Cases/Genetics

Woman Requesting Genetic Screening for Breast Cancer — Free SCA Practice Case

Woman requesting genetic screening for breast cancer

Station Timer

12:00

Golden Minute

Initial Introduction

•Introduce yourself

•Ask an open question — "How can I help you today?"

•Listen — don't interrupt

•Catch early cues

Data Gathering

History, ICE & Diagnosis

Clinical Management

Diagnosis, Plan & Decisions

Safety Net

Follow-up & Close

12:00

Golden Minute

Materials for Candidate

Please review before starting the consultation

Patient Profile

Full Name

Claire Thompson

Age

38 years

Consultation Type

Video

Age

38 (DOB: 12/09/1987)

Situation

Video Consultation.

Reason for Encounter

"Wants to request the breast cancer gene test. Her sister was recently diagnosed with breast cancer."

Medical Records

●PMH: Generally fit and well. Mild health anxiety (has presented multiple times in the past for minor symptoms).
●Medications: Combined Oral Contraceptive Pill (Rigevidon).
●Allergies: NKDA.

Recent Notes

●2 Years Ago: Routine smear test (Normal).

Patient Script

For the friend playing the patient role

Character Overview: You are Claire. You are highly anxious and visibly distressed. Your older sister was diagnosed with breast cancer a month ago and has just had a mastectomy. You have been reading articles online about the BRCA gene (like Angelina Jolie) and are terrified you are a "ticking time bomb." You want a blood test today to check your genetics.

Opening Sentence: "Hi Doctor. Look, I'll get straight to the point. My sister has just had her breast removed because of cancer, and I'm terrified. I need you to arrange that BRCA gene test for me as soon as possible. I can't sleep for worrying about it."

History if Asked (Data Gathering Phase)

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The Sister's Diagnosis: "My sister, Anna, is 45. She found a lump a couple of months ago and it turned out to be cancer in one breast. She's starting chemotherapy next week."
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If asked whether her sister had tested positive for the BRCA gene: "You vaguely recall that she underwent genetic testing but are unsure what the results were and hadn't heard anything since."
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Other Family History (The Clinical Negative Clues):
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"No, just Anna. My mum is 70 and she's fine. My grandmothers both died of old age in their 80s."
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"Nobody else has had breast cancer on my dad's side either."
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"No ovarian cancer in the family."
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"No men in the family have had breast cancer."
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"We don't have any Jewish ancestry as far as I know."
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Personal History:
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"I check my breasts regularly and I haven't felt any lumps. I don't have any pain or discharge."
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"I'm on the pill. Does that make it worse?"

ICE — Ideas, Concerns, Expectations

The patient does not volunteer these unprompted. These responses surface only when the candidate directly explores the patient's perspective.

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Ideas: "I've been reading online that the BRCA gene runs in families and that if my sister has it, I could have it too. I saw that thing about Angelina Jolie — she had a double mastectomy before she even got cancer because she had the gene. I think I might be carrying it and just not know yet."
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Concerns: "I'm terrified that this is already ticking away inside me and by the time they find it, it'll be too late. Anna found hers by accident — what if mine's growing right now and I can't feel it? I can't stop thinking about it. I'm not sleeping, I'm checking my breasts every single day, and every little ache I get I think 'is this it?'"
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Expectations: "I just want the blood test done so I know one way or the other. If it comes back clear, I can stop worrying. If it doesn't, at least I can do something about it early — like Angelina Jolie did. I just need to know."

If Asked — Medical History and Medications

Actor guidance — respond only if the candidate asks directly about these items.

●
Combined Oral Contraceptive Pill (Rigevidon): "I've been on it for years — maybe eight or nine years now. It's never caused me any problems. I did read something online about the pill and breast cancer risk though — is that true? Should I be stopping it?"
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Health anxiety / previous presentations: If the candidate sensitively asks about anxiety or previous health worries: "I know the doctors here probably think I come in too much. I did go through a phase a couple of years ago where I kept thinking things were wrong with me — I had headaches and I was convinced it was something serious, and then there was a mole I was worried about. But this is different. This is real. My sister actually has cancer."
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Smear test: "Yes, I had one about two years ago and it was fine. I'm up to date with that."

Social History and Lifestyle Impact

Actor guidance — volunteered naturally in conversation when the candidate explores how Claire is coping or what her day-to-day life looks like.

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Occupation / daily life context: "I work as an office manager at a small company. I've got two kids — they're six and nine. My husband's been supportive but I think he's getting worried about me too."
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Lifestyle impact of the condition: "Honestly, it's taken over my life. I'm lying awake at night going through worst-case scenarios. I've been snapping at the kids because I'm so on edge. I called in sick twice last week because I just couldn't face going in — I was sat at home Googling survival rates and crying. My husband found me at two in the morning reading about prophylactic mastectomies. He said I need to talk to someone but I just need the test first — once I know, I can deal with it."

If Asked — Associated Symptoms

Actor guidance — respond only when the candidate asks directly about each symptom.

