Week 8 Flashcards
What are the three Ethical models?
Utilitarian ethics - what is the majority?
Code of conduct - Doing your duty…
Virtue ethics - How does a decent person act?
Ethical principles in genetic/ genomic healthcare?
Autonomy_difficult they might need help
Beneficence_ you might impact someone in the family
Non-maleficence _doing no harm
Justice
Needs principles
People that need it the most
Maximum principles
is the maximise wellbeing
Combination principles
Combine maximum health with equal lifetime health expectancy
Egalitarian principles
Humans are equally, should all get the same treatment
Independent committees
Chairs At least 2 lay members Health and social care professionals Care providers Technical experts
ICER
I - Incremental: extra, additional
C - Cost: How much do we have to pay?
E - Effectiveness: what do we get in (QALY)
R - Ratio: unit per unit e.g. km/h - we used cost per QALY
What is QALY?
- Combines both length of life and health-related quality of life (QA) into a single measure of health gain
- The amount of time spent in a health state is weighed by the quality of life score attached to health state
- QoL is usually scored with ‘perfect health’=1 and death=0
Consideration beyond efficacy
Shouldn’t just be about the relative costs and benefits alone
What type of condition is cystic fibrosis?
Rare Autosomal recessive condition, life shortening disease, Affecting lungs, liver, gastrointestinal tract, sinuses, sweat, pancreas and the reproductive system.
What causes the symptoms of Cystic Fibrosis?
An abnormally sticky mucus, which is caused by a defective Cystic Fibrosis Transmembrane conductance Regulator protein. Which is normally involved in pumping chloride ions.
What causes cystic fibrosis in the airways?
Chloride secretion is diminished due to the absence or impaired CTFR, resulting in more sodium being absorbed in to the cell alongside water dehydrating the airway, which causes the thick sticky mucus
What causes the salty skin in Cystic fibrosis?
The epithelial cells can’t reabsorb the chloride ions and therefore the sodium is also not reabsorbed.
What is the Class I CFTR mutation?
It could be caused by nonsense, frameshift or a splice mutation. Leading to a premature stop codon, forming unstable truncated RNA which is degraded. No protein on surface. (16.4%)
What is the Class II CFTR mutation?
Caused by a missence mutation or an amino acid deletion, leads to mis-folding, and get degraded (Known as a trafficking defect). No protein on surface. Phe508del (80%)
What is the Class III CFTR mutation?
Caused by a missence mutation or an amino acid change. Means the channel can’t open or close.
What is the Class IV CFTR mutation?
Caused by a missence mutation or amino acid change. Meaning there is decreased channel conductance of chloride ions.
What is the Class V CFTR mutation?
Caused by a splicing defect or a missence mutation. Get reduced amount of the correct protein, so there is less on the surface.
What is the Class VI CFTR mutation?
Caused by a missence mutation and amino acid change. the protein works and is produced however doesn’t retain membrane stability.
What was the older treatments of CFTR?
Treating the symptoms, such as antibiotics, keeping up to date on flu jabs, digestive system, diet and nutrition. airway clearance and lung transplant
What are the targets cystic fibrosis?
Reduction in protein function in the class 3 and 4 CFTR mutations, potentiators. Reduction in amount of Type 1, 2, 5, 6 such as correctors and production correctors.
What are potentiators as a target for class 3 and 4 CFTR mutations?
Increase the activity of defective CFTR at the cell surface. Potentiators can either act on gating or conductive defects
What are the correctors as a target for class 1, 2, 5, and 6 CFTR mutations?
Overcome defective protein processing that normally results in the production of mis-folded CFTR. This allows increased trafficking of CFTR to the plasma membrane.