Skip to 0 minutes and 7 secondsHello, Helen. Hi. So you've come for your results? Yes. Looks like you've been anxious about that? I'm ready. I'm ready to hear what you found. So we looked at all the HCM genes. Yes. And we have found an alteration in one of the ones that we examined. OK. And we're convinced that this alteration explains why you've got your heart condition. Oh, OK. So that's come from my dad then? We can't be sure because we don't have your dad to test, but it's possible. OK. OK. So that makes me like my dad then? Well, we all share things with our relatives in our genes. Yes. Yes. Yes, I guess.

Skip to 1 minute and 1 secondBut it is quite possible given that he had a sudden heart attack. You're under medication, so that, obviously, is much less likely. Do you feel that it's been helpful that we found out why you had your symptoms? Well, yeah, I mean, now that I'm getting treatment, I feel relieved that we've caught this. And I'm now getting medication and being looked after. But I feel-- well, knowing for definite that it's an inherited sort is pretty crap, really. You feel that's not so good? Yeah. So that means I'll pass it onto my children, doesn't it? It means there's a possibility of that. Would it be OK if I explained-- Yeah. Yeah. --how that works?

Skip to 1 minute and 54 secondsIt's inevitable that I pass it on or not? No. OK. No, it's not inevitable. So you remember that I mentioned that we had two copies of every gene, one from mum and one from dad? Yes. That's also true of this HCM gene. OK. And you have one gene that doesn't have anything wrong with it, and one gene with an alteration in it. OK. Yep. And although you've got a good gene, you have symptoms of HCM. Yes. And that's because we call that dominant. So the altered gene dominates the good gene. So that's the HCM dominant gene? Yes. So it's a gene with a spelling mistake in it. OK.

Skip to 2 minutes and 39 secondsBut then when you come to have children, you give one of each gene in your eggs. So half of your eggs will have the good gene in. Yeah. And half of your eggs will have the altered gene in. OK. So it's 50/50-- OK. --a bit like tossing a coin whether your children inherit the good gene or the altered gene. OK. And then they will have another gene from Fred-- OK. --from their father. So a 50/50 chance of passing it on? So you're quite right. Usually, when we find somebody has an alteration like this in a gene, they have usually inherited it from one parent or another. Yeah. So it might have been your dad, but we won't be sure. Yeah.

Skip to 3 minutes and 24 secondsBut it does mean that your sister Elizabeth might have inherited the same gene alteration and be at risk of heart conditions. OK. So it would be really helpful if we were able to get that information to Elizabeth so that she could get good advice.

Video Discussion: Genetic Counselling in Action - Giving Genetic Test Results

We would like you to think about the following aspects of the video:

  • How might Helen be feeling when she gets this result?

  • How does the genetic counsellor help Helen in this consultation?

  • How does the genetic counsellor explain inheritance?

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