IGNITE Questionnairecode Number ______For Reminders

IGNITE QuestionnaireCode Number ______For reminders

The following questions ask your thoughts and opinions about returning genetic research results to research participants. There are no right or wrong answers. We are interested in what you think. In each question, follow the instructions and please choose whichever option fits you best.

You are being contacted because you or your child has taken part in the IGNITE research study (Orphan Diseases: identifying Genes and Novel Therapeutics to Enhance Treatment) or in its predecessor study AMGGI (Atlantic Medical Genomics and Genetic Initiative)research study. IGNITEand AMGGI have a central aim to understand the genetic causes of rare medical conditions. In searching for the genetic cause it is possible to discover information about genes in conditions other than the one under study. The following questions ask about if and how best to tell you or your child about results of genetic research.

All questionnaires will be confidential, so that neither you nor your family member nor your physician can be identified. The questionnaire should take about 20-30 minutes to complete.

We thank you in advance for your voluntary participation.

If you DO NOT want to take part in this questionnaire, it would be helpful for us to know a little bit about the people who decide not to take part. Please go to page14 and answer questions beginning at question number 28.

If you DO want to take part in this questionnaire, start here:

PLEASE RETURN THIS QUESTIONNAIRE IN THE PRESTAMPED, PREADDRESSED ENVELOPE THAT CAME WITH THIS PACKAGE.

These first few questions are about taking part in the IGNITEgenetic research study.

1. Who in your family has taken part in the IGNITE research study?

(Please circle all that apply)

1. Myself
2. My child(ren) Ages: ______
3. My partner (for example wife, girlfriend, boyfriend)
4. My brother or sister
5. My parents
6. Others ______

2. What led to your decision to take part in theIGNITE genetic research study?

(Please check one box only in each row)

3. This question asks about whether or not you were told you could get the results from the IGNITE study you took part in.(Please circle the answer or answers that best describe what happened)

a.I was told when I would get the results

b. I was NOT told when I would get the results

c. I was told who would provide me the results

d. I was NOT told who would provide me the results.

e. I was told how the results would be provided

f. I was NOT told how the results would be provided

g. I was told that I could get the results but cannot remember the details.

4. Have you received genetic results from theIGNITE study?

1. Yes go to 4a.
2. No go to 5.

4a. If you receivedthe genetic results from theIGNITE study, were you able to understand them?(Please circle one answer only)

a. Fully

b. Partially

c. Not at all

4b. If you received the genetic results from the IGNITE study, did you get any assistance from a health professional in helping to understand them?(Please circle one answer only)

a.Yes

b. No

c. I do not remember

4c. If you received genetic results from the IGNITE study, would you choose to receivethe results again?(Please circle one answer only)

a. Yes

b. No (If no, please explain whynot?)______

5. Did your child take part in IGNITE research?

(Please circle one answer only)

a. Yes, go to question 6

b. No, I declined to give consent for my child, go to question 7

c. No, my child was not asked to take part, go to question 8

d. Don’t Know, go to question 8

6. If you gave consent for your child to take part in IGNITE, what led to your decision? (Please check one box only in each row)

7.If you did not consent for your child to take part in IGNITE, what led to that decision? (Please circle all that apply)

8. How reliabledo you think that genetic results are when obtained in a research laboratory compared to a clinical laboratory? (Please circle one answer only)

a. A research lab is more reliable than a clinical lab

b. A researchlab is equally reliable as a clinical lab

c. A research lab is not as reliable as a clinical lab

d. I do not know.

9. a. Genetic research may lead to results that help us to understand you or your child’s genetic condition.

Do you feel that you have a right to get these types of results?

(Please circle one answer only)

a. Very strong rights

b. Strong rights

c. Few rights

d. No right

9. b. Genetic research may lead to results that are unrelated to you or your child’s genetic condition but tells us about other genes in their body that may not be working well.

Do you feel that you have a right to get results that are unrelated to the original reason that you or your child took part in the research? (Please circle one answer only)

a. Very strong rights

b. Strong rights

c. Few rights

d. No right

10 a. Consider a situation where the health impact of a genetic research result is potentially serious. For example, the genetic result means an increased risk of cancer or death.

