As a pediatrician, I’ve treated many children with chronic diseases and disabilities. Not every condition can be prevented, but many are treatable – if detected early. A few drops of blood from a newborn’s heel before leaving the hospital can mean the difference between life and death.
Since its inception 50 years ago, newborn screening has been credited with saving or improving the lives of thousands of children across the country. Recognized as one of greatest public health achievements of this century, newborn screening detects more than 50 types of serious yet treatable disorders, such as phenylketonuria, sickle cell anemia and cystic fibrosis. Left untreated, these diseases can lead to chronic illness, physical disability, intellectual disability or even death.
Many medical experts recommend state health departments save newborn screening blood spots for years to assure proper diagnosis, timely follow-up and reanalysis. Some states allow for indefinite storage for the same reasons. After all, there shouldn’t be an expiration date on important medical information. The ability to access and reference newborn blood samples is critical in cases of missed or delayed diagnoses and helpful in cases of unexplained death.
Newborn screening is accomplished primarily by biochemical, not DNA, testing. Parents who refuse newborn screening based on misinformation from privacy activists could jeopardize their children’s health. After receiving a pamphlet from Citizens’ Council for Health Freedom, Korissa Olson initially refused newborn screening for her son, Everett, who appeared healthy at birth. A nurse urged her to reconsider, and Korissa was shocked to discover that her son had a deadly disorder called galactosemia that needed immediate treatment involving a restrictive diet with a special formula. Newborn screening saved his life. Today Everett is a healthy 5-year-old, and Olson is a tireless advocate for newborn screening and extended storage of blood spots.
In addition to benefitting families, long-term storage of blood spots provides the basis for quality control and new test development. The lack of available stored blood spots has delayed the addition of new tests in some states. Infants die because of these delays. Without stored blood spots, newborn screening couldn’t function, and thousands of children would miss out on early diagnosis and treatment each year.
Of course, data privacy is extremely important, and there are many safeguards in place that prevent unlawful access to individual data. It’s worth noting that there has never been a single breach of data privacy involving newborn screening blood samples. Moreover, parents with privacy concerns have the option to pursue private newborn screening, refuse testing altogether, or decline to have their child’s blood samples stored.
Though newborn screening is a routine and essential component of pediatric care, some activists are determined to dismantle this lifesaving program, putting babies and families at risk. No child should suffer or die from a condition that can be easily detected at birth. Families should never feel pressured to sacrifice medical care for the sake of medical privacy when it comes to newborn screening. If parents have questions or concerns about the program, they should contact their pediatrician, family physician or state health department to get accurate information and answers.
Newborn screening saves lives – one blood spot at a time.