What is the aim of carrier screening in genetic testing?
To identify genetic variation that confers susceptibility to disease before conception.
Which application of genetic testing involves analysing embryos before implantation?
Preimplantation testing.
What is the purpose of prenatal diagnosis in genetic testing?
To identify genetic conditions in a foetus during pregnancy.
Which application of genetic testing is performed on infants shortly after birth to detect certain genetic disorders?
Newborn screening.
Post-natally, genetic testing is used for the identification and _____ of genetic disorders.
management
Genetic testing can be applied to better understand _____ and behavioural issues.
developmental
What type of genetic testing assesses the risk of a person developing a specific genetic condition in the future?
Predictive Testing.
In oncology, genetic testing is used for cancer diagnosis, _____, and management.
treatment
What is the primary feature of direct genetic testing?
It identifies the specific mutation responsible for a particular disease.
How does indirect genetic testing differ from direct testing?
It detects a marker linked to the genetic variant rather than the variant itself.
Indirect genetic testing can analyse variations in gene products such as _____ and protein.
RNA
What type of genome instability can be used as a marker in indirect genetic testing?
Microsatellites.
What is a functional assay in the context of indirect genetic testing?
It measures the product of a metabolic pathway to infer genetic variation.
What does the ‘A’ in the ACCE model for genetic test validity stand for?
Analytical validity, which questions if the test measures what it claims to measure.
What does the ‘C’ for clinical validity in the ACCE model assess?
It assesses whether the test successfully predicts the health outcome.
In the ACCE model, what does ‘Clinical utility’ refer to?
It refers to how useful the test result is for patient management and treatment decisions.
What does the ‘E’ in the ACCE model for genetic test validity represent?
Ethical validity, which assesses how well the test meets expected ethical standards.
Sensitivity (Analytical Validity)
The proportion of affected individuals correctly identified by the test as being positive.
A genetic test with high sensitivity will have few _____ negatives.
false
Specificity (Analytical Validity)
The proportion of unaffected individuals correctly identified by the test as being negative.
A genetic test with high specificity will have few _____ positives.
false
What is the definition of the false positive rate of a genetic test?
The proportion of positive test results that are incorrect.
What does the Positive Predictive Value (PPV) of a genetic test indicate?
The proportion of positive tests from individuals who actually have or will develop the disease.
What is the definition of the false negative rate of a genetic test?
The proportion of negative test results that are incorrect.
