Lecture 3 - Evaluation of Genetic Tests Flashcards
What is the purpose of an evaluation framework?
To help identify features that you may want to examine when measuring the value of a test
What is the main evaluation framework for evaluating genetic test and what does each letter stand for?
The ACCE Wheel Analytic validity Clinical validity Clinical utility Ethical, legal and social implications
What might you consider regarding the disorder and setting of a genetic test? (3 things)
What is the specific question you are trying to answer?
Is it a standalone test or series of tests?
If a series of tests, are they performed in parallel or only on the basis of the results of other tests?
What is meant by analytic validity?
What is the ability of the genetic test to accurately and reliably measure the genotype of interest
What might you consider regarding the analytic validity of a genetic test? (3 things)
What is the sensitivity and specificity?
How often does the test give a useable result?
Will the same results be obtained in another laboratory, using different equipment?
What is the sensitivity of a test and how do you calculate it?
It is the likelihood that a person with the disease will test positive.
The proportion of all people who actually do have the disease that test positive
What is the specificity of a test and how do you calculate it?
It is the likelihood that a person without the disease will test negative
The proportion of all people who do not have the disease that test negative
How do you calculate the positive predictive value of a test?
Proportion of all people who tested positive who actually have the disease
How do you calculate the negative predictive value of a test?
Proportion of all people who tested negative who actually don’t have the disease
What is meant by clinical validity?
The ability of a genetic test to detect or predict the associated phenotype (disease)
What might you consider regarding the clinical validity of a genetic test? (3 things)
What is the sensitivity and specificity?
Can false positives/false negatives be resolved quickly?
Has the test been validated on all populations to which it might be offered?
What is meant by clinical utility?
An evaluation of the risks and benefits associated with introducing the genetic test into routine practice
What might you consider regarding the clinical utility of a genetic test? (3 things)
How many people will the test actually help?
What are the financial costs?
Can the facilities be put in place easily?
What might you consider regarding the ethical, legal and social implications of a genetic test? (3 things)
Is there any issues surrounding privacy/confidentiality?
Is there any issues surrounding consent?
What safeguards have been put in place and are these safeguards effective?
What is cost-effectiveness analysis?
Compares the cost and health outcomes of new treatment (A) against existing treatment (B)
Cost in terms of £
Health outcome measured in terms of QALYs gained
