3.8.3 Using genome projects

• Discuss the advantages and ethical implications of using gene therapy to treat genetic diseases. (6 marks)

  Advantages:

  • Can treat genetic disorders by replacing faulty genes. (1)
  • May provide a long-term or permanent cure rather than just managing symptoms. (1)
  • Can be used for conditions like cystic fibrosis and sickle cell anemia. (1)

  Ethical Concerns:

  • Potential risks of unintended mutations or immune reactions. (1)
  • Issues of accessibility and affordability—only available to wealthy patients? (1)
  • Concerns over genetic enhancement rather than just treating diseases. (1)
• A genome is the entire DNA sequence of an organism, including all its genes.
• Genome sequencing involves:

  1. Breaking DNA into fragments
  2. Sequencing the fragments using automated techniques
  3. Using computers to assemble the full genome sequence
• Eukaryotic genomes contain non-coding DNA (introns) and regulatory sequences, making translating it into the proteome harder.
• The proteome is all the proteins that the genome can code for.
• Prokaryotic genomes (e.g., bacteria) are smaller and lack introns, making them easier to sequence.
• Genome sequencing of bacteria and viruses helps in:

  • Developing vaccines by identifying antigens.
  • Tracking antibiotic resistance genes in bacteria.
• Comparing genomes between species is significant as it allows evolutionary relationships between species to be determined.
• Genome projects have medical applications.

  • Identifying Disease-Causing Mutations
  • Helps detect genetic disorders.
  • Allows for early diagnosis and personalised medicine.
  • Personalised Medicine
  • Understanding a person’s genetic makeup allows doctors to prescribe the most effective drugs for them.
  • Developing Gene Therapy
  • Correcting faulty genes to treat genetic diseases.
• Understanding genomes helps scientists genetically modify organisms (GMOs) for medical, agricultural, or industrial use.

  • Example: Insulin production – The human insulin gene was sequenced and inserted into bacteria to produce insulin for diabetics.
• Ethical issues regarding genome projects:

  • Genetic discrimination - people could be judged or discriminated against based on their genetic traits e.g. 'designer babies'
  • Misuse of genetic information - discrimination by insurance companies (increase/deny life insurance), discrimination by employers (refuse to hire people with high genetic risks)
  • Ownership of genetic information - some argue that genetic data should belong to the individual, while others believe it should be shared for medical advancements.