived family, but the pattern is very striking.

I mentioned this to my GP about a year ago, and he was totally dismissive – basically telling me to make sure I keep groping myself for breast lumps. Not helpful. My sister’s GP, on the other hand, immediately referred her to the Royal Marsden hospital, one of the top cancer hospitals, where they took a full family history and said that there was enough evidence to put her on the enhanced breast screening programme, which basically is an annual mammogram. They said that, statistically, I was also at elevated risk of breast cancer, and they recommended that I get myself onto a similar screening programme.

So I went back to my GP, carefully choosing a different doctor from the one who had been so dismissive earlier. I ostentatiously got out copies of the family tree on Royal Marsden headed paper, and spoke about my sister’s proactive London GP taking decisive action in referring her. Well, my GP didn’t want to be thought to be less than proactive or a country cousin, so I walked out of the surgery with an appointment already booked for two weeks later at a Breast Care clinic at Worcester Hospital.

They took one look at the family history – still on Royal Marsden headed paper – and referred me for an immediate mammogram (which was clear) to be followed by the annual breast screening programme. So at least if anything does develop there is a good chance that they’ll catch it early. They also, however, referred me on further to the Clinical Genetics team from Birmingham Women’s Hospital.

So yesterday I spent an hour with a clinical genetics consultant going through my family tree in great detail. Apparently, the pattern of cancers involved is very unusual, and they think it’s going to be worth looking into it in more detail, to see if they can identify or rule out some specific gene variants. The main ones are the breast cancer genes, BRCA1 and BRCA2, but they also want to rule out some other, rarer, inherited cancers arising from different faulty genes. This is likely to involve getting hold of tumour tissue samples stored from when my 91-year old grandmother had a tumour removed decades ago, and testing it for particular genes which have been identified in the meantime. I hadn’t realised that tissue samples are stored for so long, but apparently so.

None of this will be particularly quick. They want to test my mother for the BRCA genes, which will take about two months. If she tests positive then there is a 50% chance that I will also be a carrier, and the same for my sister. If my grandmother’s tissue sample can be located and tests positive (a minimum of six months for that process) then a cascade of tests will be offered down the generations. We will each then need to decide whether we want to take the test and know for certain one way or the other. I’ve already decided that I would want to know – I’d much rather have the information and work with it than be left in the dark. That’s probably the scientist in me!

I’m finding the process very interesting, and everything is entirely hypothetical at the moment anyway. Even if one is a carrier, that merely increases one’s risk of contracting the specific cancer – it doesn’t make it certain, and there are mitigation opportunities offered such as enhanced screening or prophylactic surgery. The worst aspect of the whole thing is that the clinics are held at Worcester Hospital. That’s certainly better than having to travel to the parent department at Birmingham Women’s Hospital – except that I absolutely hate going to the Worcester Hospital. I get the screaming ab-dabs at the mere thought of it – probably because Christopher and I went there every single week while he was ill, and every time we got bad news.

{ 3 } Comments

  1. Richard P | 24 March 2012 at 10:25 pm | Permalink

    Dear Gillian,
    I do hope all these investigations remain entirely hypothetical. It’s certainly impressive, and intriguing, what records are kept and what links can be identified with modern techniques.
    Take care,

  2. Julia Jackson | 25 March 2012 at 12:52 am | Permalink

    Dear Gillian
    What fascinating things genealogy throws up! As a scientist myself I can appreciate your academic interest in the possibilities/probabilities the investigations present – hypotheses are always interesting to look into. Lets hope they remain in the realms of hypothesis. If, however, more tests need to be done, I know you don’t know us very well, but I’d be glad to come over and accompany you to the hospital – I had a minor brush with breast cancer about 8 years ago, so I do understand a bit of what’s involved. And I had to undergo exhaustive tests years ago when I had a series of miscarriages during my first marriage – all rather traumatic at the time. It does help to have someone with you for moral support at the time, and hospitals aren’t the best of places, even without your previous horrendous experiences. Do feel free to call on us if you want to.
    All good wishes from both of us,
    Julia & Peter

  3. pauld | 27 March 2012 at 12:38 pm | Permalink

    Well going to GP with historical clinical evidence suggesting a possible outcome is perfectly reasonable in my book. The standard and variance of some GPs is well below what should be acceptable given what they get paid, after all WE ARE the customers.

    The NHS website ( ) where you can search for GP surgeries and rate them is quite good, people should put up critical reviews for everyone else to see.