Frequently Asked Questions

The GUARDIAN study is a research study to screen newborns for rare but serious conditions that are not included in the standard newborn screen. All babies who are part of the study will be screened for about 350 conditions that have treatment or medication available. Early diagnosis of one of these conditions can help the baby to start treatment as early as possible.  You can also choose to learn about conditions that do not currently have treatment and obtain an early diagnosis. Diagnosis of one of these conditions can help the baby to start other types of supports, like physical therapy, and treatment if and when it becomes available.

The GUARDIAN study is free and uses the same sample that is collected for standard newborn screening. No new sample is needed.

The results of the screen are shared with you and your baby’s pediatrician.

The GUARDIAN study looks for about 450 conditions that are not currently including in standard newborn screen.

If your baby has one of the conditions included in the GUARDIAN study, early diagnosis through the screening can help your baby receive the right care as soon as possible.

By taking part in the GUARDIAN study, you are helping to find new ways to detect rare conditions and help all babies live a healthier life.

You might feel anxious or sad if your baby has a positive screening result. You may feel anxious about any confirmatory testing that is required for your baby and/or for parents, and waiting for confirmatory test results could be stressful. You might feel anxious or sad if you learn your baby has one of the conditions included on the screen. You can speak to the study genetic counselor and geneticist to help you to understand the results and the next steps at any point.

In all research studies there is the small possibility of loss of confidentiality. This means that someone has access to your information who should not. The GUARDIAN research team works hard to protect your information. We protect the privacy and security of parents’ and babies’ information by keeping it in a special area on a secure and private network that is secure. It is never possible to guarantee that a system is completely secure, but we have many strong tools in place to protect your information.

Click here and sign up to be invited to the study after your baby is born. You can also talk with our study team before you deliver to answer any questions you have.

No, it is your decision about whether or not you want your baby to be part of the GUARDIAN study. You can choose not to have your baby be part of the study and your baby will still have the standard newborn screening. Your baby’s care and family care will not be affected by your decision to participate in the study.

The GUARDIAN study is free. There is no cost to you or your insurance company.

The following are free and part of the GUARDIAN study:

• Screening for approximately 450 conditions
• Genetic counseling for parents when a baby screens positive
• Review of a baby’s development when a baby screens positive
• Help finding follow-up care when a baby screens positive

The GUARDIAN study does not pay for follow up visits and treatment for babies who are diagnosed with the conditions screened.

A detailed discussion of the GUARDIAN study and an educational video are available HERE.

No, this screen is only looking at some genetic conditions. There are many other genetic conditions that are not included in this screen. Most health conditions that people develop in their lifetime are not included on this screen.

Your baby’s screening results can be accessed only by the people working on the study and the doctors caring for your baby. This including the New York State Department of Health, GeneDx and the study team at Columbia University Irving Medical Center.

The GUARDIAN research team works hard to protect your information. We protect the privacy and security of parents’ and babies’ information by keeping it in a special area on a secure and private network. It is never possible to guarantee that a system is completely secure, but we have many strong tools in place to protect your information.

No. No information that identifies who your baby or your family is will be shared outside of the GUARDIAN study.

Pooled, anonymous data will be shared with other researchers.

Anonymized means that your baby’s name, date of birth, or other information that could be used to identify them is removed. Pooled, means the data will be grouped together and no individual data will be shared. The data will not be shared until there are at least 10,000 participants in the study. Once there are 10,000 participants, the data will be grouped by the participant’s self-identified race and or ethnicity. To protect anonymity, race or ethnicity groups with fewer than 1000 participants will not be shared. The pooled data will be shared publicly with other researchers via a secure server. A secure servers have multiple security levels to ensure the data is safe and not accessed inappropriately. Sharing data allows other researchers, both those at Columbia as well as other institutions, to learn and advance science. Researchers outside of Columbia who access the data, will have no way of linking their findings back to individual people as the data is pooled. This means that researchers cannot link the data back to your family. The anonymized, pooled data shared on this server could be used for future research studies without additional consent from you.

We have a Certificate of Confidentiality from the National Institutes of Health (NIH) to help us protect your privacy. With this Certificate, we cannot be forced to provide information that may identify you, even by a court subpoena, in any federal, state, or local civil, criminal, administrative, legislative, or other proceedings. We will use the Certificate to resist any demands for information that would identify you, except as explained below. The Certificate cannot be used to resist a demand for information from representatives of the United States Government that is used for auditing or evaluation of projects they are responsible for overseeing or for information that must be provided in order to meet the requirements of the federal Food and Drug Administration (FDA). If an insurer, employer, or other person gets your written consent to receive research information, then we cannot use the Certificate to withhold that information.

The Genetic Information Non-Discrimination Act of 2008 (GINA) protects your child against genetic discrimination for employment and health insurance. GINA is a federal law that prevents insurance companies from using your genetic information to deny health insurance coverage. The law also prevents employers with 15 or more employees from getting or using genetic information for employment-related decisions. However, the law does not prevent companies that provide life insurance, disability insurance or long-term care insurance from using genetic information.

The GUARDIAN Study takes information privacy very seriously and has taken measures to provide the highest level of privacy protection. The GUARDIAN Study has a Certificate of Confidentiality from the National Institutes of Health (NIH) which never expires and prohibits disclosure of a participant’s personal and sensitive information to anyone outside the study team. This includes genetic information. You may read more about the NIH’s Certificate of Confidentiality here: https://grants.nih.gov/policy/humansubjects/coc/information-protected-CoC.htm.

Yes, you can change your mind and withdraw from the GUARDIAN study at any time. But if the baby’s GUARDIAN screening test has already been done, we will still contact you if the screening test is not normal. If you would like to withdraw from the GUARDIAN study, contact us immediately.

Yes, we will ask you to complete brief surveys after you get the results to learn about your experience. Some families we will be asked to completed an interview by phone.

A copy of your baby’s results will be emailed or mailed to you. If you would like to request a new copy, please email us.