New Genetic Diagnosis - BRCA2
Clinical Vignette: You are an IMT doctor working in an outpatient medical clinic.
You are asked to speak to Ms Sarah Williams, a 38-year-old woman, who recently underwent genetic testing following a strong family history of breast and ovarian cancer.
Her results show that she carries a pathogenic BRCA2 gene mutation.
She is asymptomatic, has no personal history of cancer, and has come today to discuss the result.
What This Station Is Testing?
- Explain the BRCA2 result clearly
- Explore the patient’s understanding and concerns
- Discuss implications for cancer risk
- Outline surveillance and risk-reduction options
- Address emotional impact and family implications
- Provide appropriate support and safety-netting
Model Consultation Structure
Introduce and set expectations
Explore understanding of genetic testing
Ask permission to discuss results
Explain BRCA2 clearly and calmly
Explore emotions and concerns
Outline next steps and management options
Summarise, safety net, and close
Opening Framework
Aim: Create a safe environment, check understanding, set the agenda, and obtain permission.
Key steps:
Introduce yourself and your role
Acknowledge the anxiety surrounding results
Check what the patient understands so far
Ask permission to explain the result
Model opening:
“Hello, my name is Dr ___, one of the medical doctors in clinic today. Before we start, can I check that you’re comfortable?”
“I understand you’ve been waiting for the results of your genetic test before I explain them, can I check what you understand about why the test was done?”
“Would it be okay if I explain the result and then we can talk through what it means and what happens next?”
Empathy (use early):
“I can see this has been worrying we’ll go through this step by step.”
Core Content - SPIKES Framework
S – Setting and Listening Skills
Sit at eye level
Open body language
Calm, unhurried tone
Allow pauses
Model phrasing:
“We have time today, so please stop me at any point if something isn’t clear.”
P – Patient’s Perception
Explore what the patient understands about genetic testing and BRCA.
Model phrasing:
“What’s your understanding of what a BRCA gene is and why you were tested?”
Correct misconceptions gently.
I – Invitation
Check how much detail the patient wants.
Model phrasing:
“Some people want all the detail straight away, others prefer an overview how would you like me to explain this?”
K – Knowledge (Explaining BRCA2 Mutation Clearly)
Key principles:
Use simple language
Avoid overwhelming detail
Reassure that this is not a cancer diagnosis
Model explanation:
“The test shows that you carry a change in a gene called BRCA2. This gene normally helps repair damaged DNA. When it doesn’t work properly, it increases the risk of certain cancers.”
Be explicit:
“This result does not mean you have cancer.”
Explain risks in broad terms:
“It does mean your lifetime risk of developing breast cancer and ovarian cancer (some other cancers – pancreatic, melanoma and prostate cancer in men) is higher than average.”
If asked for specifics:
“We can talk about exact numbers in more detail with the genetics team, but the important thing today is that there are effective ways to monitor and reduce risk.”
E – Explore Emotions and Empathise
Pause and explore emotional response.
Model phrasing:
“How are you feeling hearing this?”
Common emotions:
Anxiety
Guilt about children
Fear of cancer
Feeling overwhelmed
Validate:
“That reaction is completely understandable.”
Avoid rushing into management too quickly.
S – Strategy and Summary
Management and Next Steps
Outline options clearly without forcing decisions:
Surveillance
Earlier and more frequent breast screening
MRI and mammography
Risk-reduction options
Medications (“Tamoxifen can reduce risk of hormone sensitive [ER-positive] breast cancer”)
Preventive surgery (risk-reducing salpingo-oophorectomy primarily for ovarian cancer – not today’s decision)
Specialist input
Referral to clinical genetics
Breast/oncology specialists
Family implications
“This gene change is inherited in what we call an autosomal dominant way. That means each close family member such as your children, brothers, or sisters has a 1 in 2 chance of carrying the same gene change. Both men and women can inherit it, and people can carry it even if they never develop cancer themselves.”
“Because this is inherited, close family members may also be offered testing but that’s something we’ll support you with.”
Immediate Next Steps
Refer to genetics counselling
Arrange specialist breast surveillance
Provide written information
Offer psychological support if needed
Arrange follow-up appointment
Offer support explicitly:
“Would it help to talk this through again at a follow-up?”
“Would you like support with how to tell family members?”
Key Phrases That Score Marks
“This result does not mean you have cancer.”
“There are effective ways to manage and reduce this risk.”
“You don’t need to make any decisions today.”
“We’ll support you through this step by step.”
“How does this affect what you were most worried about?”
“Would it help to have written information to take home?”
Common Station Pitfalls
Presenting BRCA2 as a diagnosis of cancer
Overloading with statistics early
Rushing into preventive surgery discussions
Ignoring emotional impact
Forgetting family implications
Not arranging genetics follow-up
Safetynetting & Close
Invite questions:
“What questions do you have at the moment?”
Offer a summary:
“Would you like me to summarise what we’ve discussed?”
Model summary:
“Today we discussed that you carry a BRCA2 gene mutation. This doesn’t mean you have cancer, but it does increase your risk. We’ve talked about referral to genetics, increased screening, and support available to you.”
Safety net:
“If you feel overwhelmed or think of questions later, please contact the clinic — we can arrange another appointment.”
Take-Away Box
BRCA2 discussions are about clarity, reassurance and planning not rushing decisions.
