ℹ️ This is the case information for the doctor.
Name
Cheryl Cameron
Age
29
Address
45 Maple Drive
Social history
Lives with her husband, Tom, in a semi-detached house in Eastby.
Works full time as a manager in a local shoe shop
Non-smoker, drinks socially (1-2 glasses wine/week).
No children yet; thinking of starting a family in the near future.
Infrequent GP attendance;
Close with her family—sees sister and parents weekly.
Past history
No significant past medical history.
Investigation results
None
Medication
None
Booking note
Family planning and concerns about her sister's baby.
ℹ️ This is the information for the person role playing the patient.
Name
Cheryl Cameron
Age
29
Address
45 Maple Drive
Social history
Lives with her husband, Tom, in a semi-detached house in Eastby.
Works full time as a manager in a local shoe shop
Non-smoker, drinks socially (1-2 glasses wine/week).
No children yet; thinking of starting a family in the near future.
Infrequent GP attendance;
Close with her family—sees sister and parents weekly.
Past history
No significant past medical history.
Medication
None
“My sister has just had a baby and he was born with cystic fibrosis and I was just a bit worried about it.”
You’re “just a bit worried” because your sister’s baby (your nephew) has just been diagnosed with cystic fibrosis.
You want to know what cystic fibrosis means for your nephew—how it will affect him growing up.
Further history about family:
Your uncle (Mum’s brother) had cystic fibrosis and died in his twenties before you were born.
Your mum is alive and healthy, no other siblings with health problems. Dad is well.
No other known cases of CF in the family, other than your uncle and now your newborn nephew.
You know your sister didn’t have any idea she was a carrier until her baby was diagnosed.
Ideas:
You think CF is “something to do with the lungs,” maybe inherited, but you’re not sure.
You don’t know much about CF—“only that my uncle had it and he died before I was born. I just know he got lots of chest infections.”
You’ve not really thought about genetics before, so you want to be sure if you need any tests or if there’s a chance your baby could have it.
Concerns:
You’re mainly worried because “my uncle died young, so is my nephew going to die young as well?”
You also want to find out what this means for you, as you and your husband are starting to think about having a baby.
You are also worried that if you have a baby, it might have CF and you don’t know if you can cope with that.
You feel anxious about not knowing your own risk status.
Expectations:
You would like the GP to explain what CF means, both for your nephew and your own future children.
You’ve not really thought before about carrier status or risk to your own children.
You want practical information—Should you or your husband get tested? What’s the process? What does the risk mean in numbers?
You would like some printed or online information as well.
You expect the doctor to be able to explain the genetic part simply.
You are hoping for reassurance but also want to know if there’s something you can DO to lower risk.
At the start: You are clearly worried but polite, earnest and genuinely seeking information, not demanding.
You understand that some problems can run in families but you do not have an understanding of how genetics works.
If the GP is empathetic and takes time to explain things in simple language, you will show understnading and become more at ease and visibly relieved.
If explanations are full of jargon or unclear, you become confused, your questions become more hesitant or repetitive—“Sorry, can you say that again? I’m not sure I understand.”
If there is warmth and kindness, respond with gratitude.
If the consultation is brisk or you feel dismissed, you become quietly anxious but do not challenge the GP aggressively—your tone is more lost than confrontational.
If pre-conception advice (folic acid, etc) or the offer of a genetics referral is made, you are open to suggestions and thank the doctor for their help.
If given written information, or instructions on next steps, you are grateful and can express, “That’s really helpful, thank you so much.”
ℹ️ To mark data gathering & diagnosis select from the descriptors below.
Positive descriptors
Negative descriptors
Data gathering was systematic and targeted ensuring patient safety.
Begins with open questions to explore Cheryl's understanding of her nephew’s diagnosis and her concerns about cystic fibrosis.
Uses clarifying, closed questions to establish Cheryl’s family structure, her personal health history, and any immediate worries about her own health or pregnancy plans.
