Please Read the Introduction Prior to Answering Thequestions

Supplementary Material- Survey

Please read the introduction prior to answering thequestions.

Introduction

Gaucher disease is a rare genetic disorder that results in the abnormal build-up ofmaterialinside the cells of the body. There are three forms—Types I, II, and III. Type I is themost common and least severe form of Gaucher disease. The symptoms of Type IGaucherdisease vary greatly—some people are entirely asymptomatic, while others mayhaveproblems with their liver, spleen, bones and/or blood count that need to be treated.TypesII and III are both more severe and affect thebrain.

Carriers of Gaucher disease are not affected by the disease, but they are at risk of havinga childwiththediseaseiftheirpartnerisalsoacarrier. AnyonecanbeacarrierofGaucherdisease, but people of Eastern European Jewish descent are more likely to becarriers.

Parkinson’s disease is a neurodegenerative disease. It causes tremor, slowness andotherneurologic symptoms. There is no cure for Parkinson’s disease, and it cannot beprevented.

The risk for developing Parkinson’s disease is about 2% in the elderly population.Recent studies have shown that carriers for Gaucher disease have about a 10% risk ofdeveloping Parkinson’sdisease.

Please answer the followingquestions.

Demographics:

1.Gender

FemaleMale

2.Age

years

3.How many years of education have youcompleted?

4.What type of genetic screening did you haveperformed?

Eastern European (Ashkenazi) Jewish carrier screeningpanel Panethnic carrier screening panel (ex.Counsyl)

Other

I don’tknow

5.Ethnicity

Hispanic orLatino Not Hispanic orLatino

6.Race

American Indian or AlaskaNativeAsian

Black orAfrican-American

Native Hawaiian or PacificIslanderWhite

Other

7.Are you of Eastern European Jewish descent (meaning at least one of yourgrandparentsis of Eastern European Jewishdescent)?

YesNoI don’tknow

8.Is your partner of Eastern European Jewish descent (meaning at least one of his orhergrandparents is of Eastern European Jewishdescent)?

YesNoI don’tknow

9.Were you or your spouse pregnant when you had carrier screeningperformed? YesNo I don’t know

10.Were you found to be a carrier for anydisorders?YesNoI don’t know

11.As far as you are aware, does anyone in your family have Gaucherdisease? YesNo

12.If you answered “yes” to #11, how is the person with Gaucher disease related toyou? You may pick more than oneanswer.

Parent ChildSpouseSibling

GrandparentAunt orUncle FirstcousinOtherrelativeI don’tknow

13.Do you know anyone personally who has or had Gaucher disease other than arelativeorspouse?

YesNoI don’tknow

14.As far as you are aware, does anyone in your family have Parkinson’sdisease? YesNo

15.If you answered “yes” to #14, how is the person in your family with Parkinson’sdisease related to you? You may pick more than oneanswer.

Parent ChildSpouseSibling

GrandparentAunt orUncle FirstcousinOtherrelativeI don’tknow

16.Do you know anyone personally who has or had Parkinson’s disease other thana relative orspouse?

YesNoI don’tknow

17.Prior to having carrier screening, did any health care professional inform youthat carriers of Gaucher disease have a higher risk of developing Parkinson’sdisease?

YesNoI don’tknow/don’tremember

18.If you answered “No” or “I don’t know/don’t remember” for #17, answer thefollowing question.

If a health care professional had informed you prior to having carrier screeningthatcarriers of Gaucher disease have a higher risk of developing Parkinson’s disease,what would you havedone?

(a)I would still have had carrier screening for all the disorders I was screenedfor.

(b)I would have had carrier screening for all the disorders I was screened forexcept Gaucherdisease.

(c)I would not have had any carrierscreening.

(d)I am not sure what I would havedone.

Indicate to what extent you agree or disagree with the followingstatements.

19.Gaucher disease is a severe, life-alteringdisease.

StronglyAgreeAgreeUncertainDisagreeStronglyDisagree

20.Parkinson’s disease is a severe, life-alteringdisease.

StronglyAgreeAgreeUncertainDisagreeStronglyDisagree

21.Everyone should be informed prior to getting carrier screening for Gaucherdiseasethat carriers of Gaucher disease are at an increased risk for Parkinson’sdisease.

StronglyAgreeAgreeUncertainDisagreeStronglyDisagree

22.Only those people who are found to be carriers for Gaucher disease shouldbeinformed that carriers of Gaucher disease are at an increased risk for Parkinson’sdisease.

StronglyAgreeAgreeUncertainDisagreeStronglyDisagree

23.It is not necessary that healthcare providers inform people undergoingcarrierscreeningforGaucherdiseasethatcarriersofGaucherdiseaseareatanincreasedriskforParkinson’sdisease.

StronglyAgreeAgreeUncertainDisagreeStronglyDisagree

For the following questions, please circle the number from 1 to 5 on the scalethat best describes how you feel at the moment. For example, in question 24(a) ifyou thought having the test was very beneficial, you would circle 1. If you thought itwasslightly beneficial, you would circle 2, and if you thought it was slightly harmfulyou would circle 4. Please read the scale for eachquestion.

24.For me, undergoing screening to determine if I was a carrier for Gaucher diseasewas:

(a)beneficial 1 2 3 4 5harmful

(b)important 1 2 3 4 5unimportant

(c)anxiety relieving 1 2 3 4 5 anxietycausing

For the following questions (#25-#28), imagine you were found to be a carrierfor Gaucherdisease.

25.Imagine that your results from carrier screening showed that you were a carrierforGaucher disease. Learning you were a carrier for a mutation causing Gaucherdiseasewould havebeen:

(a)beneficial 1 2 3 4 5harmful

(b)important 1 2 3 4 5unimportant

(c)anxiety relieving 1 2 3 4 5 anxietycausing

26.Imagine that prior to deciding to have carrier screening, a health careproviderinformed you that carriers of Gaucher disease have a 10% risk of gettingParkinson’sdisease during their lifetime. Getting that information in that way would havebeen:

(a)beneficial 1 2 3 4 5harmful

(b)important 1 2 3 4 5unimportant

(c)anxiety relieving 1 2 3 4 5 anxietycausing

27.Now imagine that after learning that you were a carrier for Gaucher disease, ahealthcare provider informed you that carriers of Gaucher disease have a 10% risk ofgettingParkinson’s disease during their lifetime. Getting that information in that way wouldhavebeen:

(a)beneficial 1 2 3 4 5harmful

(b)important 1 2 3 4 5unimportant

(c)anxiety relieving 1 2 3 4 5 anxietycausing

28.Now imagine that after learning that you are a carrier for Gaucher disease, you readanarticle online that says carriers of Gaucher disease have a 10% risk of gettingParkinson’sdisease during their lifetime. Getting that information in that way would havebeen:

(a)beneficial 1 2 3 4 5harmful

(b)important 1 2 3 4 5unimportant

(c)anxiety relieving 1 2 3 4 5 anxietycausing

To the best of your knowledge, are the following statements true orfalse?

29.Carriers of Gaucher disease do not have the disease but are at risk for having achildwith thedisease.

TrueFalseNot sure

30.Carriers of Gaucher disease will definitely develop Parkinson’sdisease. TrueFalse Not sure