Week 8 - DNA Sequencing Flashcards
1
Q
What is ACCEE?
A
- method to see if a genetic screening should be done
- analytical validity
- how well does the test measure
- clinical validity
- how well does the test predict future health
- clinical utility
- does the test change health outcomes
- ethical validity
- is it ethical
- economics
- is it financially viable
2
Q
How is analytical validity measured?
A
- sensitivity
- detect the condition out of all who have the condition
- specificity
- detect someone without condition out of all who don’t have the condition
- Positive Predictive Value (PPV)
- proportion of positive tests that are true positives
3
Q
What are the advantages and disadvantages of ultrasounds?
A
- advantages
- non-invasive
- no known risk to fetus or mother
- relatively cheap to perform
- disadvantages
- expensive equipment
- skilled and experiences workers
- fetal position
- maternal BMI
4
Q
What is cascade screening?
A
genetic screening of family members when detecting someone with the disease
5
Q
What is ddNTP?
A
- DiDeoxyNucleotide
- terminates elongation
- because of hydroxyl group removed
- prevents phosphodiester bonding at the end
6
Q
What is non-directiveness?
A
- provide information in a non-directive way
- decision making is up to individual being counselled
- after being fully informed
7
Q
What is engaged or active non-directive approach?
A
- challenging patients by asking to consider important factors
- what if scenarios
