Newborn screening is a complicated system in a race against time. And if we lose the race, children can die from these disorders. If we can find affordable ways to make the system of newborn screening run the race faster, we can help save lives. With the help of the Robert Wood Johnson Foundation and experts across the University in health services, engineering and health policy, my research team is working to find a way to help us run a faster race.
What is newborn screening? Well, shortly after birth, every baby in the US is tested for a variety of inherited diseases. If babies who have these diseases are not found and started on treatment, they can become seriously ill, and, in some cases, die. This process of testing and treating children at birth for inherited diseases is called newborn screening. It is a 50 year-old public health program that is conducted in every state across the US.
To many people, the most important part of newborn screening is the testing. After all, without testing, you can’t figure out which babies have the diseases. But it’s important to realize that before the testing is done, a number of things need to happen. Most of the newborn screening tests require a few drops of blood drawn at a specific time – 24 to 36 hours after birth. So blood needs to be collected from each baby. This is usually done at the hospital before the babies go home. Then the blood needs to be sent to a specialized lab where the testing is done. In most states, the testing is done at the state public health lab. That’s a lot of hospitals sending a lot of specimens. In Michigan we have over 80 birthing centers.
After the testing is done, any results that need follow-up are sent to the child’s doctor so that they can notify the family and get the child additional testing. This is because newborn screening is a screening test. A screening test tries to find people who might have a disease. Not all people who have abnormal screening test results will have a disease. They will need additional testing to determine if they have the disease. This is usually called diagnostic testing. Why not do the diagnostic, or more definitive, testing at birth? Well, the diagnostic testing requires more blood, more time and more money. It would not be feasible to do this testing on all 4 million newborns in the country to find the 12,000 who have these diseases. So we quickly screen everyone and then focus on the few whose initial testing is abnormal.
All this – the testing, transport of blood, testing, reporting, more testing – needs to be done as quickly as possible because some of these diseases can develop in the first week or two of life. So you see, the testing is only the first step in a multi-step process that involves healthcare providers, hospitals, couriers, and laboratories. Without a functioning health system, a great newborn screening test doesn’t help anyone.
That’s why we are thrilled to receive a $350,000 grant from the Robert Wood Johnson Foundation to study how we can minimize the time between when blood is drawn and results get to parents and health care providers. We hope that our findings will help newborn screening programs deliver the best care to newborns across the country.
Take the next step
- Learn more about newborn screening.
- Read USA Today coverage and editorial on the issue.
- Learn about how newborns are screened for congenital heart defects.
Dr. Beth Tarini is a board-certified pediatrician. She currently serves as an Assistant Professor in the Department of Pediatrics and the Child Health Evaluation and Research (CHEAR) Unit. Her research focuses on the communication process and the health outcomes associated with genetic testing in pediatrics. She is particularly interested in pediatric population-based screening programs, such as newborn screening. Through her research, Dr. Tarini seeks to optimize communication about genetic testing between parents and providers in an effort to maximize health and minimize harm. She is a member of the U-M Institute for Healthcare Policy and Innovation.
University of Michigan C.S. Mott Children’s Hospital is consistently ranked one of the best hospitals in the country. It was nationally ranked in all ten pediatric specialties in U.S. News Media Group’s “America’s Best Children’s Hospitals,” and among the 10 best children’s hospitals in the nation by Parents Magazine. In December 2011, the hospital opened our new 12-story, state-of-the-art facility offering cutting-edge specialty services for newborns, children and women.