If you have had a baby in the last 15 years, you most likely did a newborn screening. This is where they prick the baby’s heel, collect a few drops on a screening card and send it off to the lab to test for 30+ different genetic disorders and conditions. And of course, it’s just not as simple as that.. So let’s get informed!

Summary

What is the newborn screening?

Newborn screening is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention.

The history of newborn screening

Newborn screening traces its origins to the discovery of phenylketonuria (PKU), an amino acid disorder that can lead to irreversible intellectual disability if not treated early. Pioneered by Robert Guthrie in the late 1960s, early screening tests using a bacterial inhibition assay revolutionized the field. Guthrie’s innovative approach involved collecting blood samples on filter paper, a practice still used worldwide.

Newborn screening as a public health service

The United States introduced it as a public health program shortly after Guthrie’s findings in the late 1960s. On April 24, 2008, President George W. Bush signed the Newborn Screening Saves Lives Act of 2007 aimed to increase awareness and enhance screening programs at the state level. Today, state or national governing bodies oversee screening programs, which vary in the number of conditions screened for.

How it works

Typically, blood samples are collected within the first 24-48 hours of life and sent for laboratory testing. If the results are normal, parents are rarely informed. However, if an abnormality is detected, further testing is conducted to confirm the diagnosis. Geneticists and pediatricians work together to coordinate follow-up testing and provide appropriate care.

Controversy with newborn screenings

Critics argue that certain disorders screened for are extremely rare, poorly understood, and lack effective treatments. There is also the risk of false positives and negatives, as with any genetic test. Additionally, issues related to genetic privacy and the storage of blood or DNA samples without parental consent have surfaced, prompting debates and legal cases.

What are your options?

You have the right to make informed decisions regarding newborn screening. It is essential to be aware of the options available, such as refusing testing, asking DNA to be destroyed, or finding a private testing option. State-specific guidelines and resources can help in making choices aligned with your preferences and values.

Mentioned on the show

Today article on false positive

CCHF

California Parents:

To ask NBS to destroy your baby’s or your own NBS blood spots —> Complete and submit this form: Parent Request to Have Newborn Blood Specimen Card Destroyed 

or

Contact the California Biobank Program Coordinator at 510-412-1500 or CaliforniaBiobank@cdph.ca.gov if you have any questions.

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