B1 Genome Research And Testing Flashcards
Scientists have identified all of the genes found in the human genome. How does this have potential uses?
By comparing genomes of people with and without a certain disease, scientists can try to identify the genetic variants that are involved in a disease.
People can the be tested for the genetic variants that are linked to that particular disease.
Some genetic variants put you at higher risk of developing a certain disease. How can this information help people to reduce this risk?
If people knew they had a particular variant, they may be able to make lifestyle changes to reduce this risk.
In some cases the presence of a particular genetic variant or variants mean that person will definitely have a disease (eg CF).
Why are babies routinely tested for certain genetic variants?
If they have inherited a particular genetic disorder treatment can begin early.
Some common genetic variants are known to make some drugs less effective. How can doctors use this information?
Genetic testing for these variants could help doctors to predict how their patient will respond to specific drugs and only prescribe the most effective one.
What is personalised medicine?
When patients are genetically tested so doctors can predict which drugs to prescribe so the patient receives the most effective treatment.
Name two drawbacks of genetic testing.
Discrimination - employers may discriminate against people who are genetically likely to get a disease.
Increased stress - eg if a person knew they were susceptible to a brain disease, they could panic every time they get a headache.
How might genetic testing be used for family planning?
A couple wanting to have a baby could use genetic testing to identify the risk of their baby having a particular genetic disorder.
Why test a parent with a known genetic disorder in their family?
Even though they may not have the disorder, genetic testing could reveal whether they are a carrier for the condition.
If a couple are at risk of passing on a genetic disorder, they may choose to have their eggs fertilised in a lab. Why?
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.
How can genetic testing be carried out on a fetus?
A sample of the amniotic fluid, which surrounds the fetus in the womb, can be taken to provide feral DNA.
The fetal DNA can then be tested for genetic variants linked to the disorder.
If the test is positive the couple can decide if they wish to continue with the pregnancy.
There is a small risk of miscarriage associated with this procedure.
Name 2 drawbacks of using genetic testing for family planning.
Testing isn’t 100% perfect, a positive result may cause unnecessary stress or a couple receiving a negative result may not be prepared for coping with a child with a disorder when they are born.
Genetic testing can lead to the destruction of embryos or a termination. Some people think any potential life should be allowed to survive or that there may come a point where everyone wants to screen their embryos and pick the most desirable one.