Data gathering was incomplete, lacking structure and focus.
Does not establish clearly why Cheryl is worried, missing her concerns about pregnancy risk and her nephew's health.
Jumps between topics such as treatment and testing without first clarifying Cheryl’s main agenda or addressing underlying anxieties.
Makes effective use of existing information and considers the wider context.
Draws on information that Cheryl’s nephew and uncle have had cystic fibrosis and uses this to steer discussion towards family and genetic implications.
Explores Cheryl’s living situation, family dynamics, and the recent impact of her nephew’s diagnosis on her immediate family, appreciating psychological and social dimensions.
Fails to use the information provided or understand the wider context.
Ignores the significance of the uncle’s history and Cheryl’s concerns about her sister, focusing only on clinical facts or test information.
Does not enquire about Cheryl’s relationship with her family or broader support network, missing context about how the diagnosis is affecting family as a unit.
Information gathered placed the problem in its psychosocial context.
Explores Cheryl’s feelings about her nephew’s diagnosis and potential anxieties for her own future children.
Asks about family relationships, support networks, and the emotional impact on Cheryl and her sister, facilitating an empathetic approach.
The social and psychological impact of the problem was not adequately determined.
Fails to explore Cheryl’s anxieties or the psychological impact the diagnosis has had on her and her family.
Omits questions about how Cheryl is coping, if the news is affecting her work, marriage, or social life.
Uses an understanding of probability based on prevalence, incidence, and natural history to aid decision-making.
Explains the chance that Cheryl is a carrier and calculates risk to her future children based on both her and her husband’s genetic status.
Places CF risk into context using evidence-based prevalence and inheritance probabilities (autosomal recessive pattern).
Choice of diagnosis and or investigations does not reflect disease likelihood.
Misunderstands or miscommunicates the inheritance pattern, e.g. suggesting Cheryl’s children could have CF without her partner being a carrier.
Fails to explain the relevance of genetic testing or misrepresents statistical risk to Cheryl and her offspring.
Revises hypotheses as necessary in light of additional information.
Updates advice and risk assessment as further information emerges during the consultation about family medical background.
Rigid consulting with new information not adequately considered and integrated into the working diagnosis.
Ignores or brushes over new information about family health, missing opportunities to re-evaluate risk or management.
The presence or absence of relevant red flags was established.
Enquires about relevant red flags, such as whether there are any unexplained health issues in Cheryl, her husband or other family members that could alter risk.
Fails to assess key information necessary to determine risk.
Does not check for important red flags in family history, such as undisclosed deaths, orsevere illness.
ℹ️ To mark clinical management & medical complexity select from the descriptors below.
Positive descriptors
Negative descriptors
Offers management options that are safe and appropriate.
Recommends genetic carrier testing for Cheryl in line NHS guidelines.
Offers referral to a genetic counselling team for support regarding hereditary risk, testing, and pregnancy options.
Fails to provide appropriate and/or safe management choices.
Does not discuss appropriate genetic tests, exposing the patient to inadequate risk assessment.
Offers reassurance alone or only vague advice, omitting clear next steps for testing and specialist referral.
Continuity of care is prioritised.
Arranges follow-up to discuss the results of genetic testing and outlines how ongoing support will be provided, especially as Cheryl plans her pregnancy.
Encourages Cheryl to stay in contact if she has future questions or when her circumstances change, supporting longer-term care.
Ongoing care is uncoordinated.
Does not offer to follow up or arrange results review, leaving Cheryl unsure about what happens next.
Fails to direct Cheryl towards additional family or reproductive health support as her plans develop.
Empowers self care and independence.
Provides written or reputable online information for Cheryl to review about cystic fibrosis and genetic risk in her own time.
Encourages Cheryl to communicate openly about her concerns and preferences fostering active involvement in her health choices.
Management fails to foster self care and patient involvement.
Does not provide clear resources or information for Cheryl to consult after the appointment.
