Title: Genetic Information for Testing Type 1 Diabetes GIFT-D
1Genetic Information for Testing Type 1 Diabetes
GIFT-D
- Developing and evaluating a theory-based web
education and risk communication program for
families with T1D
2New Advanced Technology to Improve the Prediction
and Prevention of Type 1 Diabetes
- Massimo Trucco, P.I. - Immunology
- Denise Charron-Prochownik Behavioral Science/
Nursing - Janice S. Dorman Genetic Epidemiology
- Cathy Poole - Telemedicine
- Linda M. Siminerio Diabetes Education/ Nursing
- Christopher M. Ryan Psychology
- Yvette Conley Genetics in Nursing
- Patti Schmitt Project Director
- Acknowledgement Col. Dr. Ron Porapatich, M.D.
- US Army (TATRC)
- Funded by the Department of Defense
3Since the completion of the Human Genome Project
and with rapid screening techniques available,
problems arise when.
- Prediction of disease is less than perfect
- Disorder cannot be prevented/treated
- Documentation of genetic disorder may
affect insurability and employability - Knowing level of risk may cause psychological
distress - People do not understand genetics (including
health professionals) - Is genetic testing for T1D unethical?
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6Genome Screens for T1D
IDDM1 6p21 IDDM13 2q34-q35
IDDM2 11p15 IDDM15 6q21
IDDM3 15q26 IDDM17 10q25
IDDM4 11q13 IDDM18 5q31-q33
IDDM5 6q25-q27 1q42-qter
IDDM6 18q21 8q24
IDDM7 2q31 VDR, INF? 12q12-qter
IDDM8 6q27-qter 16p11-p13
IDDM9 3q21-q25 16q22-q24
IDDM10 10p11-q11 17q24-qter
IDDM11 14q24-q31 TGFß1 19p13-q13
IDDM12 2q33 Xp11
7Intervention Trials for T1D
- Study Intervention Target /Screen
- TRIGR Avoid CM FDR / genetic
- DIPP Insulin (N) GP / genetic
- Trial Net Immunosuppr FDR / antibodies
- and genetic
-
- CM cows milk, FDR first degree relatives,
- N nasal, GP general population
8Natural History Studies for T1D
- Conducted in the general population
- DAISY - Colorado
- PANDA - Florida
- DEW-IT - Washington
- Based on newborn genetic screening
- Concerns about proper informed consent
- Parents are notified of the results by mail
- Newborns at high risk (6) recruited for
follow-up
9 Objectives of GIFT-DDevelop, implement,
and evaluate appropriate education /
communication programs about genetic testing and
type 1 diabetes risk that can be widely
disseminated to children, parents and health
professionals
10Education / Communication Programs
- Programs developed for
- Children (unaffected siblings in T1D families)
- Parents (with an affected T1D child)
- Health care professionals (for T1D)
- Covers basic genetics, concept of genetic
susceptibility, the risk factors for T1D, and the
risk and benefits knowing ones genetic risk - Decision aid to improve informed consent
- Focus is risk assessment and communication
11Education / Communication ProgramsObjectives
- Increase knowledge
- Improve risk perceptions
- Clarify benefits and risks of genetic testing
- Reduce barriers
- Address ethical issues
- Facilitate decision making
- Prevent adverse reactions and minimize distress
12Genetic Testing for T1D
HLA-DQ screening by high throughput techniques
13Develop an Algorithm to Estimate an Individuals
Risk
- Permits a more personalized approach to risk
estimation than those utilized by ongoing
research projects - Modeled after algorithm for breast cancer
developed at the University of Pittsburgh -
14Photo of Risk Calculator
15T1D Risk Algorithm
- Based on regression analysis from genetic
epidemiologic research conducted by our research
group - Age
- Family history of T1D
- Siblings HLA-DQ genotype
- Similarity of genotype with
T1D probands genotype - Translation research
T1D 42 yrs
16T1D Risk Algorithm
A 12 year old child who shares both DQ haplotypes
with her T1D sister has a 7 chance of
developing T1D by age 30 years if neither parent
has T1D Risk increases to 38 if both parents
have T1D
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18- Theory-based Genetic Education and Risk
Communication Program - Development Evaluation
19Genetic Education Program
- Based on factors influencing behavior (genetic
testing) - Expanded Health Belief Model
- Susceptibility
- Severity
- Benefit
- Barrier
- Self-efficacy
- Intention
20- Hi! When you look in the mirror what do you see?
- Do you see a girl or a boy?
- Do you see eyes like your mom or dad?
- Do you have hair like a brother or sister?
- We see something different.
- We see a person who might be a pioneer.
- You may have learned about pioneers in school who
explore new lands. - You may have heard about space pioneers who go
into outer space. - We are going to tell you about becoming a health
pioneer. - Just answer the questions as we go along!
Choose One
A pioneer is someone who leads the way into the
future.
21- Hi! When you look in the mirror what do you see?
- Do you see a girl or a boy?
- Do you see eyes like your mom or dad?
- Do you have hair like a brother or sister?
- We see something different.
- We see a person who might be a pioneer.
- You may have learned about pioneers in school who
explore new lands. - You may have heard about space pioneers who go
into outer space. - We are going to tell you about becoming a health
pioneer. - Just answer the questions as we go along!
A pioneer is someone who leads the way into the
future.
