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Genetic Counseling Boards > Genetics Research > Flashcards

Genetics Research Flashcards

1
Q

Medical Genetic Research

A
  • experimental studies
  • higher quality
  • lower volume of evidence
  • shorter interval between time of intervention to outcome
  • individual decision-making
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2
Q

Public Health Genomics Research

A
  • quasi-experimental studies
  • lower quality
  • higher volume of evidence
  • longer interval between time of intervention to outcome
  • group decision-making
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3
Q

Incidence

A
  • rate
  • # new cases/population at risk
  • measured over period of time
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4
Q

Prevalence

A
  • # new cases/# people in population

- measured at specified time point/time period

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5
Q

Experimental Studies

A
  • researcher controls who is exposed and who is not

- provide strongest evidence of causal association between exposure and disease/outcome

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6
Q

Observational Studies

A
  • researcher simply observe what happens to those exposed

- exposure can occur by choice or by chance

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7
Q

Prospective Studies

A

data collected before disease/outcome occurred

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8
Q

Retrospective Studies

A

data collected after disease/outcome occurred

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9
Q

Longitudinal Studies

A

occur over a span of time

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10
Q

Cross-Sectional Studies

A

looks at one point in time

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11
Q

Ecologic Studies

A

type of cross-sectional study that looks at how community is exposed

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12
Q

Cohort Studies

A
  • sampling population based on exposure to calculate relative risk
  • longitudinal study as cohort followed over time
  • compared exposed and non-exposed individuals with respect to outcome
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13
Q

Case-Control Studies

A
  • sampling population based on outcome to calculate odds ratio
  • cases have outcome and controls do not but could have gotten it
  • cross-sectional study as data collected at one point in time
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14
Q

Randomized Clinical Trials

A
  • experiments designed to look for cause and effect relationships
  • type of cohort study
  • assignment of exposure to participant is randomized
  • single blind: study participants do not know group they’re in
  • double blind: study participants and researchers assessing outcomes don’t know groups
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15
Q

Internal Validity

A
  • how well exposure and outcome measure
  • how well study population selected and controlled
  • was study designed well to reduce error
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16
Q

Random Error

A

probability that observed result is due to chance

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17
Q

Bias

A

systematic error committed by investigator during course of study

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18
Q

Confounding

A

association due to a third factor that is both related to the exposure and the outcome but is not an intermediate step in causal pathway between exposure and outcome

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19
Q

External Validity

A

generalizability of results to other groups

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20
Q

Effect Modifier

A
  • third variable alters effect of exposure on disease
  • synergistic effect: positive interaction
  • antagonistic effect: negative interaction
21
Q

Relative Risk

A
  • incidence in exposed/incidence in non-exposed
  • (TP / (TP+FP))/(FN / (FN+TN))
  • RR = 1, risk in exposed is equal to risk in non-exposed
  • RR > 1, risk in exposed > risk in non-exposed
  • RR < 1, risk in exposed < risk in non-exposed
22
Q

Attributable Risk

A
  • how much exposure actually causing outcome
  • incidence in exposed-incidence in non-exposed
  • (TP / (TP+FP)) - (FN / (FN+TN))
23
Q

Odds Ratio

A
  • measure of association between exposure and outcome; odds a case was exposed compared to control
  • odds cases exposed/odds controls exposed
  • TPTN/FPFN
  • OR = 1, no association
  • OR > 1, positive association, risk factor
  • OR < 1, negative association, protective factor
24
Q

Phase I Clinical Trials

A

assesses safety and effects of drug using small study group of healthy volunteers

25
Q

Phase II Clinical Trials

A

tests efficacy of drug and placebo introduced for comparative results

26
Q

Phase III Clinical Trials

A

randomized and blind testing to allow for more detailed understanding of drug’s effectiveness, benefits, risks; FDA approval requested

27
Q

Phase IV Clinical Trials

A

monitors long-term effectiveness and compares drugs with others on market; determines cost-effectiveness and drug approved for consumer sale

28
Q

Null Hypothesis

A

intervention will have no effect

29
Q

Alternative Hypothesis

A
  • intervention will have an effect, either good or bad (two-tailed test)
  • intervention will help (one-tailed test)
30
Q

Equipoise

A

ethical principle where must be genuine uncertainty about which treatment better

31
Q

Alpha

A

probability of making type I error

32
Q

Beta

A

probability of making type II error

33
Q

Type I Error

A

concluding treatment makes a difference when it really does not

34
Q

Type II Error

A

concluding treatment does not make a difference when it really does

35
Q

Power

A
  • 1-beta
  • probability of correctly concluding treatment makes difference or probability of detecting difference when it exists
  • small alpha means larger beta and smaller power
36
Q

Quantitative Research

A
  • means for testing objective theories by examining the relationship among variables
  • variables measured on instruments so numbered data can be analyzed using statistical procedures
37
Q

Qualitative Research

A
  • means for exploring and understanding meaning individuals/groups ascribed to social or human problems
  • process of research involves emerging questions and procedures, collecting data in participants’ settings, analyzing data inductively, building from particulars to general themes, and making interpretation of meaning of data
  • often longitudinal
38
Q

Mixed Methods Research

A
  • approach to inquiry that combines or associates both qualitative and quantitative forms of research
  • intermethod mixing: use of more than one method of data collection
  • intramethod mixing: use of single method of data collection to obtain qualitative and quantitative data
39
Q

Literature Review

A
  • surveys scholarly articles, books, and other sources relevant to particular issue, area of research, or theory providing a description, summary, and critical evaluations of each work
  • does not report original research
40
Q

Research Process

A

topic -> research questions -> study design -> data collection -> analysis -> dissemination of findings

41
Q

Institutional Review Board (IRB)

A
  • systematic investigation designed to develop/contribute to generalizable knowledge
  • protect human subjects
  • based on 4 pillars of medical ethics: autonomy, beneficence, nonmaleficence, justice
42
Q

Vulnerable Populations

A

prisoners, children, fetuses, economically/educationally disadvantaged

43
Q

Categories of IRB Review

A
  • exempt: does not qualify as research with human subjects
  • expedited: poses no more than minimal risk
  • full: poses more than minimal risk, vulnerable population
44
Q

3 Areas of Ethical Concern for Research

A
  • relationship between society and science; extent to which societal concerns and cultural values should direct course of research
  • professional issues; research misconduct
  • treatment of research participants
45
Q

Accepted Professional Norms in Research

A

honesty, accuracy, efficiency, objectivity

46
Q

Conflict of Interest

A
  • conflict between private interests and official responsibilities of person in position of trust
  • financial gains or promotions
  • working for company that funds or directly conducts study
  • statements demonstrate authors have considered potential for bias and have made attempts to minimize them
47
Q

Genome Wide Association Studies

A
  • case-control studies that look at people with disease (cases) and those without (controls) in conjunction with SNPs across genome to see if any more or less likely to be found in either group
  • P-value <5*10-8 to reduce false positive rate
  • significance of association not same as strength of association nor does it indicate clinical significance
  • most variants identified account for only small fraction of known genetic variation
  • success found in pharmacogenomic applications
48
Q

T/F: Federally funded dried blood spot research (from NBS) is considered human subject research that requires parental consent

A

True

Genetic Counseling Boards (22 decks)

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