Genome Research and Testing

• It’s now known that some common genetic variants make some drugs less effective. Genetic testing for these variants could help doctors predict how their patients will respond to specific drugs and only prescribe the ones that will be most effective for the patient. This is called personalised medicine.  
• There are drawbacks to genetic testing. 

  • Discrimination - employers may discriminate against people who are genetically likely to get a disease.
  • Increased stress - if people knew they were susceptible to a nasty brain disease, they could panic every time they get a headache (even if they never get the disease).  
• Reasons to do genetic testing:

  • There might be a family history of the condition
  • The genetic test will tell them) if they are carriers or have alleles that cause the disease
  • They can find out/consider the risk of having a
  • baby with a certain disease.
  • They could have tests on the fetus during pregnancy e.g. amniocentesis
  • They can be prepared that their child might have a certain disease or defect.
  • They can decide if they either want to adopt/have a baby.
• How can genetic testing be used to inform family planning and healthcare:

  • Pre-implantation genetic disorders (PGD)
  • Fetal Testing
  • Family planning
• Genetic Testing


  May help people with family planning
• Genetic testing for family planning

  1. Testing of the parents

  2. Testing of the embryo

  3. Testing of the fetus
• Parents


  One of the parents may know there is a genetic disorder within their family, even though they may not have the disorder, genetic tests could reveal whether they are a carrier for the condition
• Embryo


  A couple who know they are at risk of passing on a genetic disorder may choose to have their eggs fertilised in a lab, a cell can be taken from each resulting embryo and its DNA analysed, an embryo without the genetic variants linked to the disorder can be implanted into the womb to develop into a baby
• Fetus


  Once a woman is pregnant, it is possible to get some of the fetal DNA by taking a sample of the amniotic fluid, which surrounds the fetus in the womb, the fetal DNA can then be tested for the genetic variants linked to the disorder, if the test is positive the couple can decide whether they wish to continue with the pregnancy
• Genetic testing can lead to the destruction of embryos or a termination