Study Unit 7 Flashcards
analytical validity
is the test result correct?
clinical validity
does the result correctly diagnose the disease or its absence?
clinical utility
does the result guide medical management
ethical validity
how well does the test meet the expected ethical standards?
sensitivity
proportion of affected individuals who are correctly identified by testing positive in the test
specificity
proportion of unaffected individuals who are correctly identified by testing negative in the test
positive predictive value (PPV)
probability that following a positive test result, that person will truly have the disease
negative predictive value (NPV)
probability that following a negative test result, that person will truly not have the disease
false positive rate
proportion of positive tests that are false
false negative rate
proportion of negative tests that are false
log R ratio (LRR)
normalized measure of the total signal intensity for 2 alleles of a SNP
B allele frequency (BAF)
normalized measure of the allelic intensity ratio of 2 alleles
deletion
decrease in LRR values
lack of heterozygote values in BAF
duplication
increase in LRR values
splitting of heterozygote clusters in 2
multiplex ligation-dependent probe amplification (MPLA)
PCR-based method to detect copy number changes by scanning intragenic deletions and duplications
mutation scanning/screening
detect and localize unknown mutations
mutation testing/detection
detection of known or common mutations
predictive tests
identify whether an individual has inherited a gene mutation that may lead to an adult onset genetic disorder
predictive of actual risk of developing disorder
predisposition tests
identify an individual that may be at increased risk of a complex/multifactorial disorder
is not predictive of the actual risk of developing the disease
non-invasive prenatal testing (NIPT)
isolation of fetal DNA from maternal DNA to test for single gene disorder and chromosomal abnormalities
genetic counselling
process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing the disorder or transmitting it and of ways in which this may be prevented, avoided or improved
autonomy
incorporating respect for the persons, their privacy, the importance of informed consent and confidentiality
beneficence
the principle of seeking to do good and therefore acting in the best interest of the patient
non-maleficence
the principle of seeking, overall, not to do harm
justice
incorporating fairness for the patient in the context of the resources available, equity of access and opportunity
