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Family Health History
Genetics, Environment and Behavior
We live in a very fast paced world full of new technologies and medical breakthroughs. We are used to
thinking that the newest and best medical care will come from the most advanced machinery and
pharmaceuticals. But there is a powerful interaction between genetics, behavior and environment that
are increasingly the target of medical research. What does this means? A lot of medical conditions are
determined by the genotype (genes a person has) and the environment leading to the phenotype (the
expression of a genetic condition, such as a disease).
As a result of this, a simple tool like a family health history, can allow you to access the most
sophisticated ideas in medicine and receive personalized medical care- tailoring your medical care to
your individual needs to maximize your health. The Surgeon General’s office has a national public health
campaign to ensure that all American’s have this kind of information so that they can get the best health
care possible. Most Americans know that their family health history is important (96%) but only 33%
have put one together. 1
Many of the common diseases such as diabetes are a result of these interactions. However this is a
complicated set of interactions that are not fully understood, in fact the research for some of these
diseases has just begun ( cancer) while for others there is a great deal of knowledge and evidence (heart
disease). Family history allows us to get information on our genetics but also on family behavior, two
key components in determining our risk of disease. There are two benefits: 1 )data for researchers who
are trying to learn more about the connection between genetics and disease and 2) information that can
lead to preventive measures for the individual.
Risk Factors and Disease
Ideally, you can manage your risk by changing behavior, exposure, taking medication or maybe even
getting tested for early diagnosis. This information can help your doctor so that he/she can focus on the
type of health care that you personally need. Important consideration: risk is not the same thing as a
diagnosis for a disease. There are many factors that contribute to development of these diseases and
you shouldn’t panic if it turns out that some of your family members suffer from similar problems. Some
of these familial risks can be gauged by looking at how close are the relatives that have the disease. The
closer the relative, the more likely we are to share their genetics and therefore their risk factors. But
the ability to quantify that risk is different for different types of diseases and the influence of genetics
vs. environment differs as well.
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“About the Surgeon General’s Family Health History Initiative” Washington D.C. HHS.
3/29/16. Viewed 8/2/16, http://www.hhs.gov/programs/prevention-and-wellness/familyhealth-history/about-family-health-history/index.html
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Diseases for which a family health history are useful2
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High blood pressure
DiabetesHeart disease
Some kinds of cancer
Alzheimer’s disease or dementia
Arthritis
Asthma
Birth defects
Cancers (breast, colon, lung, prostate,
ovarian, and others)
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Diabetes
Depression
Heart disease or sudden heart attack
High blood pressure and high
cholesterol
Pregnancy losses (stillbirths and
miscarriages)
Stroke or blood clots from
Risk Continuum
In order to get a better idea of the interaction between the genetic risk for a disease and the behaviors
that can influence that risk, we will create a continuum in the class of students who will be assigned a
particular genetic risk randomly. You will be placed into one of these three categories:
I.
II.
III.
High risk for heart diseaseMedium risk for heart disease
Low risk for heart disease
These represent your probability of getting the disease, not that you will absolutely get it or not.
Instructions:3
1. Line up against the blackboard with the low risk people standing to the left, the medium risk
people in the middle and the high risk on the far right.
2. Each student will pick a Lifestyle Card randomly from the deck.
3. Starting with the High Risk students, the first student to read their card will move in the line
a. Healthy Lifestyle= move to the left ____________ spaces.
b. Neutral Lifestyle stay where you are
c. Negative Lifestyle move ________ spaces to the right.
(number of spaces to be determined by the teacher)
4. After everyone has read their card, moved the appropriate number of spaces, the teacher
will divide the line back into thirds that represent High Risk, Medium Risk and Low Risk.
Note that you may have changed groups as a result of your lifestyle.
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(Utah Department of Health)
(Molly Malone, 2015)
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5.
6.
7.
8.
9.
In each group, count off from 1-4.
In the High Risk Group, those with #1 will sit down
In the Medium Risk Group, those with #1 & 2 will sit down
In the Low Risk Group those with #1,2, or 3 will sit down.
The teacher will then give you the results of your genetics and behavior and which people
will ‘’develop’’ the disease.
10. For each group, calculate the percentage of your members who developed heart disease.
The number who developed the disease X 100= ____________ percent
The total number in your group
Questions
 Does a person’s genetic risk for heart disease determine if they develop the disease?
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What percent of people in each group that got the disease? (you will need to get that
information from the other groups)
High Risk
___________%
Medium Risk
____________%
Low Risk
____________ %
Did making a positive or neutral change in your lifestyle, alter the risk for anyone in your
group? What was the percent of people whose risk decreased in each group:
High Risk
Medium Risk
Low Risk
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___________%
____________%
____________ %
Was there anyone in the class who made a positive or neutral change in their lifestyle,
but still developed heart disease? Why do you think this might be the case?
Multi-gene (Polygenic) Traits
It is hard to know whether a medical condition is the result of genetics, environment, behavior, or some
complicated combination of 2 or 3 of those factors. In fact for most diseases, medical researchers don’t
know at all. On the other hand, for some of the most common ailments, such as heart disease and
diabetes, medical research has given us quite a bit of good information and the ability to apply that to
medical and lifestyle treatments.
