Medical genetics in the clinic Flashcards
What have some advances in clinical practice been due too?
advances in genetic technology
Name some types of genetic tests.
microarray (set of DNA representing all genes in organism arranged in pattern), Mutation tests, single gene screen, gene panel.
What is gene panel testing?
Testing focused panels of genes containing a select set of genes with known / suspected associations with the disease.
what is genetic counselling?
Patients/relatives are advised about the disorder, the probability of them getting it or being a carrier for it, management and family planning.
Who does genetic counselling?
genetic counsellor, clinical geneticist, doctor, GP, nurse
What does DNA sequencing determine?
The exact order of DNA bases within DNA.
What disorder can DNA sequencing help diagnose?
Cystic Fibrosis
How does CF occur?
single mutation in one gene, usually deletion
What is a positive genetic test result?
There has been a change in gene, chromosome or protein.
This may confirm a diagnosis or confirm if a person is a carrier
What is a negative genetic test result?
There is no change in gene, chromosome, protein.
This may confirm that they are not carriers / affected.
but it might not be the case as genetic testing is not advanced enough to detect ALL genetic changes that are responsible for a particular disorder.
What is an uninformative test?
A test that gives no useful information, cos everyone may have natural variations in DNA.
What is a Familial Hyperchloresterimia test?
Tests for high cholesterol that runs in families.
Full mutation screen available .
What is the human genome project?
a goal to determine sequence of base pairs that make up DNA.
