Frequently Asked Questions

What is the GUARDIAN study?

The GUARDIAN study is a research study to screen newborns for rare but serious conditions that are not included in the standard newborn screening. All babies who are part of the study will be screened for about 157 conditions that have treatment or medication available. Early diagnosis of one of these conditions can help the baby 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 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.

How is the GUARDIAN study different from standard newborn screening?

The GUARDIAN study looks for about 250 conditions that are not currently included in standard newborn screening.

What good things could happen if my baby is part of the GUARDIAN study?

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

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

What bad things could happen if my baby is part of the GUARDIAN study?

You might feel anxious or sad if you learn your baby has one of the conditions included in the screening. You may speak to the study genetic counselor and geneticist to help you understand the results and the next steps at any point.

In all research studies there is the small possibility of loss of confidentiality. This would mean that someone gained access to your information who should not have. The GUARDIAN research team works hard to protect your information. We protect the privacy and security of parents’ and babies’ information by keeping it 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.

How do I sign my baby up for the GUARDIAN study?

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

Does my baby have to be part of the GUARDIAN study?

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

What is the cost of the GUARDIAN 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 250 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.

How is the GUARDIAN study done?

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

Does the GUARDIAN study screen for all genetic conditions?

No, this screening is only looking at some genetic conditions. There are many other genetic conditions that are not included. Most health conditions that people may develop in their lifetime are not part of this screening. Learn more about the conditions screened HERE.

Who has access to my baby’s screening results?

Your baby’s screening results can be accessed only by the people working on the study and the doctors caring for your baby. This includes the New York State Department of Health Newborn Study Program and the study team at Columbia University Irving Medical Center. The results of your baby’s screening are placed in your baby’s medical record at NewYork-Presbyterian Hospitals.

Will information about my baby be shared with people outside of the GUARDIAN study?

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.

Who has access to the genomic sequencing data about my baby?

Genomic sequencing data generated by this study along with basic demographic information will be stored in an identifiable manner by Columbia University and GeneDx Laboratory, doing the genetic testing, for the duration of the study. Columbia University will store the data in a de-identified manner indefinitely, meaning that it will not have the child’s name or DOB. Other researchers at Columbia and outside of Columbia including industry can request the GUARDIAN research team to look through the data to find individuals who might be eligible for their research studies. No additional analysis beyond what is completed as part of the study will be done on the sample unless requested by the family or treating pediatrician or if the family has consented to a new research study.

De-identified data, will be shared with Illumina, a partner of this study. Illumina is a research and clinical genetic laboratory. They will use the data only for the development and validation of an expanded NBS study. They will not share data with outside entities.

How is my baby’s information protected?

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.

Can I withdraw from the study?

Yes, you can change your mind and withdraw from the GUARDIAN study at any time. Although, 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 at [email protected] or 718-514-4947. You can also leave us a message HERE.

Will I be contacted for any other reasons?

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

How do I get a copy of my baby’s results?

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.

What if I have other questions?

You can contact us at 718-514-4947 or [email protected].

Note: This website does not take the place of talking with your doctor. If you have questions or concerns about whether GUARDIAN is right for you, talk to your doctor before signing up.