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If asked about breast lumps: "No, I haven't found any lumps. I've been checking every day — sometimes twice a day — but I can't feel anything unusual."
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If asked about breast pain: "I get a bit of tenderness before my period sometimes, but nothing new or different from normal."
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If asked about nipple discharge: "No, nothing like that."
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If asked about skin changes on the breasts (dimpling, puckering, redness): "No, they look normal as far as I can tell."
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If asked about axillary lumps or swollen glands: "No, I haven't noticed anything under my arms."
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If asked about unintentional weight loss: "No, my weight's been about the same. If anything I've put on a bit because I've been comfort eating."
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If asked about fatigue: "I'm exhausted, but that's because I'm not sleeping — not because of anything else, I don't think."
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If asked about bone pain or back pain: "No, nothing like that."
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If asked about shortness of breath or cough: "No, I'm fine with all of that."
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If asked about abdominal bloating or pelvic symptoms (relevant to ovarian cancer screening in BRCA context): "No, nothing like that. My periods are regular and I don't have any tummy problems."
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If asked about mood or mental health: "I mean, I'm a wreck, obviously. But I wasn't like this before Anna's diagnosis. It's all come from that. I don't think I'm depressed — I'm just scared."
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If asked about alcohol or smoking: "I don't smoke. I have a glass of wine a couple of times a week — nothing excessive."

Responses to Management (The Negotiation Phase)

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If the Doctor asks to take a detailed family tree: Reaction: Impatient. "I just told you, it's only my sister. Why does that matter? If she has it, we share DNA, so I could have it too. Just do the blood test!"
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If the Doctor explains she is 'Low Risk' or 'Near-Population Risk': Reaction: Defensive/Angry. "Low risk?! My sister is 45 and just lost her breast! How can you say I'm low risk? The internet says first-degree relatives are at high risk."
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If the Doctor refuses the genetic test or referral: Reaction: "So you're just going to wait until I get cancer too? Is this about NHS funding? If you don't refer me, I'll go to one of those private clinics I saw on TV."
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If the Doctor suggests stopping the Combined Pill: Reaction: "I can stop it if you think it's dangerous, but my main worry is the gene."

Mark Scheme

Domain 1: Data Gathering and Diagnosis

0 / 22 indicators checked+0−0

Positive (0/11)

Negative (0/11)

Domain 2: Clinical Management and Medical Complexity

0 / 32 indicators checked+0−0

Positive (0/16)

Negative (0/16)

Domain 3: Relating to Others

0 / 22 indicators checked+0−0

Positive (0/11)

Negative (0/11)

Clinical Learning Points

Risk Stratification in Familial Breast Cancer (NICE CG164 / NICE CKS)

Risk category is determined by the number of affected relatives, their degree of relationship, and age at diagnosis — not by the fact of a family diagnosis alone.

●Near-population risk: One first-degree relative (FDR) diagnosed with breast cancer aged 40 or older; or one second-degree relative (SDR) diagnosed at any age. Claire falls into this category (one FDR, sister aged 45). No referral is indicated. Manage in primary care with routine NHS Breast Screening from age 50.
●Moderate risk: One FDR diagnosed under 40; or two FDRs (or one FDR plus one SDR) diagnosed at any age. Refer to secondary care (Family History Clinic or Breast Clinic) for consideration of annual mammography from age 40.
●High risk: Three or more close relatives diagnosed at any age; two close relatives diagnosed under 50; or presence of specific high-risk features (see section 2). Refer to Clinical Genetics for BRCA1/BRCA2 testing.

The most common error is conflating emotional salience ("my sister has cancer") with clinical risk. Risk stratification is a structured process — always take a systematic family history before assigning category.

High-Risk Features That Would Elevate the Risk Category

When taking a family history for breast cancer, always screen explicitly for features that move a patient from near-population to high risk:

●Bilateral breast cancer in an affected relative
●Male breast cancer in the family
●Ovarian cancer in the family (strongly associated with BRCA1/BRCA2)
●Ashkenazi Jewish ancestry (population carrier frequency of BRCA mutations is significantly higher — approximately 1 in 40 vs 1 in 400 in the general population)
●Young age at diagnosis (under 40) in an affected relative
●Multiple affected relatives across generations

In this case all high-risk features are absent, confirming near-population risk. Failing to ask about these features represents a significant data-gathering omission.

BRCA Genetic Testing — Who Is Tested and When

●Only approximately 5–10% of breast cancers are caused by an inherited gene mutation such as BRCA1 or BRCA2. The majority (approximately 85–90%) are sporadic — arising from somatic mutations acquired over a lifetime rather than inherited germline mutations.
●Cascade testing principle: Genetic testing in families always begins with the affected relative. Testing the unaffected individual first is clinically uninformative — a negative result in a healthy person cannot exclude the possibility that the family carries a mutation if the affected relative has not been tested. If Anna is found to carry a BRCA mutation, Claire's risk is reassessed and predictive testing can then be offered.
●BRCA testing for unaffected individuals is accessed via Clinical Genetics and is reserved for those meeting high-risk criteria. It is not available in primary care and cannot be arranged by the GP directly for a near-population-risk patient.
●Safety-net clearly: if Anna is found to carry a BRCA mutation, or if further relatives are diagnosed with breast or ovarian cancer, Claire should return so her risk category can be formally reassessed.

