Genetic Information for Testing Type 1 Diabetes GIFT-D

1
Genetic Information for Testing Type 1 Diabetes
GIFT-D

• Developing and evaluating a theory-based web
  education and risk communication program for
  families with T1D

2
New 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

3
Since 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?

4
(No Transcript)
5
(No Transcript)
6
Genome 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
7
Intervention 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

8
Natural 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

10
Education / 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

11
Education / 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

12
Genetic Testing for T1D
HLA-DQ screening by high throughput techniques
13
Develop 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

14
Photo of Risk Calculator
15
T1D 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
16
T1D 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
17
(No Transcript)
18

• Theory-based Genetic Education and Risk
  Communication Program
• Development Evaluation

19
Genetic 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.
33
Evaluation of Education Modules

• Outcome evaluation
• Knowledge
• Psychosocial parameters
• Behaviors
• Process evaluation
• Time/effort
• Satisfaction
• Expectations

34
Measures

• 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

35
(No Transcript)
36
(No Transcript)
37
(No Transcript)
38
(No Transcript)
39
(No Transcript)
40
(No Transcript)
41
Develop Web-Based Format for Education
Communication Programs

• Broaden reach
• Flexibility
• Easy to use
• Capture data online
• Coordinated all components of the project

42
Genetic Education for Health Care Professionals

• Three Web-based modules
• 1. Basic genetic concepts
• 2. Genetics of diabetes
• 3. Counseling issues

43
Continuing education online
44
(No Transcript)