This research project is led by Paloma Boeck, a master’s student of human genomics and genetic counseling at Keck Graduate Institute, and is supervised by Emily Quinn, an associate program director and certified genetic counselor at Keck Graduate Institute. The goal of this study is to explore what information is considered most important to recently identified fragile X premutation carriers. This information can help educate health care providers regarding what information patients want to know more about.
About the Study
Who can participate?
To be in this study, you must be 18 years old or older, English-speaking, and you must have been identified as a fragile X premutation carrier anywhere between January 1, 2018, until the present.
What will happen in the study?
During this study, you will be asked to complete an online survey and you may be contacted for a follow up interview if you meet the eligibility criteria of the study. The online survey will focus on background information and how you found out that you were a fragile x premutation carrier. This survey will take about five minutes of your time.
After the survey you may be contacted for an interview. You will be contacted based on your choice, either a phone call or email, to schedule the interview. This interview will focus on what information you remember about your results, what was most important for you at the time of your results, how you were given your results, and what information you wanted to know more about. This interview will be through a communication program called Zoom where you can talk through a video or a call. The interview will take about one hour of your time.
What are the good things that can happen from this research?
This study will add to the growing body of research for fragile X premutation carriers.This study may also help genetic counselors direct information based on what patients find is most important to them.
What are the bad things that can happen from this research?
The risks that you run by taking part in this study are minimal. The risks include feeling uneasy while talking about your personal results, unusual inconvenience and/or sharing possibly damaging personal information. The risks will be controlled by removing your personal identifying information and securing information from the interview on a secure password protected device.
Will I be paid to participate in this study?
No, you will not be directly compensated for participating in this study.
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Participants of this study will explore what information is considered most important to recently diagnosed fragile X premutation carriers. Open to premutation carriers 18 and over who were diagnosed sometime since January 2018.
Parents and Caregivers of Adults with Fragile X Syndrome Needed for a Survey
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