In this next exercise, we are going to focus just on the genetic component of heart disease. Scientists
don’t know how many genes are involved with heart disease, but for the purpose of this exercise we are
going to say that there are 4 genes ( and there are more than 6 involved in heart disease). This is called a
multigene trait or polygenic trait, when there is more than one gene involved. For most diseases, we
don’t know how many genes are involved, and furthermore it is hard to determine how many copies of
the risky genes each parent possesses. On top of that, as you have already seen, environment, lifestyle,
etc can influence the expression of those genes. That is why doctors generally classify people in risk
categories rather than specifically identifying whether someone will get a disease or not. We are going
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to simplify this scenario so that we can learn some important lessons about genetics and disease, but
please remember that real life is much more complex!
Pedigrees are system of keeping track of family relationships. This allows scientists to track the
inheritance of traits and try to figure out the genetics that are controlling those traits. In this case, we
are going to work with a human pedigree, otherwise known as a Family Tree.
Here is the common system and symbols used in constructing a family tree4
Instructions5
1. Working in pairs, you will need to use one of the blank pedigrees in your handout, as well as
colored pencils, pipe cleaners and 4 cups.
2. Each cup will represent one of the grandparents. Chose which one is the grandmother and
which is the grandfather.
3. The different color pipe cleaners represent different genes.
Red= gene for normal condition (doesn’t contribute to heart disease
Blue = gene that contributes to heart disease
Yellow= different gene that contributes to heart disease
Green= 3rd gene that contributes to heart disease
Orange = 4th gene that contributes to heart disease
4. Fill the cups with ‘’genes’’ and record the correct color in your pedigree.
Grandmother: 5 red + 1 blue
Grandfather: 3 red + 1 yellow +1 green + 1 orange
5. First Daughter: Close your eyes and RANDOMLY pick 3 genes from each grandparent and draw
in those colors for the first daughter.
6. Return the genes to the appropriate grandparent and repeat for each of the other children.
7. Using your third cup, Place the genes that were inherited by the last son in the third cup.
8. Using your 4th cup, create a low risk partner for that son.
Partner: 5 red + 1 blue
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(Andee Bouwhuis, Pick the Risk, 2006)
(Andee Bouwhuis, Pick the Risk, 2006)
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9. For each of the 3 grandchildren, randomly draw the genes they inherit from each of their
parents ( the son and the new partner). Remember to
 Pull 3 genes from each parent- RANDOMLY
 Draw the color of the genes into the symbol for each grandchild
 Return the genes to the correct parent after each offspring.
10. For each person in the pedigree, label their risk for heart disease using the following criteria
High Risk = 3 or fewer Red genes
Medium Risk= 4 Red genes
Low Risk = 5 or more Red genes
Questions
 One of the grandparents was high risk and the other low risk. What happened to the risk of
heart disease with each generation? (How many where at high risk in the children vs. the
grandchildren?
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Why do you think that happened?
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Even though you labeled people as high, medium and low risk, in real life it would be hard to
make that prediction. Why is that the case? (Hint there are several reasons. Think about the
previous exercise).
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If a parent has heart disease, does that mean the children will as well? Justify your answer.
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Imagine that the grandfather’s brother was medium risk and you were to meet one of HIS
grandchildren. How relevant would the genetic information for the original family be for this
new set of grandchildren? Explain your answer.
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Creating Your Family Health History: Assignment
You are each going to create your own family health history using the tools available at the Surgeon
General’s website. The Department of Health and Human Services has a web tool for putting together
your family health history and keeping track of your data. You will need to ask family members for
information about their health and anything they can remember about other family members who
might live too far away or no longer be living.
The website has a tool that will allow you to keep track of information and then generate a family tree
(pedigree). Before you begin asking questions of your relatives, here are some things that you need to
do to prepare:
Preparation6
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
Here’s a list of the people who are most important to talk to: parents, siblings and your
children. It is good if you can talk to your grandparents, uncles, aunts, nieces, nephews or half
siblings, but that might not be possible. For example, my grandparents are no longer living, and
in fact died when I was fairly young. On the other hand, I learned a lot about them through my
parents. If you have a relative who knows or remembers information about other relatives, that
can be a good source of information as well.
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What if you can’t get information from relatives? Some people will not be able to speak to any
relatives for different reasons such as distance, language barriers, adoption, estrangement, etc.
If you find yourself in those circumstances, come see me and I have some alternate suggestions.
For example, you could do a family health history for your spouse or a close friend. If neither of
those options will work, then I am going to suggest that you investigate the chronic diseases
that are most common in the ethnic group with which you are most closely associated.
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Preparing to ask questions: You are trying to find out information about health conditions that
can lead to illness and death. This might be a sensitive subject for both your relatives and/or
yourself and bring up strong emotions. It is important to remember to be considerate, kind and
respectful (this applies to your relatives and to yourself!).
