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19.2 Genetic Technology Applied to Medicine

Syllabus
9700–2028–2029
Topic
19.2
Level
A2

Recombinant human proteins can treat disease

Recombinant DNA allows microbes or cultured cells to produce human proteins such as insulin, factor VIII or adenosine deaminase.

The therapeutic product must be made in a form that is safe, correctly folded and controllable in dose.

Recombinant insulin avoids relying on extracting the same hormone from animal pancreases.

Producing a human protein does not remove immune, dose or manufacturing risks.

Genetic screening can reveal inherited risk

Screening can identify variants associated with conditions such as BRCA1/BRCA2 cancers, Huntington’s disease or cystic fibrosis.

Interpret a result as risk or carrier information, not as a guaranteed future outcome, and consider confirmatory testing.

A BRCA variant may increase breast-cancer risk while not determining whether cancer will develop.

A screening test can have false positives, false negatives and consequences for relatives; genotype is not destiny.

Gene therapy targets a faulty function

Gene therapy aims to add, replace or edit genetic material so affected cells gain a useful function.

Delivery, duration of expression, immune response and the target tissue determine whether treatment helps.

A vector delivering a functional sequence to retinal cells may improve an inherited eye disorder if enough cells are reached.

Gene therapy is not a universal cure: the delivery route and cell type limit the result.

Genetic medicine involves ethical choices

Screening and gene therapy raise questions about consent, privacy, discrimination, access, reproductive decisions and long-term risk.

A defensible judgement separates evidence about safety or benefit from values about who should decide and who receives access.

Offering a predictive test may help planning but also create anxiety or insurance concerns if privacy is weak.

Ethical disagreement is not solved by listing “pros and cons”; specify stakeholders, evidence, uncertainty and decision criteria.

Objective notes

4 learning objectives
ConceptA-Level CAIE Biology A2