Lecture 9 Flashcards

1
Q

What are the policy implications of genetic tests

A

Autonomy
Confidentiality
Privacy
Equity
Policy
Ehtics

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2
Q

Whats the difference between confidentiality and privacy

A

Privacy is your right to confidentiality people are give information in confidence using health care

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3
Q

What is genetic screening

A

Performed in the general population; early detection, monitor risk (you go looking for risk factors)

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4
Q

What is genetic testing

A

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

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5
Q

What is specificity

A

Is the ability to correctly rule out disease

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6
Q

What is sensitivity

A

The ability to correctly pick up positive cases

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7
Q

So what is a specific result

A

You test for a disease and it show that diesease is negative you actually don’t have the disease this is specific

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8
Q

What is a sensitive case

A

Ability to ID positive cases so a true positive

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9
Q

What is the PPV value

A

Positive predictive value is a ratio of the true positives and relative to true/false positvies (a/a+b)

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10
Q

What is the negative predicitive value

A

NPV a ratio of the true negatives numerator realtive to true/false negative D/D+C

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11
Q

What is the concept of normality

A

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

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12
Q

What is eugenics

A

In 1880 by charles darwin cousin to remove certain genes from the population considered good birth

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13
Q

What else has been used to improve animals and plants

A

Selective breeding

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14
Q

Who justified screening

A

WHO 1968

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15
Q

When is screening justified

A
  • 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)
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16
Q

Who is the father of genetic screening

A

Dr.Robert Guthrie

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17
Q

What is PKU how do you test it

A

Causes brain damage if you injest phenylalanine you use the heel test

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18
Q

What is the heel test replaced with

A

Mass-spectroscopy

19
Q

What is the 10 criteria to use screening methodologies

A

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

20
Q

What is refuse without prejudice

A

If you say no to screening you will not be treated any different in the future

21
Q

When do we screen

A

Prenatal
Newborn
Huntingtons

22
Q

Under-writting

A

Medical questions evaluate your risk for insurance

23
Q

What do you screen for in ontario

A

Trisomy 21
Trisomy 18

24
Q

What is the right to remain ignorant

A

Genetic information doesn’t just effect the person who did the test do we share do we not to share

25
Q

What is the right of privacy and the right to know

A

You are allowed to find out and the right to privacy telling people

26
Q

What is incidental finding

A

It is not part of the study but it is found throughout the study

27
Q

What is material

A

Information you find out about you put also for groups of people it has to be valid significant and actionable

28
Q

Must you report incidenetal findings

A

YES

29
Q

When do you report findings

A

Valid
Significant
Actionable (if you can’t do anything about it then you don’t have to report it)

30
Q

What are ethical principles

A

Respect
Beneficence
Non-maleficine
Justice
Autonomy

31
Q

What are potential downsides of genetic testing

A

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

32
Q

What is moral hazard

A

Preventing people from knowing there risks they become less concered about the negative aspects and changes the health care

33
Q

What is co-pay

A

Small portion of the overall cost to make you more in tune in what you are getting

34
Q

What is prospect theory

A

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

35
Q

Do people over or under esitmate disease

A

Under

36
Q

Do people over estimate or under estimate in accidents

A

Over

37
Q

What is confidentiality

A

Data is identiafiable but it is kept safe and only used by the people that need to use it

38
Q

What is discrimination

A

People are treated differently by their employer or insurance company because they have a gene or mutation increase risk of inherited disorder

39
Q

What is GINA

A

Prevents insurers you can not use genetic information to deterime is eligible for insurance or underwritting

40
Q

What is GDNA

A

Protects Canadians from discrimination based on genetic characteristics can’t be demanded or used agains someone

41
Q

What does GDNA not apply to

A

Family history, diagonsis or mainfested disease or symptoms

42
Q

What do they screen for newborns

A

Congenital
Sickle Cell Anemia
Krabbe Disease
Duchenne Muscular Dystrophy
Cystic Fibrosis
( it is not more specific)

43
Q

What are the 4 cancer screening programs

A

Colon Cancer Check
Ontario Breast Screning
Ontario Cervical
Ontario Lung