AMED3001 Cancer
Precision Medicine & Key Technologies
Week 12 closes Module 3 with precision (personalised) medicine — matching a treatment to a tumour's molecular profile to overcome heterogeneity and resistance — and the enabling technologies (genomics, nanotechnology, AI). It draws the key distinction between genomic tumour testing and hereditary germline testing, revisits BRCA1/PARP synthetic lethality and breast-cancer subtypes, and frames the topic of the student pitch (4%). The genomic-versus-hereditary distinction is a reliable short answer in the final (50%, confirm on Canvas).
What this chapter covers
- 01One-size-fits-all vs precision medicine; profiling each tumour to address heterogeneity and acquired resistance
- 02Biomarkers and companion diagnostics; matching a therapy to a tumour's molecular profile
- 03Genomic tumour testing (acquired mutations, tumour only, not heritable) vs hereditary germline testing (inherited, every cell, blood/saliva)
- 04BRCA1/PARP synthetic lethality; breast-cancer subtypes (~6:2:2 ER+ : HER2+ : triple-negative)
- 05Liquid biopsy for monitoring (ctDNA); ~5-10% of breast cancers are inherited
- 06Key enabling technologies: genomics, nanotechnology (lipid nanoparticles) and AI
- 07Nano-immunotherapy in HER2+ breast cancer; immunotherapy durable-remission rate ~15-20%
Genomic tumour testing vs hereditary genetic testing
- +1Mutations analysed: genomic tumour testing looks at ACQUIRED (somatic) mutations arising in the tumour from exposures; hereditary testing looks at INHERITED (germline) mutations.
- +1Cells and sample: genomic tumour testing analyses the tumour/cancer cells (a tumour sample); hereditary testing analyses a mutation present in EVERY cell, so it can be done from blood or saliva.
- +1Heritability: somatic tumour mutations cannot be passed on to children; germline mutations can be inherited by offspring.
- +1Clinical purpose: genomic tumour testing guides treatment selection for the patient's cancer; hereditary testing identifies at-risk individuals and families for screening and prevention (about 5-10% of breast cancers are inherited, e.g. BRCA1/2, TP53, PTEN).
Key terms
- Precision medicine
- Selecting the most effective treatment by profiling each patient's tumour genetic/molecular features, addressing tumour heterogeneity and acquired drug resistance that defeat one-size-fits-all therapy.
- Companion diagnostic
- A biomarker test that identifies patients likely to benefit from a specific targeted therapy, matching the drug to the tumour's molecular profile.
- Genomic tumour testing
- Analysis of acquired (somatic) mutations present only in the tumour, arising from exposures and not heritable, used to guide treatment selection.
- Hereditary (germline) testing
- Analysis of inherited mutations present in every cell (tested from blood or saliva) that can be passed to offspring, used to identify at-risk individuals for screening and prevention.
- PARP inhibitor / synthetic lethality
- A drug that blocks PARP-mediated single-strand-break repair; in a homologous-recombination-deficient (BRCA-mutant) tumour this generates unrepaired double-strand breaks and selective cell death, while normal cells survive.
- Lipid nanoparticle (LNP)
- A key precision-medicine delivery technology for nano-gene/RNA and nano-immunotherapy; biocompatible, targetable and the basis of the COVID-19 mRNA vaccines.
Precision Medicine & Key Technologies FAQ
What is the difference between genomic tumour testing and hereditary genetic testing?
Genomic tumour testing analyses acquired (somatic) mutations in the tumour to guide treatment, and these are not heritable; hereditary testing analyses inherited (germline) mutations present in every cell (from blood or saliva) that can be passed on, to identify at-risk individuals. This two-axis contrast is a reliable short answer.
Why does precision medicine matter if chemotherapy already exists?
Traditional one-size-fits-all treatment ignores tumour heterogeneity, so it is often ineffective and causes acquired resistance and unnecessary side effects. Precision medicine profiles each tumour to pick the therapy most likely to work, directly addressing heterogeneity and resistance.
What are the key technologies driving precision medicine?
Genomics (profiling the tumour's genetic makeup), nanotechnology (nano-gene/RNA therapy and nano-immunotherapy using lipid nanoparticles) and AI (still early, analysing genomic data for clinical decisions). One clinical application to quote is LNP mRNA delivery or nano-immunotherapy in HER2+ breast cancer.
Can AI help me with precision medicine for AMED3001?
Yes — Sia can drill the genomic-versus-hereditary distinction, explain BRCA1/PARP synthetic lethality step by step, and frame the technologies for your student pitch; it explains the reasoning and checks yours, and it does not complete your graded pitch.
Exam move
Make the genomic-versus-hereditary testing contrast automatic on both axes — mutation origin and clinical purpose — because it is a high-frequency short answer. Tie precision medicine back to earlier chapters (BRCA1/PARP synthetic lethality, breast subtypes, driver mutations) so you can explain WHY a molecular profile changes treatment. Know the three enabling technologies with one clinical application each, useful also for the student pitch (4%). Ask Sia to quiz the distinction and the synthetic-lethality logic; confirm the pitch brief on Canvas.
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