Genetic Information for Testing Type 1 Diabetes GIFT-D

1. Genetic Information for Testing Type 1 DiabetesGIFT-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?

6. Genome Screens for T1D

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 one’s 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 Individual’s 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 • Sibling’s HLA-DQ genotype • Similarity of genotype with T1D proband’s 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

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! A pioneer is someone who leads the way into the future. You Chose: 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, let’s follow the trail of spit! Choose One: I will be tested to see what my chance is for getting all kinds of diseases.

25. Cells are to your body like bricks are to a house. Choose One: 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 cell’s job is to tell the body what to do.

26. You will save my spit and study it again in the future. Choose One: We will get spit from lots of kids! That’s a lot of spit! After we study it, we won’t save your spit. It has already told us the special information we need.

27. Choose One: Half of your genes come from your mom, and half from your dad.

28. Even if you have a big chance, that doesn’t mean that you will get it. Other things could change your chances too, like germs, or diet, or even things that we don’t 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 doesn’t 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. You Chose: I should run and tell my best friend! 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. 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. 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 Behaviors Receives genetic testing Receives counseling Prevention behavior changes (health and/or lifestyle related) (e.g. diet, seeks prevention tx) @ 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...) Measures

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