Genetic Testing

• Why do scientists compare genomes of people with and without disease?

  To identify genetic variations that are linked to a certain disease
• What is genetic testing used for?

  To help people determine whether they carry the allele for a genetic disease or in embryos, determine if they will have the alleles that will cause them to develop a genetic disease.
• Genetic testing can determine the risk of developing a disease, and can be used to determine the risk of passing a disease to offspring
• The size of the risk can be determined by:

  • The chance of it happening
  • The consequences if it did happen
• Genetic testing in adults can be done through blood tests or cheek swabs.
• Why is genetic testing performed on adults?

  To determine whether they are carriers of a harmful genetic variant that could be passed down to future children OR if they have a harmful variant that will lead to developing a genetic disease later in life.
• What does PGD stand for?

  Pre-Implantation genetic diagnosis
• Why is Pre-Implantation Genetic Diagnosis performed?

  Allows parents to test embryos for harmful genetic variants/abnormalities and then they only use the embryos that are free from harmful variants.
• Steps of PGD

  
• What are the two ways you can perform foetal testing?

  Amniocentesis and Chorionic villus sampling
• What does foetal testing involve?

  Remove foetal cells from the amniotic fluid or placenta for testing
• Why is foetal testing done?

  Allows parents to make informed decisions about continuing the pregnancy and prepare possible additional expenses.
• What are the risks of foetal testing?

  1. Small chance of miscarriage
  2. Very small chance of infection
  3. Small risk of an incorrect result
• False positives 


  The test diagnoses a harmful genetic variant when it is not present.
• False negative

  The test fails to detect the presence of a harmful genetic variant when it is present.
• The risk of a false result must be considered when deciding whether to have a genetic test and what to do with the results.
• Ethics 


  Weighing the consequences of a decision
• Individuals will need to consider how a decision will effect all people involved, and how it may effect future decisions.
• What is genetic testing?

  Analysis of DNA to identify changes or mutations.