Study Unit 7

Question 1

analytical validity

Answer 1

is the test result correct?

Question 2

clinical validity

Answer 2

does the result correctly diagnose the disease or its absence?

Question 3

clinical utility

Answer 3

does the result guide medical management

Question 4

ethical validity

Answer 4

how well does the test meet the expected ethical standards?

Question 5

sensitivity

Answer 5

proportion of affected individuals who are correctly identified by testing positive in the test

Question 6

specificity

Answer 6

proportion of unaffected individuals who are correctly identified by testing negative in the test

Question 7

positive predictive value (PPV)

Answer 7

probability that following a positive test result, that person will truly have the disease

Question 8

negative predictive value (NPV)

Answer 8

probability that following a negative test result, that person will truly not have the disease

Question 9

false positive rate

Answer 9

proportion of positive tests that are false

Question 10

false negative rate

Answer 10

proportion of negative tests that are false

Question 11

log R ratio (LRR)

Answer 11

normalized measure of the total signal intensity for 2 alleles of a SNP

Question 12

B allele frequency (BAF)

Answer 12

normalized measure of the allelic intensity ratio of 2 alleles

Question 13

deletion

Answer 13

decrease in LRR values
lack of heterozygote values in BAF

Question 14

duplication

Answer 14

increase in LRR values
splitting of heterozygote clusters in 2

Question 15

multiplex ligation-dependent probe amplification (MPLA)

Answer 15

PCR-based method to detect copy number changes by scanning intragenic deletions and duplications

Question 16

mutation scanning/screening

Answer 16

detect and localize unknown mutations

Question 17

mutation testing/detection

Answer 17

detection of known or common mutations

Question 18

predictive tests

Answer 18

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

Question 19

predisposition tests

Answer 19

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

Question 20

non-invasive prenatal testing (NIPT)

Answer 20

isolation of fetal DNA from maternal DNA to test for single gene disorder and chromosomal abnormalities

Question 21

genetic counselling

Answer 21

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

Question 22

autonomy

Answer 22

incorporating respect for the persons, their privacy, the importance of informed consent and confidentiality

Question 23

beneficence

Answer 23

the principle of seeking to do good and therefore acting in the best interest of the patient

Question 24

non-maleficence

Answer 24

the principle of seeking, overall, not to do harm

Question 25

justice

Answer 25

incorporating fairness for the patient in the context of the resources available, equity of access and opportunity