Frequently Asked Questions - Cheek Cells
What happens to the cheek cell brushes?
The brushes are sent to a central lab where the genetic material is removed from the brushes. Samples are labeled with a code number and stored until researchers are ready to use them. Researchers study the collected cheek cell samples to see whether certain genes cause or increase the risk of a certain birth defect. Researchers also look at how genes may interact with a woman’s environment and other factors gathered during the interview.
How long are the samples kept?
Cheek cell samples are kept in laboratories at each of the study sites in a secure place without participants’ names attached. Some cheek cell samples will be studied shortly after they are collected; others will be stored in a specimen bank for future use. These samples are crucial to helping us figure out the causes of birth defects and how to prevent them, so they will be kept for use unless participants request that their sample be removed and destroyed.
Will participants receive their results from the cheek cell samples?
No, for most findings they will not receive their test results. Instead, the data are pooled together and the findings are published in medical journals. Because birth defects are of great interest, findings are often covered in the news as well. They may also be used in health education materials. We will also publish study findings in a newsletter that we send to women who took part in the study. This newsletter will inform families of any major findings, especially if the results of a study might be useful for family members who are interested in genetic testing.
What kinds of tests will be done?
The goal of our study is to understand the causes of birth defects. Some genes are already thought to be important in the causes of birth defects. We study these genes to learn how changes in them could lead to a birth defect. Other genes that have not yet been looked at in birth defects studies will also be tested. Many of the gene studies will need large numbers of families. Often, genetic material will be stored for many years before we have enough families for studies to be done..
Will a cold or illness affect the samples?
No, being sick won't affect the quality of the cheek samples. You can collect a sample even when a person is sick.
Will collecting the samples hurt?
No. It will cause little to no discomfort for you or your family members.
What if I collect the samples, then forget to mail them for a while?
We will get better results if the samples get to us soon after they are collected. If your samples do not get mailed within a week, you can ask for another kit to collect new samples.
What if everyone can't give the samples at the same time?
It will be best if you collect all the samples at about the same time and then mail them. But if this is not possible, you can mail what you have. If you have other samples to send at a later time, you may ask for another mailing envelope.
What if I no longer want to be part of the study?
You may ask to be removed from the National Birth Defects Prevention Study at any time. Please contact your study center if you want to be removed from the study. After receiving this request, we will destroy your cheek cell samples.