If pregnant people or new parents seek your guidance about the GUARDIAN Study or Expanded Newborn Screening, please refer them to our homepage to learn more about the study.
What You Need to Know
We will offer the testing at no cost to families, and no insurance is needed. The testing is done using the dried blood spot from standard newborn screening. Because no additional blood is drawn, there will be no harm or pain to the newborn baby.
We will test newborns for a panel of conditions not included in standard newborn screening. There are two groups of conditions the GUARDIAN study can test for. All babies participating in the study will be screened for conditions in Group 1. Parents can choose if they want to have their baby tested for Group 2 or not.
Parents who deliver at a New York Presbyterian Hospital may be invited to the study. Expecting parents can also inquire about the study before their baby is born.
Parents who deliver at a New York Presbyterian hospital may be invited to the study. Expecting parents can sign up for the study prenatally if they are more than 12 weeks pregnant and plan to deliver at one of the study locations. They will complete the study consent after the baby is born.
The consent process occurs entirely through our secure online permissions portal and is completely voluntary on the part of the parents.
There are several ways that expecting and new parents may learn about the GUARDIAN Study. They may see flyers for it in their OB/GYN’s office or other hospital locations. They may be invited by an in person study recruiter shortly after they deliver their baby or they may receive an email inviting them to the study shortly after delivering their baby.
This is what the email Invitation to the GUARDIAN Study may look like.
Although the study uses the blood sample taken for standard newborn screening, it is different in a few key ways. The GUARDIAN study is voluntary and done only if parents explicitly decide to complete the study testing. The test results are reported to families and to the child’s pediatrician. They are also reported to the New York State Department of Health Newborn Screening Program.
Parents and providers will be called with the test results about 3-6 weeks after the baby is enrolled in the study. Test results will also be included as an addendum to the standard Newborn screening report.
Testing for The GUARDIAN Study will be completed after the standard NBS panel is completed. Results may be ready about 3-6 weeks after the baby is enrolled in the study.
Most families will get a normal test result for their newborn. We will call parents with normal results and share them via a secure email.
Positive results, which mean your baby may have one of the conditions screened, will be communicated to parents and pediatricians by a genetic counselor and/or geneticist and a follow-up genetic counseling session will be completed as part of the study and at no cost. In some cases, there is additional testing to confirm the diagnosis. The genetic counselor and geneticist will give families information, counseling, and recommendations for medical care. The genetic counselor will also connect families with specialists, and inform parents about research studies looking for possible new treatments.
The genetic counselor will report the test results to the pediatrician if we cannot reach the family directly.
In these scenarios, the genetic counselor will call the pediatrician and let them know about the positive screen or confirmed diagnosis. We will provide information about the condition along with the lab result following this call. The genetic counselor will encourage the family to inform their baby’s pediatrician and offer to contact them directly if parents prefer.
The results of The GUARDIAN Study will be part of the child’s electronic health record in the same way that the standard newborn screening is. Being able to view these results will allow the doctor(s) and clinical team to provide the most appropriate care to the child.
GUARDIAN is led by a collaborative Columbia University Irving Medical Center, NewYork-Presbyterian Hospital, New York State Department of Health and the New York Genome Center.
You can help by referring expecting parents to the GUARDIAN study website.
If a pregnant person or new parent asks you for guidance about participating in the study, please direct them to our homepage. Our website has information for families in both English and Spanish. Families can contact our team at 718-514-4947 or [email protected].
You can download an GUARDIAN study flyer to share with patients and families.
Patient information is shared only with the Expanded Newborn Screening researchers and is regulated by HIPAA.
Genomic sequencing data generated by this study along with basic demographic information will be stored in an identifiable manner by GeneDx and Columbia University for the duration of the study. GeneDx will store the GS data in a CLIA manner for 7 years after the study is completed. Columbia University will store the data in a de-identified manner indefinitely, meaning that it will not have the child’s name or DOB and there is no end date. No additional analysis beyond what is completed as part of the study will be completed on the sample unless requested by the family or treating pediatrician or the family has consented to a new research study
Families and physicians can request a re-analysis of genomic sequencing data if the child has symptoms of a genetic condition not included on the screen.
Families and physicians will have the option to re-contact the study if their child becomes symptomatic of a possible genetic condition that was not included on the screen. Please contact us at 718-514-4947 or [email protected] to learn more about requesting data for a re-analysis that the family will have to pay for outside of the study.
The genomic sequencing data will also be anonymized and stored on a secure server and pooled genetic information will be available on an online browser to make the data available for the wider scientific community. This database will be available to the entire research community to advance all genetic research.