1. Genomics and You “What is it and why now?” ACTIVITY: KNL Charts
Before we get into our discussion, what do we “KNOW” about genomics? What first comes to mind when you hear genomics? And finally what do you think we “NEED” to know about genomics? Have participants work in groups and write on KNL chart, everything they know or think they need to know about genomics.
ACTIVITY: KNL Charts
The reason for this activity is to show you that everyone is at different levels of genomics understanding. It has taken me 8 months to figure out what genomics means and even now I am far from a “genomic genius”. Figuring out how genomics and public health coincide will take time, discussion, and lots of trial and error. But the great thing about genomics is that it’s already a part of public health and your job, you just might not have realized it!

2. Overview Genetics vs. Genomics Misperceptions
Applicability to public health
Challenges
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We will be defining some key terms: genetics and genomics. What’s the difference between the two? And what does public health genomics mean?
It is also important to identify misperceptions we may have about genomics. This will help us identify barriers that may need to be explored further.
We will also be discussing, how genomics applies to public health activities. Why should we worry about genomics? What does genomics have to do with my job? My program?
And finally what are some of the challenges public health will have to overcome in order to incorporate genomics into everyday practice?

3. Genetics vs. Genomics
Genetics: study of single genes and their effects (cystic fibrosis)
Genome: all the genetic material (DNA) of an organism
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The term “genetics” has been traditionally defined as the study of single genes and their effects. Think of diseases such as cystic fibrosis or Huntington’s Disease. People affected with the Huntington’s gene will get the disease no matter what lifestyle or environmental changes they make, at least at the current time.
However with emerging technology, scientists are now beginning to unravel the mysterious of the genome. The term “genome” refers to all the genetic material or DNA in our bodies. The Human Genome Project has accomplished a huge feat, sequencing the entire human genome. Scientists have also begun identifying the estimated 30,000 genes in the genome. This task was completed in April of 2003 and is predicted to bring about a tidal wave of new genomic information into all areas of disease prevention, including public health.
Other information on the Human Genome Project:
*Collaboration that began in 1990 between NIH and the U.S. Department of Energy
*Goals 1) Sequence DNA of entire human genome 2) Identify all the genes 3) Create databases and tools for analysis and sequencing 4) Address the ELSI surrounding this project
*Genome sequenced with an accuracy of 99.99% with less than 1 mistake every 10,000 letters!!!
*Within the human genome, it is estimated that there are 3 billion base pairs of DNA and 30, ,000 genes

4. Genetics vs. Genomics
Genomics: study of all the genes in the genome, including their interactions with environmental factors (heart disease, asthma)
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These genetic advances will improve our understanding of how genes and environmental factors interact to cause disease. The term “genomics” refers to this more complex model of health and disease.
“Genomics” for our purposes, is defined as the study of all the genes in the genome, including their interactions with environmental factors and even interactions with other genes. Common, chronic diseases such as asthma, diabetes, cancer, and heart disease are caused by gene-environment interactions.
So “genetics” is the study of single genes and their effects, while “genomics” is the study of all the genes and their interactions with environmental factors.

5. Math activity:
Genomics = Genes + Environment + Genes
Or you can represent this with a triangle:
Genomics on top then Genes on left hand side and Environment on right hand side

6. Misperceptions
“Genomics isn’t relevant to me or the area of public health in which I work”
Did you know that …
Now that we have some idea of how genomics can apply to us, let’s discuss some of the misperceptions we may have on genomics. These are important to recognize because it may help us address barriers associated with integrating genomics into public health activities.
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The first misperception is that “Genomics isn’t relevant to me or the area in public health in which I work”. Genetics has been linked to areas such as newborn screening and children with special health care needs for decades. But what about common, chronic diseases such as heart disease, arthritis, cancer, and diabetes? These diseases affect a large proportion of people each year both in terms of mortality and morbidity.
Well did you know that 9 of the top 10 leading causes of death in the U.S. in 2000, have a known genetic component?
9 of the top 10 causes of death in the U.S. have a genetic component?

7. Top 10 Causes of Death in the U.S. (2000)
Heart Disease
Cancer
Cerebrovascular Disease
Chronic Lower Respiratory Disease
Accidents/Unintentional Injuries
Diabetes
Pneumonia/Influenza
Alzheimer’s Disease
Kidney Disease
Septicemia
Let’s take a look at this list closer. We all know that these diseases all have significant public health impact. How might genomics relate to Accidents/Unintentional Injuries? Are genes involved in accidents?
Possible answers:
*Nearsightedness or color blindness are genetic. These may be a factor in car accidents.
*Preliminary studies that might show a genetic predisposition to risk taking behaviors, suicide tendency, or violence.

8. Misperceptions “Genetic susceptibility equals health destiny”
Diseases can be caused solely by genetics. However, most diseases are caused by gene-environment interactions
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The next misperception is that “Genetic susceptibility equals health destiny”. Or in other words, your genes determine who you are and there’s nothing you can do about it.
It’s true that diseases can be caused solely by genetic or environmental factors, but most common chronic diseases (asthma, hear disease, cancer, diabetes) are caused by interactions between a person’s genes and their surrounding environment.

