CIE A Level Biology (9700) exams from 2022

Revision Notes

19.2.4 Gene Technology in Medicine

Social & Ethical Considerations

  • The use of gene technology (genetic screening and gene therapy) in medicine is becoming more common
  • Genetic screening in medicine is being used to:
    • Allow people with a family history of a genetic disease to have their DNA analysed to determine if they are at risk
    • Carry out pre-implantation genetic diagnosis (PGD) – embryos that are created outside the body (with the IVF procedure) have their DNA analysed, which allows for embryos that are not carrying a harmful allele that would cause the disease, to be chosen for implantation
  • Gene therapy is being used in medicine for introducing corrected copies of genes into patients with genetic diseases (eg. cystic fibrosis, haemophilia, severe combined immunodeficiency)

Genetic screening

  • There are many social and ethical considerations for genetic screening, which include:
    • Being able to take preventative measures (e.g. elective mastectomy when BRCA1 and BRCA2 are detected) – giving individuals control to prevent illness
    • Using pre-implantation genetic diagnosis to select embryos that do not carry faulty disease-causing alleles. This could lead to the fear of ‘‘designer babies’ being created (this includes creating/choosing embryos with tissue matches to older siblings). Pre-implantation genetic diagnosis can be carried out during in-vitro fertilisation (IVF); cells are extracted from the embryo in an embryo biopsy and genetically screened in order to preselect the embryos without faulty alleles
    • Using genetic counsellors to help people understand their choices and make informed decisions (eg. financial costs, whether termination of fetus is appropriate if quality of life is poor)
    • Risk of miscarriage (which has emotinal consequences) due to the procedures used to collect DNA which are not 100% risk-free
      • Amniocentesis – is used to obtain a sample of amniotic fluid using a hypodermic needle at 15 to 16 weeks of pregnancy
      • Chorionic villus sampling – is used to obtain a small sample of the placenta using a needle between 10 and 13 weeks of pregnancy
  • Choosing to terminate a pregnancy (therapeutic abortion) because the embryo has a genetic disorder (eg. Thalassaemia or cystic fibrosis) or even terminating the embryo due to a minor ‘defect’ that could have seen the child lead an almost normal life
  • Being able to make informed reproductive decisions (eg. Thalassaemia)
  • Determining whether it is best to know the risk of having a disease, especially when there is no cure (eg. Huntington’s)
  • Deciding at what age screening should begin eg. whether parents should be able to choose for their children to be screened
  • The possibility of stigmatization and discrimination. The person may feel stigmatized if they have the disease or discriminated against by health insurers or employers
  • Confidentiality of the data collected – who will have the right to view the results obtained

Social & ethical considerations of using gene therapy

  • The social and ethical considerations of using gene therapy include:
    • The potential for side effects that could cause death (eg. the children who were treated for SCID developed leukaemia)
    • Whether germline gene therapy (the alteration of genes in egg and sperm cells which results in the alteration being passed onto future generations) should be allowed – it could be a cure for a disease or it could create long-term side effects
    • The commercial viability for pharmaceutical companies – if it is a rare disease, the relative small number of patients may not mean that the companies will make a profit (eg. Glybera – a gene therapy for lipoprotein lipase deficiency is no longer produced as there were too few patients)
    • The expense of treatments as multiple injections of the genes may be required if the somatic cells are short-lived (eg. severe combined immunodeficiency). This may make the cost of gene therapy accessible to a limited number of people
    • The possibility that people will become less accepting of disabilities as they become less common
    • Who has the right to determine which genes can be altered and which cannot (eg. should people be allowed to enhance intelligence or height)
    • Another method of enhancing sporting performances unfairly through gene doping. This is where the genes are altered to give an unfair advantage eg. to provide a source of erythropoietin (the hormone that promotes the formation of red blood cells)

Author: Catherine

Cate has over 20 years’ experience teaching Biology to IGCSE, IB and A-level students in seven different countries across Asia, Europe, North America and the Middle East. This has given her a fine appreciation of different cultures, places and teaching methods. Cate has a keen interest in producing Biology revision resources that will help students engage with the subject.

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