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N473 > Exam 2 - Week 1 > Flashcards

Exam 2 - Week 1 Flashcards

1
Q

What is the study of single genes. Defined as the study of single genes and their effects?

A

genetics

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2
Q

What is a more complex term, The study of the functions and interactions of all the genetic material in the genome – including interactions with environmental factors?

A

genomics

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3
Q

What does the human genome project seek to do?

A

to map all the DNA in a human cell.

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4
Q

What is the complete set of genes in an organism?

A

genome

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5
Q

What techniques made the HGP possible?

A
  1. DNA sequencing
  2. PCR
  3. Electrophoresis
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6
Q

What are 3 results of the HGP?

A
  1. Estimated 20,500 genes in human genome
  2. Discovered order and location of all genes
    a. Research on functions is ongoing
  3. Massive source of info for science and medicine
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7
Q

What is a multidisciplinary field using population-based data on genetic variation and gene-environment interactions to develop, implement, and evaluate evidence-based tools for improving health and preventing disease?

A

public health genomics

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8
Q

What 2 activities does public health genomics include?

A

i. Conducting surveillance of diseases or conditions with a known genetic component, such as birth defects. Surveillance efforts are expanding to include cancers with a genetic component and other more common disorders.
ii. Performing epidemiological studies that allow researchers to examine gene-gene and gene-environment interactions to better aid in the identification of genetic risk factors for common, complex diseases such as cardiovascular disease, asthma, and diabetes” (CDC, 2004)

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9
Q

What other things does public health genomics include?

A

i. Developing programs and policies, such as population-based screening recommendations
ii. Educating health care providers and the public about genomics. This might include public health campaigns, increased awareness through seminars or other educational channels, or presentations such as this one.
iii. Assuring the availability of and access to genetic services such as genetic testing and medical evaluation for genetic conditions
iv. Evaluating genetic tests and services. This includes examining the analytic validity, clinical validity and clinical utility of genetic tests.

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10
Q

What does the analytic validity of a genetic test define?

A

its ability to accurately and reliably measure the genotype of interest

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11
Q

What does the clinical validity of a genetic test define?

A

defines its ability to detect or predict the associated disorder (phenotype)

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12
Q

What does the clinical utility of a genetic test define?

A

the elements that need to be considered when evaluating the risks and benefits associated with its introduction into routine practice

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13
Q

What are 5 misperceptions about genomics?

A
  1. The role of genomics has in revolutionizing medicine and public health is all hype.
  2. Genomics is not relevant to public health [and community health nursing practice].
  3. We are our genes. In other words, genetic susceptibility equals health destiny - and if we can’t change our genetic make-up, genomic information isn’t useful in public health.
  4. The are no risk-reducing preventive interventions based on genomic information.
  5. We should wait to learn more about genomics until we learn more about the role genetics plays in disease. The science is just not ready.
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14
Q

What is the first reality of public health?

A

genetics is relevant to public health and it can be used in public health practice.

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15
Q

What is the second reality of public health?

A

there has been a lot learned through the human genome project, and research stemming from it. But there is still a lot more to be learned.

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16
Q

true or false: genomics isn’t relevant to their area of work.

A

false

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17
Q

What are the top 10 leading causes of death?

A
  1. heart disease
  2. cancer
  3. cerebrovascular disease
  4. chronic lower respiratory disease
  5. accidents/unintentional injuries
  6. diabetes
  7. pneumonia/influenza
  8. Alzheimer’s disease
  9. kidney disease
  10. suicide
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18
Q

What 2 things are the leading causes of death in the U.S. related to?

A
  1. genetic

2. environmental factors

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19
Q

What are most of the common chronic diseases that affect the majority of the population actually caused by?

A

a combo of genetic and environmental factors

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20
Q

What is an example of an injury that is both genetic and environmental?

A

accidents

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21
Q

What does gene susceptibility not equal?

A

health destiny

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22
Q

What does genomics make more effective by allowing genetic, behavioral, and environmental factors to be addressed?

A

interventions

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23
Q

What are examples of where an individual may modify screening and/or medical monitoring based upon family history info which reflects consequences of genetic?