9. Genetic Susceptibility is NOT Health Destiny
Genetics is just one piece of the “puzzle”
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ACTIVITY: Puzzle Pieces
Let’s think of this like a puzzle. What factors can cause disease?
Possible Answers:
*Genes or genetics *Diet
*Toxins *Immunizations
*Safety (violence, etc) *Air pollutants
*Smoking *Level of physical activity
Have the group put together the above puzzle pieces with “genetics” in the middle of the completed puzzle.
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As you can see genetics is just one piece of the puzzle. There are lots of things that can cause disease, including genetics. It’s important to remember this in our activities. We can’t ignore the genetic component of disease in our planning, just like we can’t brush aside the environmental factors either.

10. ACTIVITY: “Are you susceptible?”
See Unit Plan for details of how to play this game.

11. Misperceptions “There are no interventions based on genomics”
It’s true, we can’t change our genes. BUT we can use this knowledge to …
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How many of you have felt this way or have heard someone else say “There are no interventions based on genomics”?
While it’s true that we can’t change our genes, we can do things to our modify behavior and surrounding environment to prevent disease. For example …

12. Potential Interventions
Modify screening and medical recommendations
More Frequent Screenings
Genetic Testing/Evaluation
Interventions or Prevention
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Genomics can help us make appropriate screening and/or medical recommendations. We can use genetic knowledge to recommend more frequent screenings for patients at risk for breast or colon cancer. We can also provide referrals for genetic testing or evaluation with a genetic counselor for families at risk from these cancers. This might help identify other family members or target populations at risk for disease who would benefit from public health interventions and prevention programs. Perhaps genetic knowledge will indicate additional screening guidelines are needed for certain individuals or families. This could also indicate messages or additional interventions are needed to effectively target at-risk populations.

13. Potential Interventions
Modify exposure to environmental factors that may interact with known genetic susceptibilities
Pesticide Exposure
Genetic Screening for agricultural workers at high-risk
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Genomics can also help us plan interventions that will modify exposure to environmental factors that may interact with a known genetic component. For example, in the case of pesticide exposure, some agricultural workers may be at a higher risk of pesticide toxicity based on their genetic makeup.
Specific enzymes and the metabolic pathways that toxify environmental chemicals such as pesticides may have different levels of activity due to the small variations in the genes that code for them. For instance there are two genetic variants of paraoxonase, an enzyme involved in the metabolism in certain pesticides.
Although most of the general population have high activity variance of this enzyme, there are some who can’t metabolize this agent as quickly. These individuals may experience symptoms of pesticide toxicity if exposed to pesticide levels considered safe for most people. Agricultural workers exposed to high levels of pesticides may be at a higher risk for pesticide toxicity if genetically predisposed to such problems.

14. Potential Interventions
Target messages and interventions aimed at changing behaviors of high-risk groups
Diet
Physical Activity
Smoking Cessation
Alcohol Avoidance
Others?
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Genomics may also help us target public health interventions or messages aimed at changing behavior more effective. Knowledge about increased genetic susceptibility for certain diseases in the population might allow us to stratify individuals into risk categories. Individuals at high-risk for let’s say diabetes, would then benefit greatly from targeted interventions aimed at increasing physical activity levels and eating a healthy diet.
Genomic-based interventions may also be more effective because of the personal nature of the message. For example, people with a family history of lung cancer might be more inclined to avoid smoking based on this knowledge.
Nutrigenomics is beginning to come forward. This will help dieticians make individualized diets for those suffering from obesity or other disease. How will this change public health messages? Perhaps certain ethnic groups will benefit from individualized diets, the possibilities are endless and will need lots of revision, discussion, and evaluation!
What other similar examples can you think of? How might genomics change current interventions or messages? Will this increase a person’s desire to change behavior based on a family history of disease? Will this knowledge then motivate people to modify their behaviors or their surrounding environment?

15. Genomics and You What are some examples of public health genomics?
Did any of these activities apply to you?
So now that we are all on the same page as far as what “genomics” means, let’s discuss how we can use genomics in our individual programs.
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What are some examples of public health genomics? Think of how the three core functions of public health – assessment, policy development, and assurance relate to genomics.
Examples might include:
*conducting SURVEILLANCE of diseases with a known or suspected genetic etiology
--- Birth Defects
--- Utah Comprehensive Cancer Control Program
--- Diabetes program has already collected information on family history on the BRFSS. Data show that people believe family history is a risk factor for diabetes. But only 38% of the respondents knew that genetics was a risk factor for developing diabetes. How can the Diabetes program use this information to target program activities? What further data is needed?
--- Childhood diabetes registry and obtaining family history data from participants
*performing EPIDEMIOLOGICAL STUDIES to examine the role of GENE-GENE and GENE-ENVIRONMENT INTERACTIONS in common complex diseases
*Determining the distribution and impact of genetic variation on the burden of disease and disability in different communities
*EVALUATING GENETIC TESTS and LABORATORIES (clinical validity and utility)
*making RECOMMENDATIONS for genetic testing, screening, and services (What will be the impact of genetic tests such as the BRCA 1 and 2 test?)
*ASSURING the AVAILABILITY of and ACCESS to genetic services (genetic counselors, tests)
*making POLICIES on all of the above as well as ELSI
*COMMUNICATION and DELIVERY of GENETIC INFORMATION to the workforce, healthcare providers, policymakers, and the public
*PHARMACOGENOMICS (especially in the treatment of asthma, cancer chemotherapy treatments, medications for high blood pressure, injury responses, etc)
Did any of these activities apply to you? Your program? Your staff?

