You are an FY2 in GP
Personal Details
Name: Fatima Ahmed
Age: 30
Medical Record:
Past medical history: None.
Regular medication: None.
Allergies: None known.
Notes:
Fatima has booked a pre-conception counselling appointment. She is concerned about the risk of her future children having sickle cell anaemia, as her brother has the condition. She is of African-Caribbean descent.
Task:
1.Take a focused history
2.Address her concerns
Opening Sentence: “Hi Doctor, my husband and I are thinking about starting a family, but I’m very worried about sickle cell disease.”
Open History (to give freely): “My brother has sickle cell anaemia, and he’s been very unwell with it his whole life – lots of pain and infections. I’ve been reading about it, and I’m terrified that my baby could have it too.”
Cues to give: “I don’t have any symptoms myself, so I assume I’m fine?”
ICE (Ideas, Concerns, Expectations):
Ideas: “I think because it’s in my family, my child will definitely get it.”
Concerns: “Will my child have sickle cell anaemia? I don’t think I could cope with seeing my child go through what my brother has.”
Expectation: “I want to know what the chances are. Is there a test I can do to find out?”
How to Act: You are anxious but articulate. You want clear, factual information.
More History (only if asked): You are completely healthy and have never had any symptoms like your brother. You are married and live with your husband. He is also of African-Caribbean descent and is fit and well. To your knowledge, no one in his family has sickle cell disease, but he isn’t 100% sure.
Social History: You work as a teacher. You have a strong family support network.
Questions to ask:
“So what are the chances my baby will have the disease?”
“What does being a ‘carrier’ mean?”
“What happens if we are both carriers?”
Opening & Establishing the Goal:
Thank you for coming in. It’s very sensible to have this conversation before starting a family. You mentioned your partner has sickle cell disease and you’re worried about the risk to your children. Let’s talk that through.
Understanding of the Condition: What do you already know about sickle cell disease and how it’s passed on? What has your partner told you about his condition?
Personal Medical & Family History: Do you know your own sickle cell status? Have you ever been tested? What is your ethnic background? Have you ever been told you are anaemic or have any other blood problems?
ICE (Ideas, Concerns, Expectations): What are your thoughts on how this might affect a future pregnancy?
What is your single biggest worry about this?
What were you hoping to find out from me today?
Reassure and acknowledge:
Thank you for coming to discuss this. It’s a very wise step to take before you start trying for a family. It’s completely understandable to be worried, given what you’ve seen your brother go through. Let’s talk about how sickle cell is passed on, as it might not be as straightforward as you think. Sickle cell is a genetic condition, and to have the full disease, a child needs to inherit a faulty gene from both their mother and their father.”
Addressing and answering the patient’s ICE:
You’re worried your child will definitely get it because of your brother. Because your brother has the condition, we know the gene runs in your family. This means your parents are at least ‘carriers’. This makes it very likely that you are a carrier too. Being a carrier, or having the ‘sickle cell trait’, is very different from having the disease. Carriers are generally perfectly healthy and have no symptoms, which is why you feel well. The crucial question now is whether your husband is also a carrier.”
Next Steps:
The next step is very simple. We can offer you a blood test called a haemoglobinopathy screen. It’s a standard blood test that will tell us for certain if you are a carrier. If you are, then we would strongly recommend your husband gets tested as well. How does that sound?
Let’s talk through the possibilities. If the test shows you are not a carrier, then your child cannot have sickle cell disease. If you are a carrier and your husband is not, your child could be a carrier but cannot have the full disease. The only time there is a risk of the disease is if both of you are carriers. If that happens, with each pregnancy, there would be a 1 in 4 chance of the baby having sickle cell disease, a 2 in 4 chance of them being a carrier, and a 1 in 4 chance of them being completely unaffected.
If it turns out you are both carriers, please don’t panic. There are still options. You would be referred for specialist genetic counselling to discuss this in more detail. When you do become pregnant, you would be offered tests during the pregnancy to see if the baby is affected. This gives you information to make choices that are right for you and your family.
Addressing ideas, concerns, and expectations: Correct her idea that her child will definitely get it. Explain the concept of being a carrier (sickle cell trait) versus the disease. Manage her expectations by outlining a clear testing pathway.
Offer the haemoglobinopathy screen. Explain the implications of all possible results and the subsequent steps, including testing her partner and potential referral for genetic counselling.
What is the scenario testing? This case tests the candidate’s ability to explain complex genetic concepts in a simple, clear, and structured way. It requires a logical, step-by-step approach to pre-conception counselling, managing patient anxiety, and facilitating informed decision-making. Key skills are communication, genetic counselling, and a structured approach to risk assessment.