Genetic Counselling & Personalised Medicine (AQA A Level Biology)

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Genetic Counselling & Personalised Medicine

Genetic counselling

  • Genetic screening can leave a patient or parent with many questions
  • Genetic counsellors are commonly used to help individuals understand and process their results
    • The counsellors will read out the results and explain what they mean

  • Counsellors can also be seen before a screening has occurred to inform an individual of the possible results
  • They may discuss the following with a patient:
    • The chances of the individual developing an inherited disease
    • The lifestyle changes that can be made to reduce or manage the risk of developing the disease
    • Therapeutic treatments possible for the patient
    • The chance of an individual having a child with a certain disease
    • Termination of a pregnancy
    • Financial implications of having a child with severe disabilities
    • Ethical issues

Personalised medicine

  • Personalised medicine involves the development of more targeted drugs to treat a variety of human diseases as well as the development of synthetic tissues
  • Information gathered from genome projects like the Human Genome Project (HGP) can be used to develop genomic medicine
    • Genomic medicine uses information about an individuals genes to influence their clinical care

  • Genetic screening allows for individuals with a high chance of developing specific diseases to be identified and for preventative measures or precautions to be taken

Evaluating the Use of Genetic Screening

  • Although genetic screening has a wide range of potential benefits, there are also potential disadvantages of this technology and its use has been questioned by many people who believe it to be potentially dangerous or unethical

Arguments For Genetic Screening

  • Screening for certain conditions can enable people to make sensible lifestyle choices to reduce the chances of the disease developing
    • For example, if you are found to be genetically predisposed to getting cancer or developing heart disease, you can decide to eat a healthy diet and to refrain from smoking in order to reduce the chances of these diseases developing

  • Screening enables potential parents to choose whether or not to have their own biological children, as they may not want to risk passing on a harmful allele
  • Screening enables people to participate in research and clinical trials, which are critical for developing the understanding of and treatments for genetic disorders

Arguments Against Genetic Screening

  • Screening people for an incurable disease or one that develops in later life may not be beneficial as there may be nothing positive that can be done in response to this information, potentially leading to the person becoming depressed or scared
  • This may also lead to someone having to pay a higher price for life insurance (which they may not be able to afford) than other people
  • Some people fear that screening may lead to a form of genetic discrimination against individuals with defective or disease-causing alleles (which may be seen by some people as being "inferior", although this is not the case and no-one should ever be seen as being genetically inferior)
    • In addition, parents found to have a high chance of passing on harmful alleles may be unfairly pressured into not having children

  • Some people fear that screening may one day be used to look more broadly at the genetic make-up of a potential child (i.e. not just focusing on the risks of genetic disorders developing), which could eventually lead to potential parents making reproductive decisions such as aborting foetuses that do not have the desired genetics
    • This idea of 'designer babies' becoming a possibility in the future raises many ethical questions

  • Some religions consider such interferences with the natural process of reproduction to be highly immoral

Examiner Tip

As always, if an exam question asks you to evaluate a piece of information (e.g. relating to the screening of individuals for genetically determined conditions), make sure to give a balanced response, in which you show the examiner that you are aware of the potential advantages and disadvantages of the issue being discussed.

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Lára

Author: Lára

Expertise: Biology Lead

Lára graduated from Oxford University in Biological Sciences and has now been a science tutor working in the UK for several years. Lára has a particular interest in the area of infectious disease and epidemiology, and enjoys creating original educational materials that develop confidence and facilitate learning.