Combined Oral Contraceptive Pill and Breast Cancer Risk

●The combined oral contraceptive pill (COCP) is associated with a small increased relative risk of breast cancer during use and for approximately ten years after stopping, after which risk returns to baseline.
●This increase in relative risk translates to a very small absolute risk increase at population level, particularly in younger women where the background incidence of breast cancer is low.
●At near-population risk, current NICE guidance does not mandate stopping the COCP. The decision should be a shared one, weighing the small breast cancer risk increment against the benefits of reliable contraception (including the COCP's protective effect against ovarian and endometrial cancer).
●Do not tell a near-population-risk patient to stop the pill immediately — this causes disproportionate alarm. Do not dismiss the question — address the evidence directly and involve her in the decision.

Lifestyle and Modifiable Risk Factors

Evidence-based modifiable risk factors for breast cancer that are relevant to discuss proportionately with all women:

●Alcohol: Even modest regular alcohol intake (one to two units per day) is associated with a measurable increase in breast cancer risk. Current UK guidance recommends keeping intake below 14 units per week.
●Weight and physical activity: Overweight and obesity (particularly post-menopausally) and physical inactivity are independently associated with increased breast cancer risk. Regular physical activity is protective.
●Frame these as positive, empowering steps — not as additional sources of anxiety. Keep the discussion brief and proportionate for a near-population-risk patient.

Breast Awareness Advice

●Advise women to be breast aware — to know what is normal for them and to report any new changes promptly.
●Changes to report: new lump or thickening, skin dimpling or puckering, nipple inversion or discharge, change in breast shape or size, or axillary lump.
●Avoid advising rigid daily or weekly self-examination schedules in a patient with established health anxiety — compulsive checking reinforces anxiety rather than providing reassurance. Advise awareness and prompt reporting of changes, not surveillance.

NHS Breast Screening Programme

●The NHS Breast Screening Programme currently invites women for mammography every three years from age 50 to 70 (with the age extension trial extending invitations from age 47).
●At near-population risk, no additional imaging (ultrasound, MRI) is indicated in primary care. Do not arrange or offer these — they are not indicated at this risk level and carry real harms (false positives, unnecessary biopsies, and anxiety).
●Claire will be automatically invited for routine screening when she reaches the eligible age.

Recognising and Addressing Health Anxiety in this Context

●Claire's presentation has features of health anxiety that extend beyond an appropriate response to a family diagnosis: compulsive breast checking (daily or twice daily), catastrophic thinking about undetected cancer, inability to work, sleep disturbance, and late-night internet searching about worst-case scenarios.
●These features require clinical attention in their own right — the consultation must address both the genetic risk question and the psychological burden, not simply resolve the test request.
●A pragmatic management approach includes: validating her concern as understandable given a real family diagnosis; providing clear, accurate information to correct specific misconceptions (e.g. the Angelina Jolie analogy, cascade testing); and offering structured follow-up.
●If distress persists, consider self-referral to NHS Talking Therapies (IAPT) for health anxiety-focused CBT. Brief signposting to reliable information sources (Cancer Research UK, Macmillan) can also help redirect away from unmediated internet searching.
●Critically, do not allow the health anxiety history to invalidate her current concern. This situation involves a genuine, significant life event. The history of health anxiety contextualises her response — it does not make her concern inappropriate.

Safety-Netting

Two distinct safety-net messages are required in this case:

●Change in family history: If Anna (or any other relative) is found to carry a BRCA1 or BRCA2 mutation, or if further relatives are diagnosed with breast or ovarian cancer, Claire should return to have her risk formally reassessed. Circumstances can change and so can her eligibility for referral.
●New breast symptoms: If Claire develops any new breast symptoms — a lump, skin change, nipple discharge, or axillary swelling — she should seek review promptly regardless of her genetic risk status. A near-population risk classification does not alter the standard two-week-wait pathway for symptomatic presentations.

Holding a Clinical Boundary Under Pressure

●This case tests the ability to decline an inappropriate referral while maintaining empathy and clinical confidence. "Referring for reassurance" to a Family History Clinic or Clinical Genetics when the patient does not meet criteria is a specific negative indicator — it misuses specialist resources and risks reinforcing health anxiety.
●Acknowledge the request is reasonable on its face (she wants certainty), explain clearly and accessibly why the criteria are not met, and redirect to what genuinely helps (follow-up, lifestyle advice, breast awareness, anxiety support).
●If the patient threatens to go privately: remain neutral and supportive. She has every right to seek a private opinion. However, as her NHS GP, the clinical advice must be grounded in national guidelines, and it would be appropriate to note that any reputable private genetics clinic would apply the same risk stratification criteria.

Free MRCGP SCA practice case for GP registrars covering Woman Requesting Genetic Screening for Breast Cancer — Genetics. Includes candidate brief, patient script, marking scheme mapped to the RCGP SCA marking domains, and learning points. Built directly from the RCGP curriculum topic stations listed under "How this might be tested in the MRCGP SCA," part of a free library of 79 SCA practice cases for simulated consultation assessment preparation.

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