Frequently Asked Questions
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- Why are we doing this study?
- What are the benefits to taking part in the study?
- How many people will take part in this study?
- What will happen if I take part in this research study?
- How do I give a saliva sample?
- Can I stop being in the study?
- What side effects or risks can I expect from being in the study?
- Will my medical information be kept private?
- What are the costs of taking part in this study?
- Will I be paid for taking part in this study?
- What are my rights if I take part in this study?
- What are we not doing in this study?
Why are we doing this study?
The purpose of this study is to learn more about the genetic causes of limb malformation in humans. The genetic cause or causes for several of these conditions is/are at present not known or incompletely understood.
What are the benefits to taking part in this study?
There will be no direct benefit to you from participating in this study. You will not be paid for taking part in this study. However, this study will help doctors learn more about the genetic cause of limb malformations. In the future this information may help the treatment of patients with limbs malformations.
How many people will take part in this study?
About 300 people per year will take part in this study.
What will happen if I take part in this research study?
If you agree to participate in this study, you will need to sign a consent form and questionnaire and we will obtain DNA from you. This will be done either through a saliva or blood sample, based on your preference. If you choose to give a saliva sample, you will spit saliva into a cup provided by us. These cups can be easily sent back to us in the mail using our prepaid envelopes. If you choose to do a blood draw, about three ounces of blood will be drawn from adults (8-10 teaspoons) and two ounces (5-7 teaspoons) from adolescents depending on weight. This blood will be drawn at UCSF or by your physician and should take about five minutes. DNA samples will be housed at UCSF in the lab of Dr. Nadav Ahituv and will only be used for research on limb malformations.
How do I give a saliva sample?
If you agree to provide a saliva sample you will be asked to fill a saliva sample cup. Instructions:
- video instructions
- how to give a saliva sample for age 5 and younger.pdf
Can I stop being in the study?
Yes. You can decide to stop at any time. Just contact us.
What side effects or risks can I expect from being in the study?
Drawing blood may cause temporary discomfort from the needle stick, bruising, and very rarely infection. Giving a saliva sample may result in dry mouth.
Will my medical information be kept private?
Information about you will be handled as confidentially as possible. Your name will not be used in any published reports from research performed using your specimen. Dr. Ahituv and selected staff members will have access to your information but they will not release any identifying information about you to researchers using your specimen. The University of California complies with the requirements of HIPAA and its privacy regulations, and with all other applicable laws that protect the confidentiality of your health information.
What are the costs of taking part in this study?
You will not be charged for any of the study treatments or procedures. All costs for this study including blood draw, saliva collection kits, and shipping charges will be covered by the study.
Will I be paid for taking part in the study?
No, you will not be paid for taking part in the study.
What are my rights if I take part in the study?
Taking part in this study is your choice. You may choose either to take part or not take part in the study. If you decide to take part in this study, you may leave the study at any time. Leaving the study will not affect your medical care. We will tell you about new information or changes in the study that may affect your health or your willingness to continue in the study.
What are we not doing in this study?
We cannot provide medical care nor can we diagnose a limb malformation. Only your physician is able to do that. We are not likely to immediately find genetic causes of every limb malformation. However, if potentially clinically significant results related to limb malformations are discovered participants will be referred to a CLIA-certified laboratory for repeat testing and proper notification to the individual. As a research lab we are not authorized to give test results directly to participants. We also cannot treat any limb malformations, nor can we screen for any other genetic mutations.