Excludes Cheryl from decision-making or explanation, resulting in her feeling passive and uninformed about her options.
Manages uncertainty, including that experienced by the patient.
Explains the limitations of genetic risk predictions, and offers clear safety-netting for the possibility of inconclusive results.
Validates Cheryl’s uncertainties about the future and advises her on how next steps will be clarified as results become available.
Struggles with uncertainty, leading to inconsistent decisions.
Provides over-confident or unclear reassurances that misrepresent risk.
Fails to acknowledge that even with genetic testing, absolute certainty may not always be achieved.
Tailors management options responsively according to circumstances, priorities and preferences.
Involves Cheryl in shared decision-making about further testing, based on her own and her husband’s preferences and risk tolerance.
Provides clear options about testing, and involvement specialist services, respecting her plans and anxieties.
Management options fail to adequately consider patient preference and circumstance.
Advocates a rigid approach or generic recommendations without asking about Cheryl’s own priorities, plans, and preferences regarding family planning.
Does not discuss or gauge her willingness for further investigation or her husband’s views and possible support needs.
Practises holistically, promoting health, and safeguarding.
Explores emotional and psychological impact of her nephew’s diagnosis, offers empathy and discusses available support for both Cheryl and her sister.
Actively checks Cheryl’s wellbeing and acknowledges how genetic diagnoses can affect families.
Fails to safeguard patient welfare.
Focuses solely on genetics, ignoring Cheryl’s anxiety, psychological needs, or family support dimensions.
Does not check for coping difficulties.
ℹ️ To mark relating to others select from the descriptors below.
Positive descriptors
Negative descriptors
Shows ability to communicate in a person-centred way:
Responds to Cheryl’s anxiety about her nephew with sensitivity and conversational tone.
Checks Cheryl’s understanding and asks for questions, aiming to adapt explanations to Cheryl’s perspective and needs.
Communication is doctor-centred and lacks empathy:
Focuses on delivering genetic facts and clinical pathways without acknowledging Cheryl’s feelings.
Uses medical terminology and explanations without ensuring Cheryl feels listened to or emotionally supported.
Explores the patient’s agenda, health beliefs and preferences:
Explores what Cheryl wants to know about cystic fibrosis and her biggest concerns for her family and future children.
Elicits Cheryl’s values regarding family, support, and planning to help tailor further explanations and management.
Fails to recognise the patient’s agenda and impact of the problem:
Focuses only on genetic risk to future children without asking about Cheryl’s specific beliefs or her hopes regarding family planning.
Neglects to recognise the broader emotional and social impact of her nephew’s diagnosis.
The patient’s agenda was understood:
Checks Cheryl’s ideas, concerns, and expectations, addressing her uncertainty and providing opportunities for her to ask about nephew’s prognosis and her own pregnancy risks.
Follows up on Cheryl’s expressed wish for explanation and support.
The patient’s agenda was not well explored:
Misses cues about Cheryl’s emotional distress or desire for reassurance about her nephew’s future.
Offers information but does not adjust responses to Cheryl’s priorities or lingering questions.
Recognises what matters to the patient and works collaboratively to enhance patient care:
Invites Cheryl’s views and works with her to form a plan for testing, information sharing, and next steps.
Responds to Cheryl’s cues by pausing to clarify explanations and encouraging involvement in decision-making.
Fails to work with the patient to plan care:
Provides information and recommendations unilaterally, without involving Cheryl in mutual discussion.
Proceeds with a management plan without checking Cheryl’s understanding or addressing her anxieties.
Demonstrates flexibility of communication adapting to the patient and scenario:
Adjusts explanations if Cheryl appears confused (repeating, simplifying, or using analogies), checking for understanding throughout.
Avoids excessive jargon, adaptng to Cheryl’s baseline of knowledge and being ready to revisit explanations as needed.
Consults rigidly, providing generic explanations and management plans:
Uses fixed, technical explanations of genetics and statistics without considering Cheryl’s background or potential confusion.