A
  1. In cases where there is a family history of colon cancer, screening recommendations might be modified to begin screening earlier and/or more frequently than the recommendations for the general population.
  2. In incidences where the family history of colon cancer susceptibility suggests a dominant pattern of inheritance, or if there is a strong family history of other cancers in the family, a referral for cancer risk evaluation and counseling about genetic testing for specific cancer susceptibility genes might be useful.
  3. By including what we know about genetic susceptibilities within public health messages, we make a population message more personalized and can influence the recommendations made for that individual” (CDC, 2004).
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24
Q

What are examples of interventions where you could focus on modifying exposures to environmental factors that may interact with known genetic susceptibilities?

A

a. One intervention might be to screen individuals with significant exposure to pesticides for genetic variants of peraoxonase.
b. Another might be to reconsider allowable levels of pesticide exposure to ensure they are safe for all workers”

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25
Q

What are examples of interventions where genetic susceptibility information might also have the potential to make public health interventions that promote positive health behavior changes more effective?

A
  1. adopting a healthier diet
  2. engaging in exercise
  3. kicking a smoking habit
  4. or abstaining from alcohol
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26
Q

true or false: at an individual level it might be possible that public health interventions based upon genetic susceptibility information, may be more effective because of the personal nature of such information.

A

true; because consider a person who has had several family members develop heart disease at an early age. Perhaps having some understanding of the connection between this family history and the individual’s risk of heart disease might increase his or her motivation to adopt healthier behaviors, such as diet modification and increased physical activity.

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27
Q

What happened in the summer of 2003?

A

a biotechnology company began a consumer marketing campaign for breast and ovarian cancer susceptibility testing.

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28
Q

What was what happened in the summer of 2003 the first time for?

A

the first time an established genetic test has been marketed directly to the public, and this campaign is likely to be a prototype for direct-to-consumer marketing of genetic tests in the future.. NOT GOOD

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29
Q

So, if it is not too soon to incorporate genomics into public health practice, what can we, as public health professionals, do?

A

Educate ourselves and our constituencies on how genomics can be used to address public health problems.

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30
Q

What are 2 types of alterable risk factors?

A
  1. behavior

2. diet

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31
Q

What are 2 non-alterable risk factors?

A
  1. age

2. genotype

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32
Q

What 3 things should public health do?

A
  1. take into consideration risk factors that are alterable, such as behavior and diet, as well as those which are not, such as age and genotype.
  2. play a role in supporting the development and enactment of sound policies regarding advancing genetic technologies with particular considerations of associated ethical, legal, and social issues.
  3. public health should develop and enhance partnerships to address the many issues arising out of this post-genomic era and guide public health activities.
33
Q

What are the 5 challenges to integrating genomics into public health practice?

A
  1. lack of population data
  2. rapid commercialization of genetic tests
  3. ensuring quality of lab testing
  4. Potential discrimination against and stigmatization of individuals and groups
  5. public and professional education
34
Q

What are 2 public health programs that use biological family history as a way to identify individuals and families at increased risk of disease?

A
  1. family tree

2. Surgeon General’s Family Health History Initiative

35
Q

What does a family history reflect?

A

the influence of factors that are shared between family members.

a. environmental factors
b. genetic factors

36
Q

What does a family history tool collect? track?

A

a. collects genomic info

b. tracks the relationships between family members

37
Q

What can family history tools document?

A

behaviors and conditions that are associated with poor health outcomes (obesity, diet, smoking, exercise habits)

38
Q

What do family history tools collect info on?

A

a. social situations

b. cultural norms that may impact health

39
Q

What is the gold standard for documenting a family history?

A

pedigree

40
Q

What does a pedigree document?

A

all types of info in a graphic format that can be continually updated as new info becomes available

41
Q

Circles represent what in pedigrees?

A

females

42
Q

squares represent what in pedigrees?

A

males

43
Q

What does a line drawn between a circle and square mean?

A

marriage or mating

44
Q

What does a sibship line connect in a pedigree?

A

the offspring of this union - indicating they have the same parents

45
Q

What is general information that is included for a person in a pedigree?

A

a. age or date of birth
b. age or date of death
c. ancestry
d. those medical conditions which are known to be associated with family history.

46
Q

What does date of death look like on a pedigree?