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Make sure to explain what you are doing and why. For many of us, questions about our health
are very personal and not the subject of everyday conversation, but there is a big benefit to this
conversation. This health history won’t just be useful for you, but for other members of your
family as well.
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These questions take time: so make sure to schedule a talk when you and your relative will feel
comfortable. They might want privacy to talk about personal issues, or they might prefer to have
another relative around to help them remember. Ask them what they would prefer.
(Office, 2016)
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Types of questions to ask7 (Take Good Notes!)
 Do you have any chronic illnesses, such as heart disease, high blood pressure or diabetes?
 Have you had any other serious illnesses, such as cancer or stroke?
 How old were you when you developed these illnesses?
 Do you think there were any lifestyle factors that contributed to the illness?
 Have you or your partner had any difficulties with pregnancies, such as miscarriages?
 What medications are you currently taking?
 Also ask questions about other relatives, both living and deceased, such as:
 What is our family’s ancestry - what country did we come from?
 Has anyone in the family had learning or developmental disabilities?
 What illnesses did our late grandparents have? How old were they when they died?
 What caused their deaths?
Of course you are free to ask other questions and/or skip some of these if they seem like they
might cause problems or misunderstandings.
Data Entry
Take this information and go to the ‘’My Family Health Portrait Tool’’ at the Surgeon General’s
website and enter the data. It will generate a pedigree. Unfortunately, the pedigree won’t have
the information about people’s health, but rather that information is in a table.
Some people (like myself), are strongly visual and need to print out the pedigree and write in by
hand the diseases so that I can get a global picture of my family health history. (Actually, I
loaded it into PowerPoint and added the information on the computer. You could do the same
with a program like Paint).
My Family Health History Write up: Assignment
Once you have the information from your family members, you are going to need to look your
family pedigree ( from the Health Portrait Tool) as well as your notes to determine what this
means. You will need to turn in your pedigree plus a paragraph answering each of the following
topics and your signed copy of your Action Committment
1.
2.
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Diseases, Genetics and Risk: Explain how genetics, behavior and environment interact to
determine your risk for developing a disease. (Make sure to address the following: what
factors contribute to risk, what does it mean to be at risk, how does probability factor into
your risk or whether you get the disease or not, why does this apply more to some diseases
than others?)
Your Family Health History: Look over your notes and your family pedigree and summarize
the health patterns in your family. This should include general information (ex:we live a long
time) as well as specifics (ex: 3 of my four grandparents had arthritis). Are there any
illnesses that show up in family members? Are there any lifestyle patterns that you see in
family members that are beneficial or any that are detrimental?
(Office, 2016)
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3.
4.
Specific Medical Condition: Pick one of the medical conditions that shows up in your family
pedigree and do some basic informational research.
 If there isn’t a particular condition that is common in your family pick one of the
following that seems most interesting to you: heart disease, asthma, high blood
pressure, diabetes, osteoporosis, cancer.
 Go to the following website and learn more about the disease, the risk factors (genetic,
environmental, behavioral) Genetic Science Learning Center and write a paragraph
summarizing these issues.
Action: Are there any actions that you would like to take as a result of what you have
learned? Options include: sharing this information with a family member, doctor or medical
professional; changing a behavior or lifestyle; seeking medical treatment or screening. Here
are some resources that I found very useful
 U.S. Preventive Services Task Force: you can look up different medical conditions. They
have evaluated the state of the research and medical recommendations based on the
quality of the current knowledge. For example, for some kinds of breast cancer genetic
screening is highly recommended, but for others there isn’t any evidence that it helps.
 National Institute of Diabetes and Digestive and Kidney Diseases; contains a number of
resources for helping people who are at risk for diabetes.
 Centers for Disease Control and Prevention: has a website that has resources for specific
diseases.
I , __________________ ( your name) , agree to take the following action
_________________________________________________________
_________________________________________________________
I will report the results of that action through the Canvas website by December 1st, 2016
_________________________________
(signature)
Date __________________
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Bibliography
Andee Bouwhuis, B. H. (2006). Pick the Risk. Retrieved from Teach.Genetics:
http://teach.genetics.utah.edu/content/familyhistory/PicktheRisk.pdf
Andee Bouwhuis, B. H. (2006). Pick the Risk . Retrieved from Teach.Genetics:
http://teach.genetics.utah.edu/content/familyhistory/PicktheRisk.pdf
April Mitchell, G. S. (2006). Using Family History to Improve your Health: Web Quest. Retrieved from
Teach.Genetics:
http://teach.genetics.utah.edu/content/familyhistory/HealthFamilyWebQuest.pdf
Molly Malone, K. P. (2015). Risk Continuum. Retrieved from Teach.Genetics:
http://teach.genetics.utah.edu/content/familyhistory/RiskActivity.pdf
Office, S. G. (2016, March 29). Before You Start. Retrieved from Surgeon General's Family Health History
Initiative: http://www.hhs.gov/sites/default/files/familyhistory/start/startenglish.pdf
Utah Department of Health, C. D. (n.d.). Family Health History Toolkit. Retrieved from
http://health.utah.gov/genomics/familyhistory/documents/Toolkit/new%20entire%20toolkit.pd
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