Fails to clarify points when Cheryl signals uncertainty or struggles to follow.
Demonstrates an empathic approach, and a willingness to help and care for the patient:
Acknowledges Cheryl’s anxiety and uncertainty, offering emotional support and reassurance about the availability of new treatments.
Validates Cheryl’s experience by recognising the worries arising from her uncle’s early death and current family concerns.
Lacks empathy and fails to be recognise emotional cues:
Misses opportunities to support Cheryl emotionally, e.g., does not respond when she expresses concern about her nephew’s life expectancy.
Proceeds clinically without providing reassurance or space for Cheryl’s feelings.
ℹ️ Insights from the examiner
Case at a glance
Cheryl Cameron is a 29-year-old woman whose sister’s newborn baby has recently been diagnosed with cystic fibrosis (CF). Cheryl is considering starting a family and is worried about what this means for her nephew, her own carrier status, her husband’s need for testing, and any future pregnancies.
Her anxiety is increased because an uncle also had CF and died young. The consultation should provide clear, patient-centred genetic explanations, arrange appropriate carrier testing and genetics referral, and offer emotional support without overwhelming her with statistics.
GP trainee performance focus
A strong GP trainee should demonstrate the ability to:
What this case is testing
Patient priorities and concerns
Cheryl may want to understand:
Central challenge
The central challenge is to explain complex genetic information clearly while addressing Cheryl’s anxiety about her family history.
The clinician must:
Must-not-miss issue or diagnosis
The must-not-miss issue is not an acute diagnosis in Cheryl, but the reproductive implication of possible CF carrier status.
This matters because Cheryl is considering pregnancy, and the implications for future children depend on:
Red flags or high-risk features
Important high-impact features are:
Common GP trainee pitfalls
What good looks like
A strong consultation is clear, calm and supportive. The trainee first understands Cheryl’s family story and worries, then explains inheritance step by step, offers carrier testing and genetics referral, and supports preconception planning.
“Because your sister’s baby has cystic fibrosis, it makes sense to clarify whether you carry the relevant gene change. That result will help us understand whether your husband needs testing and what options might be relevant if you become pregnant.”
Learner checkpoint
Have I clarified the family history and Cheryl’s understanding before discussing risk or testing?
Start with an open question
Begin with Cheryl’s story rather than launching straight into genetics.
“How has cystic fibrosis affected your family?”
Another useful opener is:
“What have you learnt about cystic fibrosis from your sister?”
These questions help explore both the factual family history and the emotional impact.
Time-efficient data gathering
Use open, story-focused questions first, then targeted questions to clarify the pedigree and pregnancy plans.
Ask about:
Avoid a scattergun approach. Target the information needed to understand:
High-yield questions
Understanding and information already received
Family history
Pregnancy planning
Concerns and expectations
Functional, psychosocial or contextual assessment
Explore the emotional and family impact of the diagnosis.
Ask:
“How has this news affected your family day to day? Are you or your sister feeling supported?”
“Has this changed how you’re thinking about having children?”
Explore:
Explore ideas, concerns and expectations
Clarify Cheryl’s goals early.
“So your main goals are to understand your nephew’s diagnosis and what it means for your own plans — does that sound right?”
Possible goals include:
Recognise and respond to cues
Respond to verbal and non-verbal cues.
If Cheryl looks worried:
“I can see this has been a worry. What has been your biggest concern?”
If she mentions her uncle’s early death:
“You’re worried your nephew might not live long, like your uncle. That’s understandable.”
Offer balanced reassurance without unrealistic promises:
“There is some good news in that life expectancy and treatments are now much better for many children with cystic fibrosis than they were in the past.”
Useful consultation phrases
“Cystic fibrosis is a condition that can run in families. It can cause a build-up of thick mucus, which can lead to chest infections and digestion problems.”
“Shall we talk about how cystic fibrosis is passed on and what this means for you?”
“We get half the instructions that build our bodies from our mum and half from our dad.”
