Newborn Screening

Newborn Screening Photo Credit: Clipart.com

In the early 2000s, doctors were calling for national testing standards for newborns. In 2010, new national standards were issued that will assist states to align their newborn screening programs with "the most up-to-date research, technology, laboratory and public health standards and practices." You'll hear why this step is so important in this Science Update.


Standardizing infant testing. I'm Bob Hirshon and this is Science Update.

In some states, every newborn baby gets a blood test that can detect more than thirty serious diseases. But in other states, it's a very different story. According to geneticist Piero Rinaldo of the Mayo Clinic, just having a state senator with an affected child could make the difference.

Now, he and dozens of other experts have developed uniform standards for newborn screening. And they're calling on the federal governmnet to adopt them.


Finally people are beginning to realize that not only there are huge discrepancies from state to state, but also that the decision-making process is really not driven by scientific evidence.

He says any costs of additional screening would be paid back in emergency treatments prevented and young lives saved. I'm Bob Hirshon for AAAS, the Science Society.

Making Sense of the Research

The United States is a federalist government. Simply put, that means that individual state governments have a fair amount of leeway to set their own laws and policies, without interference from Washington, D.C.

This may sound more like social studies than science, but both come into play here. That's because state governments, rather than the federal government, handle many public health issues. The advantage of this is that states can manage smaller volumes of records and focus more specifically on their own health problems. The diseases of Alaska may be very different from the diseases of Florida.

It just so happens that screening newborn babies for metabolic diseases falls under state jurisdiction. These are genetic disorders with complicated names like "isovaleric academia." Most parents have never heard of these diseases, but they can cause mental disorders and even death if left untreated. Early detection can make a huge difference.

As the technology has evolved to detect these diseases, so have the state laws. But because the laws have developed independently, they've arrived at very different places. As of 2011, however, all 50 states and the District of Columbia now require that every baby be screened for 26 or more of the now 30 serious genetic or functional disorders on the uniform panel. The Newborn Screening Saves Lives Act, which was enacted in 2008, provided the framework for national screening guidelines.

As Rinaldo points out, the differences in state screening programs often have little to do with medicine or even economics. The states that require more newborn screening aren't necessarily richer than the states that require less. The equipment for the screening is expensive, but there are ways to control the up-front cost. Intangible factors like the personalities of the people making the laws, or personal experiences of powerful politicians, can make one state demand rigorous testing while a neighboring state requires very little.

In order for uniform standards to be adopted, either the states themselves would have to agree to it, or the federal government would have to step in and require standardization. Either route may be fraught with conflict and delay. However, Rinaldo argues that every moment that's wasted could threaten another young life.

Now try and answer these questions:

  1. Why might it be difficult for all 50 states to adopt the same newborn screening standards as established by the federal government?
  2. Divide your class in half. Imagine each half is setting public health policy for a particular state. One state requires extensive newborn screening, while the other state requires very little. See if each half of the class can come up with reasons why their state got to where it is today.
  3. What are the difficulties in turning a state public health law into a national law?

For Educators

The Newborn Genetic and Metabolic Disease Screening page of The National Conference of State Legislatures has links to the specific newborn screening laws for each state.

The U.S. government's Newborn Screening: Toward a Uniform Screening Panel and System task force report includes the findings and recommendations of scientists like Dr. Rinaldo.

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