Which of the following do you feel is the best approach for returning genetic research results to participants if the result is serious?

(Please circle only one answer)

a.Participants should be routinely notified ifall are expected to get the condition.

b. Participants should be routinely notified ifmore than three quarters will get the condition.

c Participants should be routinely notified ifmore than half will get the condition

d. Participants should be routinely notified ifmore than a quarter will get the condition

e. Participants should be routinely notified even if only very few (less than 1 in 20) will get the condition

f. Participants should not be routinely notified- this is only a research finding

11. What do you believe are the best ways to deal with results that have uncertain impacts upon participants?(Please circle one answer only)

a. The researcher should decide whether or not to give back the results.

b. The researcher and the participant should decide together.

c. All results should be returned to participants, even if the meaning is uncertain.

d. An independent committee made up of members of the public and scientists should decide if the results should be offered to research participants.

e. Other ______

11a. If a researcher or an independent committee makes the decision about giving genetic results back to participants, do you:

1. Want to know that a decision not to give results back has been made (circle Y or N)?

a. Yes b. No

2. Want to be able to challenge a decision not to give results back (circle Y or N) ?

a. Yes b. No

12 a. Should genetic counselling be offered prior to a sample being taken to do genetic research?(Please circle one answer only)

a. Always

b. Mostly

c. Sometimes

d. Never

e. I am uncertain what genetic counselling is

12 b. Should genetic counselling be offered prior to research results being returned to participants or their families?(Please circle one answer only)

a. Always

b. Mostly

c. Sometimes

d. Never

e. I am uncertain what genetic counselling is

13 a. Please consider a situation where genetic research results from a study YOU took part in were available to you through a confidential website. These results would give you all the potential diseases that you may be at risk for based on the genetic analysis of your sample.

Would you access such a site independently (without assistance from a health care professional)?(Please circle one answer only)

a. Very likely

b. Likely

c. Do not know

d. Unlikely

e. Very unlikely

13 b. Please consider a situation where genetic research results from a study YOUR CHILD took part in were available to you through a confidential website. These would give you all the potential diseases discovered that your child may be at risk for based on the genetic analysis of your sample.

Would you access such a site independently (without assistance from a health care professional)?(Please circle one answer only)

a. Very likely

b. Likely

c. Do not know

d. Unlikely

e. Very unlikely

14. In this question, children refer to young people who cannot provide their own consent for genetic research testing.

Please check one box only in each row indicating how you feel about the following statements

15. Please check one box only indicating how you feel about the following statements. These all refer to being offered UNEXPECTED results (findings that are not related to the main reason the study was done).

(Please check one box in each row)

16. Would you want to know the results of an UNEXPECTED findingfor which we are uncertain whether there is an effect on the health for you or your children? (Please circle one answer only)

a. Yes, I would want to know no matter how uncertain the effect on health.

b. Yes, I would want to know even if you were mildly uncertain of the effect on health.

c. No, I would not want to know if you were mildly uncertain of the effect on health.

d. No, I would not want to know if you were very uncertain of the effect on health.

16 a. Sometimes genetic research techniques may turn up more than a dozen different incidental findings that have potential relevance to a person’s future health. This may cause a great deal of psychological stress for an individual. Do you think that there should be a maximum number of incidental findings given to participants (with their consent)?(Please circle one answer only)

a. All relevant findings should be returned to participants, if they want to know

b. Only the finding relevant to the condition under study should be returned.

c. Only one or two serious findings should be returned

d. Up to ten serious findings should be returned

e. Other ______

17. Please indicate if you would want to get results back in each of the following situations. (Please check one box only in each row)

18. We would like to know what you feel is/are the best reasons to give genetic research results back to people who take part in research.

Please check one box per row toshow to what extend you agree or disagree with the following:

19. What do you feel is or are the most important issues parents should consider in deciding whether or not to get genetic research results?

Please check one box per row to show to what extent you agree or disagree with the following:

20. What do you feel should happen when genetic research results for you show an increased risk of serious health impacts for extended family or relatives? (Please circle all that apply)