Genetic counselling first appointment - what to expect?

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I've been diagnosed with a rare genetic condition on the basis of clinical signs (no genetic testing done as yet, but it's pretty clear what it is). As a result, I've been sent an appointment in the post for genetic counselling.

I've no plans to have children, but the consultant seemed to think I should go regardless as I'm of childbearing age.

Does anyone know what I should expect at the appointment? I've really had no information at all.

I can only tell you my experience of genetic counselling op. But as I am having children/have children who have inherited things, it may be slightly different. I had a lot of notes/history gone over. The genetic condition explained to me, and was able to ask any questions I have about it/the long term effect/treatments/life expectancy.
I was also offered extensive testing, which I took up.
Take paper and pen with you. You will forget things they say and they will use medical lingo. Have any questions written down you might want to ask.

I had a session, this was pre DNA testing. Basically they looked at my family history (several family members have had breast cancer) and worked out the chance of me developing BC.

I found it useful, I also am childless so it was purely about me.

Genetic counseling goes beyond the pregnancies. Some genetic syndromes bring an added risk for other diseases including cancer. They will outline the way your care will be set and the timeline for yearly checkups if needed. Sometimes there are legal implications as well

Agree, genetic counselling covers a wide range of things. Their role can include clarifying / confirming your diagnosis - or suggesting any other alternatives or testing that might be indicated to do this. Also, the consultant who has diagnosed and referred you, may have detailed knowledge about the condition as it affects one system, and less detailed or up to date knowledge about other aspects. So a cardiologist may have diagnosed something and be aware that it can affect the kidneys and the feet, say. Genetics specialists often help decide a plan as to who else you should see, or whether certain things should be checked for over time.

I believe genetics usually has the luxury of a bit more time when seeing you, also, which means you can ask more questions if you need to.

Hope you find the appointment helpful!

Knowledge is power. Doesn’t matter whether you intend to have children or not, it will help to know everything there is to know about your condition. Although it’s a daunting prospect I’m sure. Good luck.

They will first ask you a lot of questions about your history and parentage and draw a family map. They will then explain the condition, how genes work to come to the discussion around your chances of having it. They will finally discussed whether to be tested or not, the implication of doing so (for insurance purposes for instance) and of opting to be tested. Finally discuss treatment, preventive measures etc... It can last from 30mns to over 1 hour.

You also need to consider a specialist might not be specialised in "your" genetic condition. Let's say you were diagnosed by a neurologist and he determined you have let's say Nf1 on the basis of your physical signs. However he also sees patients with MS, Huntington's , alzheimer's, brain tumour and so on and might be totally unaware that actually you don't have Nf1 but Legius instead which has the same physical presentations of Nf1 but none of the tumours .

Or even if he got the diagnosis right, unless he is a geneticist he won't be up to date to the latest on epigenetics, the activation and silencing of genes, which can have a huge impact on how your conditions evolves. Between research/medical trial and change of protocols, there is a 10 year gap. Your genetic consultant will know more about the recent changes than your specialised consultant.

A genetic condition is part of who you are. Go to the appointment , listen and then you can forget about it if you wish to do so.