The examiners are looking for you to apply a structured, patient-centred approach while demonstrating awareness of genetic conditions, ethical considerations, and appropriate management. These cases test your ability to explore family history systematically by drawing a family tree, asking about consanguinity, ethnicity, and specific genetic conditions in relatives.
1️⃣ Read the case notes and plan and predict the consultation;
often genetic cases have letters stating the genetic condition.
2️⃣ Establish Ideas, Concerns, Expectations EARLY
3️⃣ Plan what to include in your targeted history?
• Who is affected?
• Age of onset (e.g., early-onset cancers, cardiac conditions).
• Any genetic testing already done in the family?
• Pregnancy history (if relevant, e.g., neural tube defects).
• Social history: Impact on life, insurance concerns, stigma.
4️⃣ Get familiar with the commoner genetic inheritance patterns
• Autosomal dominant (e.g., Huntington’s, BRCA).
• Autosomal recessive (e.g., cystic fibrosis, sickle cell).
• X-linked (e.g., Duchenne muscular dystrophy).
• Multifactorial (e.g., diabetes, heart disease).
5️⃣ Get familiar with the common SCA genetics cases
• Cystic fibrosis, familial hypercholesterolaemia, haemochromatosis
• Family history of cancer (BRCA, Lynch syndrome).
• Neurogenetic conditions (Huntington’s, familial Alzheimer’s).
• Cardiac genetic conditions (e.g., hypertrophic cardiomyopathy, long QT syndrome).
• Thalassemia/sickle cell carrier screening.
• Recurrent miscarriages (possible chromosomal causes).
6️⃣ Assess the red flags for referral
• Multiple affected relatives.
• Early-onset disease.
• Rare conditions or congenital anomalies.
• Diagnostic uncertainty.
• High-risk family history.
• Preconception counselling needed (e.g., carrier screening).
7️⃣ Get confident in explaining genetics in simple terms
Learn to explain genetics in simple terms and practice explaining gene transmission using analogies; I often use red socks for faulty genes and green socks for healthy genes. Here is an example explanining recessive inheritence. In genetics bits of information that tell the body how to work are passed on from parent to child. Those bits of information that are passed from parent to child are called genes. It might help to imagine each parent has two socks: green socks represent a healthy gene and red socks a faulty one. Each parent passes one sock (gene) to their child. A child only gets the condition if they inherit two red socks—one from each parent. If they get one red and one green, they carry the faulty gene but but stay healthy, we call them carriers. If they get two green socks, they’re completely unaffected. So, in recessive inheritance, a child needs two faulty genes (red socks) to have the condition.
There are genetic tests that don’t need referral to clinical genetics such as familial hypercholesterolaemia (FH) (need referral to lipid clinic), cystic fibrosis (CF), thalassaemia/sickle (they need referral to haematology), haemochromatosis (need referral to gastro/haematology depending on the predominant symptoms) and genetic tests for these conditions are available to GPs and the relevant specialists.
There may be ethical and psychological considerations such as confidentiality, psychological impact and reproductive choices
Do consider follow-up for ongoing support and ensure that you summarise & check understanding in the last minute of the consultation. Remember this is the MRCGP NOT the MRCP for geneticists! We are interested in how you identify the issues and explain inheritance in simple language but at all times stay patient centred (the role player is your friend!)
Key Tips for Success
✅ Stay patient-centred—address emotions and concerns.
✅ Know when to refer (most cases will need genetics input).
✅ Use simple language—avoid jargon.
✅ Balance empathy with clinical clarity.
Author
A. Khan
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