A

diagonal line drawn through symbol

47
Q

What are 3 disadvantages of the pedigree?

A

a. It requires some skill and practice for effective use.
b. It is very time consuming to administer. A detailed pedigree on the average family can take 20 or 30 minutes, which may be impractical and expensive.
c. The data collected in a pedigree format may be difficult to code in formats that are easily analyzable.

48
Q

What is one tool used for the public’s use?

A

Utah Health Family Tree Study

49
Q

Why was the Utah Health Family Tree Study created?

A

This study adapted the pedigree format into a tool to identify families at risk for later onset chronic diseases.

50
Q

What is the information used for in the Utah Health Family Tree Study?

A

used for personalized public health interventions aimed at preventing disease.

51
Q

What really is the Utah health family tree?

A

the tree is really a pedigree, in which you can readily see the relationships of the family members.

52
Q

What is the Utah health family tree limited to?

A

chronic diseases and their associated risk factors.

53
Q

What do the chronic diseases in a Utah health family tree have?

A

a multifactorial etiology

54
Q

What does a multifactorial etiology mean?

A

both genetic susceptibility and environmental factors may influence incidence and severity of disease.

55
Q

What are 5 benefits of the Utah family tree?

A

a. By collecting the information in this type of format, the power of the pedigree can be preserved while some of the disadvantages can be alleviated.
b. The data is easy to code and is collected by the family members themselves.
c. The information can be analyzed to identify patterns of chronic disease or risk factors within families and to identify families at an increased risk for chronic disease.
d. Based on this information, appropriate interventions can be implemented and have been shown to have positive effects on reducing risk factors and improving healthy behaviors
e. Entirely online

56
Q

About the Utah family history tree study:

A

This study looked at a population of 16,000 families that were screened with the Utah Health Family Tree.

57
Q

What were the interventions in the Utah family history tree study:

A
  • The interventions utilized were based on standard of care protocols for prevention or treatment of specific conditions.
  • The interventions emphasized strategies to reduce risk, such as counseling on lifestyle and behavior change, and referral for primary or specialty care and additional screening, as appropriate.
58
Q

Scoring and data for the Utah family history tree study:

A
  • Families that were identified as being at high risk for developing a chronic disease were scored on several behaviors that are correlated with the prevention or early diagnosis of chronic disease.
    o These families were compared with control families that had family risk scores in the average range.
  • Over the four years that data were collected, there was an improvement in health behaviors in both groups, but the most marked improvement was in the high-risk family group.
    o For example, at the time when they first came to attention due to screening, only thirty five percent of families had an annual medical exam, compared to seventy five percent of control families.
  • After four years of annual follow up, almost ninety percent of both high risk and control families were having an annual medical checkup.
  • The data are also striking for parameters related to regular monitoring of blood pressure levels, weight loss, exercise and healthy diet”
59
Q

What were the methods of the Utah family history tree study:

A
  • These families were followed annually with a questionnaire to track intervention effectiveness over time, and as a mechanism to reinforce health behaviors for several years.
60
Q

What were the 3 results of the Utah family history tree study:

A
  • In these families, about 10% were determined to have a strong, positive family history for a preventable condition and were contacted with these results and offered a personalized public health intervention.
  • Of the high risk families, 95% were contacted by a community health nurse and 65% of these received one in-home visit for counseling and referral.
  • An equal number of families were determined to be at-risk for developing chronic disease and were also followed annually with the same questionnaire, but did not receive any other intervention.
61
Q

What is the Surgeon General’s family Health History Initiative:

A
  1. This initiative developed a computerized screening tool that laymen can use to create a sophisticated portrait of their family’s health.
62
Q

What is the latest version of the Surgeon General’s family Health History Initiative:

A

My Family Health Portrait.

63
Q

Since 2004, the Surgeon General has declared what?

A

Thanksgiving as Family History Day.

64
Q

What does the declaration by the surgeon general bring awareness to?

A

to the importance a family health history and encourages families (when they are sitting down together for a large unhealthy meal) to learn about and document their family’s health history.

65
Q

What can family members do with Family history day?

A

Family members can then share their family history with their primary care providers and discuss benefits and disadvantages of interventions addressing identified health risks

66
Q

What is great about family tree and health history initiative?

