MRCGP AKT genomic medicine revision

These questions test how genomics appears in primary care: family history, inherited cancer risk, rare disease clues, testing decisions, consent and safe referral into NHS pathways.

Quick answer

For AKT genomic medicine, prioritise family history, inheritance patterns, familial cancer clues, rare disease red flags, consent for genomic testing, referral thresholds and how to handle uncertainty or direct-to-consumer results safely.

What to revise first

Family history

Revise how to take a three-generation family history, identify first- and second-degree relatives, age at diagnosis and clustering of cancer or inherited disease.

Inheritance patterns

Know autosomal dominant, autosomal recessive, X-linked, mitochondrial and multifactorial inheritance well enough to interpret common AKT pedigrees.

Cancer genetics

Focus on breast, ovarian, bowel, prostate and pancreatic cancer patterns, early onset, bilateral disease and when family history should trigger specialist assessment.

Rare disease signals

Look for multisystem features, developmental delay, dysmorphism, unexplained recurrent problems, consanguinity and repeated family events.

Testing and consent

Understand that genomic testing affects relatives, needs informed consent, may produce uncertain results and is usually coordinated through specialist pathways.

Primary care role

GPs identify risk, explain uncertainty, refer appropriately, support long-term care and respond safely to direct-to-consumer or incidental genomic information.

Common AKT traps

  • Reassuring a patient with a strong family history because their own examination is normal
  • Forgetting age at diagnosis and degree of relative when assessing familial cancer risk
  • Treating a genetic test result as isolated to one patient when it may affect relatives
  • Overinterpreting direct-to-consumer DNA results without clinical context or specialist advice
  • Missing that a rare disease may present as multiple ordinary symptoms across systems
  • Confusing autosomal dominant vertical transmission with autosomal recessive sibling clustering

Why this topic catches candidates out

The trap is expecting molecular detail. AKT genomic medicine is usually about practical primary care: spotting a pattern, taking the right family history, explaining uncertainty, considering relatives and referring through the right NHS pathway.

AKT genomic medicine FAQ

Is genomic medicine tested in the MRCGP AKT?

Yes. Genomic medicine is an RCGP curriculum topic. AKT questions can test family history, inheritance patterns, familial cancer risk, rare disease clues, genomic testing, consent, referral routes and primary care follow-up.

What should I revise first for AKT genomic medicine?

Start with family-history taking, first- and second-degree relatives, inheritance patterns, familial breast or bowel cancer clues, rare disease red flags, genetic testing consent and when to refer to specialist services.

How do genomic medicine questions usually appear in the AKT?

They often appear as ordinary GP consultations: a patient worried about family cancer, a child with developmental features, a direct-to-consumer DNA result, a medicine affected by genetics or a family needing referral advice.

Do I need detailed molecular genetics for the AKT?

Usually no. The AKT is more likely to test practical primary care decisions: family history, pattern recognition, consent, uncertainty, referral and safe explanation of genetic or genomic risk.

Official sources

This is revision guidance, not official RCGP advice. Check current RCGP, NHS, NICE, local genomic-medicine pathways and specialist advice for clinical decisions. Last reviewed June 2026.

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Oct 26
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