Lecture 9 Flashcards
What are the policy implications of genetic tests
Autonomy
Confidentiality
Privacy
Equity
Policy
Ehtics
Whats the difference between confidentiality and privacy
Privacy is your right to confidentiality people are give information in confidence using health care
What is genetic screening
Performed in the general population; early detection, monitor risk (you go looking for risk factors)
What is genetic testing
Applies to individuals who are seen as having a higher probability of having a particular condition; determine presence/absence once you have symptoms you are no longer screening
What is specificity
Is the ability to correctly rule out disease
What is sensitivity
The ability to correctly pick up positive cases
So what is a specific result
You test for a disease and it show that diesease is negative you actually don’t have the disease this is specific
What is a sensitive case
Ability to ID positive cases so a true positive
What is the PPV value
Positive predictive value is a ratio of the true positives and relative to true/false positvies (a/a+b)
What is the negative predicitive value
NPV a ratio of the true negatives numerator realtive to true/false negative D/D+C
What is the concept of normality
It is determining what is normal or abnormal which will allow you to than make polices from that who make it could be cultural or society but no test exists of what is normal
What is eugenics
In 1880 by charles darwin cousin to remove certain genes from the population considered good birth
What else has been used to improve animals and plants
Selective breeding
Who justified screening
WHO 1968
When is screening justified
- If it is important health problem (volume, extensive health care costs)
- Accepted treatment (not ethical to go looking for something if you can’t do anything about it)
- Facilities for diagnosis and treatment
- Recognizable (can identify it early)
- Suitable test or exam
- Test is acceptable to the population
- Natural history is known
- Agreed who can be treated
- Case finding is economically balanced (what is the better choice)
- Continuing process (not just a point in time)
Who is the father of genetic screening
Dr.Robert Guthrie
What is PKU how do you test it
Causes brain damage if you injest phenylalanine you use the heel test
What is the heel test replaced with
Mass-spectroscopy
What is the 10 criteria to use screening methodologies
Identiy Objective
Feasibiliity
Propensity (doing something relative to risk)
Significance of Disease - large number of rare diseases
Benefit of treatment
Consent (right to be ignorant)
Regulation
Values
Cost
What is refuse without prejudice
If you say no to screening you will not be treated any different in the future
When do we screen
Prenatal
Newborn
Huntingtons
Under-writting
Medical questions evaluate your risk for insurance
What do you screen for in ontario
Trisomy 21
Trisomy 18
What is the right to remain ignorant
Genetic information doesn’t just effect the person who did the test do we share do we not to share
What is the right of privacy and the right to know
You are allowed to find out and the right to privacy telling people
What is incidental finding
It is not part of the study but it is found throughout the study
What is material
Information you find out about you put also for groups of people it has to be valid significant and actionable
Must you report incidenetal findings
YES
When do you report findings
Valid
Significant
Actionable (if you can’t do anything about it then you don’t have to report it)
What are ethical principles
Respect
Beneficence
Non-maleficine
Justice
Autonomy
What are potential downsides of genetic testing
Test interpretation - society and people within society is complex if you are well it is hard to see if something is wrong
Lack of options to treat- what is the value in uncovering this
Danger to employment and insurance
Psychological impact - not a consintent value across individuals
What is moral hazard
Preventing people from knowing there risks they become less concered about the negative aspects and changes the health care
What is co-pay
Small portion of the overall cost to make you more in tune in what you are getting
What is prospect theory
In human nature we react different to gains than to losses people make decisions asses risk on probalibtiles whcih may or may not be true
Do people over or under esitmate disease
Under
Do people over estimate or under estimate in accidents
Over
What is confidentiality
Data is identiafiable but it is kept safe and only used by the people that need to use it
What is discrimination
People are treated differently by their employer or insurance company because they have a gene or mutation increase risk of inherited disorder
What is GINA
Prevents insurers you can not use genetic information to deterime is eligible for insurance or underwritting
What is GDNA
Protects Canadians from discrimination based on genetic characteristics can’t be demanded or used agains someone
What does GDNA not apply to
Family history, diagonsis or mainfested disease or symptoms
What do they screen for newborns
Congenital
Sickle Cell Anemia
Krabbe Disease
Duchenne Muscular Dystrophy
Cystic Fibrosis
( it is not more specific)
What are the 4 cancer screening programs
Colon Cancer Check
Ontario Breast Screning
Ontario Cervical
Ontario Lung