16. Family History
Powerful tool that can identify genetic, behavioral, social, environmental, and cultural factors
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We have briefly mentioned family history in the previous slides. Family history is a powerful tool that can help to identify not only the genetic factors of disease but also the behavioral, social, environmental, and cultural factors that can affect disease.
And yes, family history is a genomic tool. How many of you already incorporate some aspect of family history into your program activities? See you are already using genomics and you didn’t even know it!
If time permits, describe the Family High Risk Program and how it was used successfully right here at the Utah Department of Health for nearly 20 years!

17. Should We Wait? Direct-to-consumer marketing of BRCA genetic test
Genetic profiles for nutrition, drug response, osteoporosis, and heart disease
Genetic tests available for over 900 conditions
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With so many possibilities and so many questions, should public health even worry about the predicted wave of genomic information to come? Why should we begin discussing the issues surrounding the integration of genomics into public health activities?
Some urgency has already been felt in the public health field to gear up for the genomics era. In 2003 Myriad Genetics launched the first direct-to-consumer marketing campaign of a genetic test, the BRAC1 and BRAC2 test. These media campaigns targeted women and ran in Denver and Atlanta. The CDC has recently conducted an evaluation of the effect of the campaign in two similar cities and results will be published shortly, pending approval. What implications might this sort of thing have for our own Cancer Program? What about future consumer marketing campaigns? How should public health respond to such things, if they even should?
Another situation to consider is the marketing of personalized genetic profiles for such things as your risk for osteoporosis, heart disease, immunity, response to certain medications and toxicity levels. You can even find companies on the web willing to tell you what you should eat and how much alcohol you can drink for optimal health! Just send them a simple DNA sample from a cheek swab and presto, your whole genetic makeup is right at your fingertips! And with only a cost of … oh wait these companies have forgotten to post any information on cost, privacy, or what they plan on doing with your DNA after running the tests and who has access to your information!!!
And with over 900 genetic test available for, the time is near when you will have to begin combating these messages in your own programs!

18. Overcoming Challenges
Potential discrimination in health insurance or employment
Access to genetic services for all populations
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Ethical, legal, and social issues, or ELSI, are a major challenge facing genomics and public health. These issues will affect all areas of public health and may be addressed by each of the subcommittees at some point in their activities. Specific areas that will need further discussion include:
Potential discrimination in healthcare coverage or employment based on genetic testing or family history. There are laws to protect individuals from discrimination in employment based on genetic tests but family history is not included in the laws.
Access to genetic services (interventions, genetic testing, genetic counseling, etc) for all populations, including those who are under or uninsured.
Ethical, Legal, and Social Issues (ELSI)

19. Overcoming Challenges
Genomics won’t change the goals of public health. But it can be used as a tool to help target at-risk populations, through tailored messages and interventions.
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Remember that genomics may not change the goals of public health, disease prevention and health promotion. But genomics can be used as a tool to help identify and target at-risk populations, through tailored messages and interventions.
We aren’t trying to change your current program activities, only enhance them!!!

20. Genomics and You
“Genomics will be to the 21st century what infectious disease was to the 20th century … Genomics should be considered in every facet of public health: infectious disease, chronic disease, occupational health, environmental health, in addition to maternal and child health”
- “Gerard et al. Journal Law, Medicine, Ethics 2002; vol 30 (suppl): ”
In closing I would like to quote Dr. Julie L. Gerberding, Director of the CDC:
“Genomics will be to the 21st century what infectious disease was to the 20th century … Genomics should be considered in every facet of public health: infectious disease, chronic disease, occupational health, environmental health, in addition to maternal and child health”

21. ACTIVITY: KNL Chart
Let’s revisit our KNL Chart. What did we “LEARN” from the presentation and examples given? And how can we use this in public health? Is it relevant to us, our programs?

22. Thank You! Questions or comments? Contact Us
Chronic Disease Genomics Program
Rebecca Giles
Jenny Johnson
Jess Agraz
If you have any questions, concerns, or comments please contact us! We would love to meet with you and discuss any possible projects or help you in anyway we can.
Thanks and good luck!