“To get cystic fibrosis, there has to be an error in the instructions from both parents.”
“If you have an error in the instructions from just one parent, you are called a carrier. This means you are healthy yourself but could pass the faulty instructions on to your child.”
“Is that making sense so far, or would you like me to break it down some more?”
Consultation flow and signposting
Link questions to what Cheryl has already said:
“You mentioned your sister’s baby has just been diagnosed. Can I check, has anyone else in your family had cystic fibrosis?”
Summarising and checking understanding
After explaining inheritance, pause and check understanding.
“So, cystic fibrosis usually happens when a child inherits a faulty copy from both parents. A carrier has one faulty copy and is usually well themselves. The next step is to test whether you are a carrier, and genetics can help explain what that means for you and your husband.”
Check:
Data gathering self-check
Before moving to management, the trainee should know:
Assessment domain mapping
Data gathering
Clinical management
Relating to others
Prioritised differential diagnosis or clinical reasoning
This is not a diagnostic case about current illness in Cheryl. The clinical reasoning task is genetic risk assessment and preconception counselling.
The assessment should establish:
Do not provide a definitive risk estimate until the family history and testing status are clarified.
Clinical reasoning script
“Because your sister’s baby has cystic fibrosis, there is a possibility that you could be a carrier. Being a carrier usually does not make you unwell, but it can matter when planning a pregnancy. The most useful next step is to clarify your carrier status, and then decide whether your husband needs testing too.”
Red flags and risk assessment
There are no acute medical red flags described . The risk assessment is focused on:
Decision points
Key decisions include:
Management priority
The management priority is to offer a stepwise, supportive plan that clarifies genetic risk and supports Cheryl’s reproductive decision-making.
Management options
1. Carrier testing for Cheryl
Offer or arrange genetic carrier testing because of her immediate family history.
Explain:
2. Testing for Cheryl’s husband
Discuss testing for her husband if:
Explain that testing is usually approached stepwise, starting with the family member whose carrier risk is most clearly established.
3. Genetics counselling
Refer Cheryl to a genetics counselling service for:
4. Information and support
Provide reliable information from:
Offer support for Cheryl’s sister and nephew as well as Cheryl herself.
5. Preconception advice
Discuss:
6. Prenatal testing
If both Cheryl and her husband are found to be carriers, discuss the possibility of prenatal testing with the genetics team.
Explain that this should be considered with specialist services, allowing enough time for the couple to understand the options and implications.
7. Direct request for prenatal CF testing
If Cheryl requests direct prenatal CF testing immediately, do not dismiss the request. Explain the stepwise approach.
“The usual approach is to establish the parents’ carrier status first. If both parents are carriers, the genetics team can then discuss the appropriate options for testing during pregnancy.”
8. Follow-up
Arrange follow-up to:
Personalised plan
A suitable plan should reflect:
Shared decision-making
Involve Cheryl in decisions about:
Allow time for processing and avoid rushing reproductive decisions.
Safety-netting
Safety-netting in this case is mainly about follow-up and access to support.
Agree that Cheryl should recontact or arrange review if:
Ethical, legal and safeguarding considerations
The consultation should respect Cheryl’s choices about:
Documentation points
Document:
Common unsafe or weak management plans
Avoid:
Follow-up and coordination with other professionals
Coordinate with:
Follow-up should review:
Learner checkpoint
Have I explained the testing sequence clearly enough for Cheryl to understand why her carrier test comes before decisions about her husband’s testing or prenatal testing?
Relevant guidance areas
This includes guidance and resources on:
NICE guidance
RCGP and SCA resources
Patient information websites
Relevant research or educational references
Key principles to remember
Transferable learning for future cases
In genetic and preconception counselling cases:
Supervisor or examiner lens
A supervisor or examiner is likely to look for:
Final learner takeaway
In genetic counselling, clarify the pedigree, explain inheritance simply, avoid premature risk estimates, and support the patient emotionally as well as clinically.