You Chose
Absolutely right! Are you ready to be a pioneer?
22- Hi! When you look in the mirror what do you see?
- Do you see a girl or a boy?
- Do you see eyes like your mom or dad?
- Do you have hair like a brother or sister?
- We see something different.
- We see a person who might be a pioneer.
- You may have learned about pioneers in school who
explore new lands. - You may have heard about space pioneers who go
into outer space. - We are going to tell you about becoming a health
pioneer. - Just answer the questions as we go along!
You Chose
A pioneer is someone who leads the way into the
future.
NopeRemember, a pioneer is someone who does
something before other people begin doing it. A
pioneer is a leader.
23- You might be thinking,
- How will they look inside my body? Maybe they
will use a super x-ray machine! Maybe they have
see-through body glasses that they will wear! - In the future this might be one way, but we
already have a way to see inside of you. - We might ask you to swish a little mouthwash to
get a little spit. Do your parents use mouthwash
for fresh breath? Or, we will take a soft brush
and rub it on the inside of your cheek. It is
safe, easy, quick and should not hurt at all!
You should only have to do it once.
Rubbing a soft brush on the inside of my cheek is
one way of getting information about how I am
like my mom or dad.
You Chose
Exactly right! Are you surprised that it is so
simple?
24- Believe it or not, your spit is amazing! We can
tell all sorts of things from spit! Right now,
we want to discover one thing only. We want to
see what your genetic chance is of getting a
disease called type 1 diabetes. You know what a
disease is it is a problem with your health,
like some people have problems breathing.A
genetic chance do you know what that means? To
find out, lets follow the trail of spit!
Choose One
I will be tested to see what my chance is for
getting all kinds of diseases.
25- First, your spit goes to the lab where it will be
studied.Your spit is made up of very tiny cells.
Cells are the building blocks of your body. The
cells job is to tell the body what to do.
Cells are to your body like bricks are to a house.
Choose One
26- We will get spit from lots of kids! Thats a lot
of spit! After we study it, we wont save your
spit. It has already told us the special
information we need.
You will save my spit and study it again in the
future.
Choose One
27- Half of your genes come from your mom, and half
from your dad.
Choose One
28- Even if you have a big chance, that doesnt mean
that you will get it. Other things could change
your chances too, like germs, or diet, or even
things that we dont know about yet. We cannot
tell about everything from spit! We can only
tell your genetic chance. We are just learning
the different puzzle pieces.
If you say that I have a big chance of getting
type 1 diabetes, then I will get it.
You Chose
Exactly! A chance doesnt mean anything is
definite. Genes are only part of the puzzle.
29- It is interesting to learn about your genetic
chance for getting type 1 diabetes. Kids who get
type 1 diabetes can get sick. Their bodies
cannot use the food they eat for energy. They
need insulin to help their bodies get that
energy. Their pancreas has stopped making
insulin. The pancreas is an organ like your
stomach.
Choose One
In kids with type 1 diabetes, the pancreas has
stopped working the way it should.
30- Only you, your parents, and a nurse or doctor
will know your chance of getting type 1 diabetes.
Before you share what you have learned about your
chance with others, talk to your parents first.
You Chose
I should run and tell my best friend!
The answer is False. You should talk to a parent
first.
31- Are you ready to be a health pioneer? If so,
tell the nurse and get ready to give up some
spit! - Soon, everyone will be tested for lots of
different things. But for now, you would be one
of the first - Because of pioneers like you, we are going to
learn more about what causes type 1 diabetes. Our
goal is to learn as much as we can, so that no
one gets this disease in the future! - Thank-you! You have been great!
32- What are the risks of knowing the results
of your - genetic test?
- It may take some time to adjust to your test
results. - Once you know your test results, you may
- feel worried, angry, or sad
- become concerned about getting a disease that may
not develop - feel differently about yourself, your family, and
your future - be upset to know that your risk is higher than
the general population for a disease that cannot
be prevented. - In rare cases, insurance companies or employers
may treat people unfairly based on the results of
genetic testing.
I have read and understand the risks of getting
the results of my genetic test for type 1
diabetes.
33Evaluation of Education Modules
- Outcome evaluation
- Knowledge
- Psychosocial parameters
- Behaviors
- Process evaluation
- Time/effort
- Satisfaction
- Expectations
34Measures
- Behaviors
- Receives genetic testing
- Receives counseling
- Prevention behavior changes (health and/or
lifestyle related) - (e.g. diet, seeks prevention tx) _at_ 1 month and 3
years - Seeks other information on the web-based resource
- Disclosure
- Process evaluation
- Time / effort
- Satisfaction
- Expectations
- (Control Optimism, Religiosity, Life Events...)
- Knowledge
- Diabetes
- Genetics
- Inheritance of type 1 diabetes
- Environmental risk factors
- Psychosocial parameters
- Anxiety
- Depression
- Perceived risk
- Health beliefs / intention
- Health quality of life
- Stigma / discrimination (insurance / employment)
- Family Function
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41Develop Web-Based Format for Education
Communication Programs
- Broaden reach
- Flexibility
- Easy to use
- Capture data online
- Coordinated all components of the project
42Genetic Education for Health Care Professionals
- Three Web-based modules
- 1. Basic genetic concepts
- 2. Genetics of diabetes
- 3. Counseling issues
43Continuing education online
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