Students should be able to discuss the importance of understanding the…

The idea

Discussing the human genome means weighing up benefits and limitations. Benefits include identifying genes linked to inherited disorders such as cystic fibrosis, enabling genetic testing and counselling, understanding how cancers arise from mutations, and developing medicines matched to a patient's genotype. Limitations include the role of environment, the fact that many conditions involve several genes, and ethical concerns about privacy, insurance and editing genes. A good discussion gives both sides and reaches a supported judgement, using accurate terms such as genome, allele, mutation and genetic testing.

What earns the marks

• Gives at least one medical benefit of understanding the human genome, such as identifying genes linked to inherited disorders.
• Gives at least one further benefit, such as genetic testing, counselling, or matching medicines to a patient's genotype.
• Recognises a limitation or ethical concern, such as privacy of genetic data, insurance discrimination, or the influence of environment.
• Uses correct terminology, including genome, allele, mutation and genetic testing.
• Reaches a supported judgement rather than listing points without a conclusion.

Common mistakes and how to put them right

• Listing only benefits and ignoring limitations.

  Put it right: Include at least one limitation or ethical concern.

• Confusing genetic testing with gene therapy.

  Put it right: Testing identifies alleles, whereas gene therapy aims to treat a disorder.

• Claiming a person's genome alone determines all their characteristics.

  Put it right: Environment and lifestyle also contribute.

Exam tips

• Plan two benefits and one limitation before writing, then add a short concluding judgement.
• Use connectives such as 'however' and 'therefore' to show balanced discussion.
• Anchor each point to a named example, such as testing for the allele that causes cystic fibrosis.