Newborn screening tries to find babies who may have certain serious diseases so it is important to ensure that tests can correctly detect those diseases and can do so consistently over time. Accurate newborn screening is needed to make sure all affected babies can be found and treated early. This early action can prevent or reduce health problems, enabling babies to live longer and healthier lives.

Newborn screening is an important public health program. The purpose of this program is to test babies for genetic diseases soon after birth so that they can get diagnosed and treated quickly, often before serious health problems happen. For some newborns, early diagnosis can mean the difference between life and death.

A small sample of blood is taken from the baby’s heel. The sample is sent to a laboratory for testing. If the test results show that the baby is at risk for a genetic disease, care and treatment can begin right away. In the United States, all states require newborn screening.

Yes, sisters and brothers who have the disease, or who carry the disease-causing variant(s), can participate.

No, you don’t have to participate. The care you receive at your clinic will not change, whether you participate or not.

You will not benefit directly from this project. Participating will not change anything about the medical care you get, but by participating, you will help to make sure that screening tests used to identify babies with genetic diseases work right. You can help babies who have the same disease as you get identified early so they can start treatment as right away.

To thank you for participating, you will get a Certificate of Appreciation from the CDC and a $50 gift card.

You and/or your child will only need to give 1 blood sample. If more samples of your disease-causing variant(s) are needed, your clinic may invite you to participate in the project again at a later date.

When you participate, your blood sample will be used to make sure that the laboratory tests used to find disease-causing variants are accurate. This helps ensure that babies get the right diagnoses and get the care they need. By participating, you can help babies get diagnosed early so that treatment can begin right away, often before they have serious health problems.

You are being asked to participate in this project because you have a genetic disease or you have a child with a genetic disease. This means that you have, or your child has, one or more disease-causing variants (also called “mutations”) that can be found through laboratory testing. Because of this, your blood can be used to help make sure that newborn screening tests are accurate.

Yes, you can contact your clinic at any point and let them know that you no longer want your blood sample used. The CDC will then destroy any remaining samples of your blood that they have.

If you want to participate, at your next regular appointment, clinic staff will go over the NBSA Project with you and answer any questions you have. You and/or your child will be asked to sign a consent form and your clinic will take a small blood sample — about 3 tablespoons for adults, and about 1 to 2 tablespoons for children. This should only take about 10 to 15 minutes.

The CDC will keep your blood until there are no more usable blood cells. The sample will only be used for the purposes described above. However, you can request that remaining samples of your blood be destroyed at any time by contacting the clinic that enrolled you in the project.

No, only your clinic will know that you have participated. Your blood sample will be sent to the CDC without your name or any other identifying information.

No, the CDC does not have any information that identifies who the blood sample is from. While the CDC will check the sample to make sure it contains the disease-causing variant(s), no results from those tests will be reported to your clinic.

Part of your blood sample will be used to make “dried blood spots” on special paper. These sheets are then sent to newborn screening labs to make sure that their testing is accurate. The other part of the sample will be used to develop cell lines, which means it will be used to grow your white blood cells in the laboratory. The cell lines allow the CDC to make many dried blood spots from just one small blood sample.

Your blood will be sent to a laboratory at the Centers for Disease Control and Prevention (CDC) in Georgia, where they will test and store the blood. The CDC will also send samples of your blood to newborn screening laboratories throughout the US to make sure that their testing is accurate.

The Newborn Screening Accuracy Project is a collaboration of the CDC, Sequoia Foundation, and specialty care clinics. The CDC pays for the project, processes and stores the blood samples, and sends them to newborn screening laboratories. Sequoia Foundation manages the project and coordinates with all of the clinics. The specialty care clinics enroll participants and collect and ship the blood samples to the CDC. The California Department of Public Health also helps Sequoia Foundation work with clinics in California.

Because of the Newborn Screening Saves Lives Act, the CDC is responsible for making sure that newborn screening tests are accurate. As a result, the CDC developed the Newborn Screening Quality Assurance Program. This program provides services and samples to screening programs throughout the US and in other parts of the world.

Founded in 1983, Sequoia Foundation is a non-profit organization based in California. We are dedicated to research, public policy interventions, and the application of solutions that seek to improve public health. Our goal is to empower all people, especially those from underserved populations, to participate in decisions to protect their health and environment. To achieve this, we have partnered with federal, state, local, and community-based organizations to address a variety of issues including maternal and child health, genetic diseases, asthma, biomonitoring, health tracking, tobacco exposure, contaminated drinking water, lead poisoning prevention, and more. Sequoia Foundation is funded through grants and contracts from federal, state and private sources.