A

Initiative address all 3 of the disadvantages of a pedigree:

  1. They are much easier to use
  2. do not take as much of a professional’s time
  3. are easier to analyze.
67
Q

What is the goal of genomics in healthy people?

A

a. Improve health and prevent harm through valid and useful genomic tools in clinical and public health practices.

68
Q

What do genomics topic area and objectives for 2020 reflect?

A

scientific evidence supporting the health benefits of using genetic tests and family history to guide clinical and public health interventions

69
Q

What are genomics objectives based on?

A

2 recommendations

70
Q

What are the 2 recommendations for the genomics objectives?

A
  1. Women with certain high-risk family health history patterns for breast, ovarian, tubal, or peritoneal cancer could benefit from receiving genetic counseling to learn about genetic testing for BRCA1/2.
  2. All people who are newly diagnosed with colorectal cancer should be offered testing for a hereditary form of colorectal cancer called Lynch syndrome.
71
Q

Why is genomics important?

A

a. Genomics play a role in 9 of the 10 leading causes of death:
i. Heart disease
ii. Cancer
iii. Stroke
iv. Diabetes
v. Alzheimer’s
b. Genetic tests for the leading causes of death and disability are becoming available. Family health history features prominently in a number of evidence-based recommendations.
c. The U.S. Food and Drug Administration requires genetic testing to guide the use of many drugs. The Centers for Medicare and Medicaid Services provides coverage for certain genetic tests.
d. As scientific evidence on the health benefits of available tests and interventions is strengthened, new evidence-based recommendations will emerge.
e. Evidence-based recommendations, like those from the USPSTF, can have an impact on access and use of genetic services.

72
Q

What is cool about genomics and common diseases?

A

Traditionally, public health applications of genomics have focused on rare diseases, such as those identified through newborn screening programs. Much of the future promise of genomics rests on its application to common diseases.

73
Q

How can genetic tests have the potential to improve health?

A

Genetic tests have the potential to improve health in a variety of ways by informing health care through:

i. Risk prediction
ii. Prevention
iii. Diagnosis
iv. Treatment, including choice of medication and dosage
v. Prognosis

74
Q

How can non valid genetic test hurt someone?

A

Genetic tests that are not valid or useful have the potential to cause harm by prompting inappropriate changes in medical care based on incomplete or incorrect information.

75
Q

How does family health history have the potential to improve health?

A

Family health history has the potential to improve health by identifying people who are at risk for disease in the future or who are already sick but have not been diagnosed.

76
Q

What are some challenges with new genomic technology?

A

i. It is becoming increasingly difficult for independent review panels to evaluate quickly and thoroughly the evidence of the proposed health benefits and harms of the fast-growing number of genetic tests and family health history tools.
ii. As the number of recommended genetic tests increases, valid and reliable national data are needed to establish baseline measures and track progress toward targets. Many tests are recommended for use in small subpopulations, making it difficult for most national health information systems, such as the National Health Interview Survey (NHIS), to monitor progress.

77
Q

What may the development of new Healthy people objectives in genomics be hindered by?

A

a. evidence-based practice recommendations

b. national data to monitor progress

78
Q

Many opportunities and challenges for realizing the promise of genomics to improve health outcomes lie ahead, including what?

A

i. Creating and evaluating scientific evidence to support valid and useful genetic tests and family health history tools
ii. Developing evidence-based practice recommendations that evaluate the net health benefit of genetic tests and family health history tools
iii. Conducting research on how to translate recommendations into practice
iv. Facilitating the use of valid and useful genetic tests and family health history tools to guide clinical practice, policy, and national, state, and local programs to find people who are at risk for disease, make diagnoses, and provide appropriate interventions
v. Monitoring the use of genetic tests and family health history in populations, the health outcomes related to their use, and disparities in their use and outcomes
vi. Adding genomic information and clinical decision support tools to electronic health records
vii. Incorporating health-related genomics education in primary, secondary, undergraduate, and graduate curricula
viii. Assuring the privacy and confidentiality of genomic information

79
Q

How can you accomplish addressing these issues?

A

will require the coordinated and collaborative efforts of both the public and private sectors.

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