Activity: Now watch Take Two: Accessible, inclusive and respectful practice.
While you're watching reflect on the following:
- Are the health professionals following the recommendations from the GeneEQUAL program, which you can find here on this site?
- Are the health professionals following mandatory requirements of all healthcare professionals to make reasonable adjustments for people with disability?
Doctor: "Hi Jess, it's lovely to see you. I can't believe it's been four months. How's that swimming going?"
Jess: "Oh, great. I got an award."
Doctor: "Oh, you've got a picture on your phone. I'd love to see. Oh, wow. So cool. Oh fabulous. Do you feel okay to come in?"
Doctor: "Yeah. Alright, come on through. And Mary, lovely to see you. Come on, Jess. Do you remember where it is?"
Doctor: "So, Jess, do you remember why you're here today?"
Jess: "Yeah, to get my results back."
Doctor: "That's right. Now I can hear you're a little bit nervous? Yeah, so that's completely normal. Often people feel anxious when they're waiting for their genetic test results. How's it been going for you? You've been a bit nervous?"
Doctor: "Did you speak to Jackie?"
Jess: "Oh, yeah. Yeah, I spoke with Jackie on the phone. So that helped me calm a little bit."
Genetic counsellor: "Yeah, I'm glad that was helpful."
Doctor: "So, the big news today is I do have a genetic test report for you. So that's back. But remember, this is all about your choices. Okay, so do you want to go ahead and get that report and me explain that today? Because we can put it off to another day, that's fine."
Jess: "Mary and I had a chat about it and we decided we want to go ahead."
Doctor: "Okay. All right, what the test showed is that you do have a genetic condition. Okay. And that that is an explanation for the things that you came and said you were worried about. So they were why you've had some learning differences, and some of the health things like that reflux where it feels really uncomfortable after meals, okay. So it's pretty big news. Are you happy for me to keep on talking?"
Doctor: "Sure, okay. So pretty much everyone, when I am giving them big news like this, they kind of forget everything that I've said. Okay. That's completely normal because we go into almost like a shock. So, would you like to record what we're talking about on your phone? So at home you can go over and have another listen."
Jess: "Yeah. Yeah, actually that would be…thank you."
Doctor: "All right. Okay for me to go on?"
Doctor: "All right. So I'll just recap that bit. So as I've said the test has shown that you've got a genetic condition that explains why you've had differences with your learning and some of your health conditions. Genes and genetics is really complicated. Do you remember we talked through this booklet before? And explained a little bit about genes being like these little instructions in our body that help make us who we are. Yeah. So, genes are named often in a really funny way, just a combination of letters and numbers. So this little gene that's causing the genetic condition for you is called CLCN4. Okay, and what I've done is I've done a little report here, which is just for you. It's your name, and here I've written some more information. So that's that gene name."
Doctor: "Perfect, spot on. Okay. So this is what I get from the laboratory, this is their report, but I must admit it's really hard to understand."
Genetic counsellor: "I struggle to understand it."
Doctor: "So that's kind of important to have in your records. Maybe you could put it in your folder. But this is why I did that report because it's explaining the most important things. Okay, does that sound alright?"
Doctor: "Okay, fabulous. So, what we can do is just go through all of this again in another appointment, but I think the most important things right now is that, like you can see here, that's the name of the condition, and it's an explanation for your learning differences, and for yourhealth conditions."
Genetic counsellor: "I've actually got some photos, a couple of really lovely young people with the same genetic condition. They're happy for me to share their photos with you. So this is Sam and Ellie, and they live in Sydney, and they're really happy to talk to people who have just found out that they have CLCN4."
Jess: "Just like me."
Genetic counsellor: "Yeah. Yeah, so, they often have useful stories to share about their own life experience. So I'm happy to give you that information."
Doctor: "While you're doing that, I'm just wondering - is it okay to carry on, have you got some questions or things you want to ask us?"
Jess: "Not right now. I think that's a lot of information"
Doctor: "It can be quite hard."
Genetic counsellor: "Yeah, if you both wanted to write a list of questions, just when you think of it. Sometimes people find this really helpful. So if you, as you think of questions, just write them down, and then that way next time you come back to see us, you've got your list ready. I've got some examples of questions that people often ask, so if you'd like me to give that to you, you can tick off whether they're things you're interested in knowing more about. Does that sound like something that could be helpful."
Doctor: "How are you feeling about all of that?"
Jess: "Yeah. Can I have a hug?"
Doctor: "Okay. Big news."
Genetic counsellor: "I guess the most important thing is that this doesn't change anything about who you are. You're still the most amazing person, swimmer… You're Jess. This hasn't changed anything about who you are. It just gives an explanation. We all have changes in our genes."
Doctor: "Yeah, I do."
Genetic counsellor: "Most of us even don't know what those changes are, and tiny little gene changes can affect people in different ways. So, you know, it just so happens that you have a change, a tiny little change in that CLCN4 gene. But it hasn't changed anything about who you are. It really just gives an explanation. You know how you were telling me, it's always been really hard to learn, even though you try so hard. And that's really because that gene has just made it difficult - more difficult - for your brain to put things together. You just need a little bit more time than some people, and maybe learning things in different ways."
Doctor: "The other thing to mention is we'll be doing a report back to your GP, if you're happy with that. Is that alright?
Doctor: "And in that we're going to recommend some health checks as well. So that's the other really important thing about this result, is it means that you can get an explanation, but also the best possible care and support, and health care. So we can get those health checks in place and keep you healthy, which is what we want. Yeah? And it gives you lots more options and information than you had before. But that's not to take away that it's a big bit of news today."
Genetic counsellor: "Yeah, and I guess on that point too, I know that you had organised to see your counsellor, Alice. So this will be a really good time to talk through what it feels like to get a diagnosis, you know to find out the genetic condition.
And we're happy to talk to Alice too, and fill her in if you'd like us to, so that she understands what the information is that you've been given."
Doctor: "You've got your things to read, and you know how to contact us. Okay. And you've got that follow up with Alice. Beautiful. Alright, so, please, if you're feeling worried, just contact us. We're always happy to talk to you."
Jess: "Thank you."
Doctor: "No worries."
Post-viewing activity: Now you have seen both videos.
Please reflect on the following:
- How would Jess feel at the end of each appointment?
- What key techniques or approaches would you like to apply in your own clinical practice?
- And what is one key technique or approach you can commit to doing?
Questions, compliments, feedback? Please contact us using the link in the description below.
Keen to learn more? There are more videos and an accompanying educational toolkit including Easy Read genetic health literacy resources available at the Centre for Genetics Education website.
You can find our contact details and access this video series and many more resources on this website.
This video was co-produced with people with intellectual disability, and based on their real-life experiences with clinical care, and their opinions and preferences for more inclusive, accessible and respectful genetic health care.
It features members of the GeneEQUAL inclusive research team Skie Sarfaraz, Jackie Boyle, Emma Palmer, and Iva Strnadová.
Thank you for participating in this professional development course.
GeneEQUAL acknowledges the financial support from the New South Wales Health Transforming Healthcare through Genomic Technologies Initiative, funded by the Australian Government through Stage 1 of the Health Innovation Fund. We thank the participants in our interviews, focus group, and multi-stakeholder advisory committee for their wisdom and guidance, and the people with intellectual disability who took part in three co-production workshops in Metropolitan and rural areas to help co-create these resources.