A Study to Keep
Healthy Babies,
Healthy
The BeginNGS (pronounced “beginnings”) research study offers a genetic screening test for your baby; to help ensure they have the healthiest start in life. The BeginNGS screening test screens for hundreds of childhood diseases with treatments or medicines. This screening test is offered through your pediatrician and experts at Rady Children’s Institute for Genomic Medicine in San Diego, California.
Most babies will not have a genetic disease, but early treatment for those who do can lead to a healthier life.
Who Can Join the BeginNGS Study?
-
- Your baby is 28 days old or younger OR you are expecting a baby
- You have chosen a pediatrician or primary care group
- You (the parent or legal guardian) are 18 years of age or older
- Your baby is a patient at one of our participating study sites
Path to Participation
Congrats! You’re expecting a baby.
OR
Congrats! Your baby is born.
Discuss BeginNGS with your doctor.
AND
Review with your partner/family.
If you would like to enroll in BeginNGS, we’ll go through the next steps.
Consent, Testing, and Results
A member of the BeginNGS team will contact you to answer questions and complete enrollment forms
Our team will arrange a quick heel prick to collect the sample.
Sample goes to the BeginNGS lab.
Review with your partner/family.Frequently Asked Questions (FAQ)
What is the BeginNGS Study?
BeginNGS is a research study that offers a genetic screening test for newborn babies which screens for hundreds of treatable diseases. The BeginNGS screening test is done at Rady Children’s Institute for Genomic Medicine.
Do I have to pay to participate?
There is no cost to you, your family, or your child’s medical insurance for participating in the BeginNGS study. The study is funded by research grants and donations.
What is the goal of the BeginNGS Study?
The goal of the BeginNGS study is to find babies who have a disease early in life to help find the right help for them. The study also looks at how useful, easy, and affordable the BeginNGS genetic test is compared to regular newborn screening and medical care.
How is the BeginNGS research study different than regular newborn screening?
Every baby in the United States receives a routine newborn screening test (heel stick test) that looks for between 35 and 100 different treatable diseases, depending on your state. The BeginNGS research study uses genetic sequencing to screen for over 500 treatable childhood genetic diseases.
How is the BeginNGS screening test different from the screening I had during pregnancy?
You may have had one or multiple screening tests during pregnancy. The BeginNGS test is different. The BeginNGS test:
- Directly tests DNA using a small amount of blood
- Screens for many more treatable conditions than are tested for in pregnancy
- Is an optional research study that provides extra information
How is research different than my routine health care?
Research studies often introduce a new type of care, such as a test or treatment. The goal is to understand how healthcare changes for patients and science. We understand the value of care in regular care, and new research approaches are still unproven.
What happens if my baby is part of the BeginNGS study? How is the sample collected?
The research team will coordinate a time that works to collect a small blood sample (called a “heel stick”). There is just one small poke needed to collect this sample. This sample will then be sent to Rady Children’s Institute for Genomic Medicine for testing. If there is another way to gather your baby’s sample, the research team may talk to you about this if a heel prick can be avoided.
What will you find with this test?
BeginNGS tests for genetic diseases that start during childhood and have treatments available. The full list of diseases screened can be found here: BeginNGS Gene List.
What happens after the test?
You and your baby’s doctor will get a result report around two weeks from when the test gets to the lab.
What happens if my baby screens negative?
A negative (or normal) screen is the most common result from the BeginNGS test. A normal result means that the test did not find genetic changes. This lowers the chance for over 400 treatable genetic diseases. Your baby should continue regular care through their doctor. A negative result does not guarantee that your baby will always be healthy. BeginNGS does not screen for all conditions.
What happens if my baby screens positive?
A small number of babies will get a positive (or high risk) result from the BeginNGS test. A positive result means that one or more genetic differences were found. Additional testing is required to double-check if your baby will have a health problem. A positive result is not a diagnosis. Your baby’s doctor will arrange additional testing that is recommended with guidance from experts.
What are the risks to my baby?
There are some potential risks to the BeginNGS study including pain or issues from the heel stick and issues related to privacy and genetic testing. More information on specific risks can be found in the BeginNGS consent form. If you are interested in learning more about these risks, you can reach out to our study staff.
What are you going to be doing with my baby’s genetic information after testing?
BeginNGS researchers may look at information to learn more about any changes to improve healthcare and make screening better for future babies.
Will I be contacted for any other reason?
The study team may contact you to request an update on your baby’s health. You may also be contacted in the future if there are additional studies that help your baby’s health. You can say no at any time.
How will I receive my baby’s result?
Your baby’s result will be returned to you through an electronic link or by mail. If you have any questions about your baby’s results, please reach out to the study team or your baby’s doctor.
How will this study benefit my baby and others?
Even though your baby may appear healthy, they may have genetic changes that could cause problems during childhood. We wish to identify risks for these treatable disorders before your baby becomes sick to help them as early as possible. Future babies may benefit from the science of this study as well.
Will I be compensated for my baby’s participation?
You will not be directly paid for participating in this study.
I am a gestational carrier (or surrogate). Can the baby still participate?
The baby may still be eligible after delivery if the intended parents want to participate. Please contact the study team for more information.
I am not ready to enroll my baby in a research study right now. Can I participate later?
Absolutely. If questions come up, please reach out to our study team. You can come back to the study invite link if you later decide you’d like to enroll your baby before 28 days of life. You can come back to this link and enroll in the study any time before then.
My question is not listed here
You can reach the research team by calling 858.576.1700 extension 228652 or emailing RCIGM_Research@rchsd.org.
Contact Us
To learn more about the BeginNGS research study and how you can participate,
email us at RCIGM_Research@rchsd.org.