Up at 5AM: The 5AM Solutions Blog

Newborn Screening is Personal

Posted on Tue, Aug 12, 2014 @ 03:15 PM

It's no secret that we human beings will go to great lengths to keep our families safe andbabyfeet healthy. In the late 1940s, Dr. Robert Guthrie, a cancer doctor, learned that his son, John had mental retardation. About a decade later, after switching his focus to finding the causes of mental retardation, Dr. Guthrie's niece was born with phenylketonuria (PKU), a genetic disorder that prevents the body from metabolizing the amino acid phenylalanine. Untreated, PKU can lead to mental retardation. 

Dr. Guthrie had to act. PKU and mental retardation weren't abstractions. They were personal.

By 1961, he had developed the first test to screen newborns for PKU. Early detection means that babies born with the disorder have a chance for normal intellectual development and that the condition can be managed with diet and medication.

Today, because of that first test, every child born in the US and many kids around the world get a tiny needle prick on their heels shortly after birth to test for PKU and dozens of other serious, but -- if caught early -- usually treatable disorders.

Those tests can mean the difference between healthy lives and lifelong disorders. Sometimes it can be the difference between life and death. 

Newborn screening in the US is not uniform, although organizations like the American College of Medical Genetics and Genomics (ACMG) and others have long advocated for a uniform panel of tests. Some states test for 40+ conditions, while others test only a small handful, often due to tough budgetary constraints. 

For example, from 2002 - 2003, some California hospitals ran a newborn screening project which tested for conditions beyond those mandated by the state. During that time, two California families with baby boys named Zachary learned the tremendous difference that screening makes.

The Blacks delivered their baby in a hospital participating in the project. Through screening, their son was found to have a rare disorder called glutaric acidemia type 1 (GA1). He was immediately put on a diet to manage his condition and he's thriving.

The other family -- they Wyvills -- was not as lucky. Their son was born in a hospital a few miles away. He also had GA1, but it wasn't part of Baby Zachary Wyvill's newborn screen. He was already severely disabled by the time his family got a diagnosis. After the initial project, due to budgetary constraints, for a time, California reverted to its original newborn screening panel, which did not include GA1.

Fortunately, today, GA1 is on the list of disorders that California babies get screened for.

There is still work to be done. Last spring, NPR ran a sad -- but important -- story about a family's impact on getting legislation passed that added the treatable disorder that killed their young son to the list of disorders that New York hospitals test for. "Aidan's Law," as the legislation is known, made New York the first state to include adrenoleukodystrophy (ADL) to to its newborn screening list.

We have had the privilege to work on software projects that lead to better health outcomes, including those that have furthered research on those tiny droplets of blood. 5AMers are parents, aunts, uncles, and friends. It's personal for us, too.

You can find out which disorders your state screens for here

Image by Chris Sloan via flickr under a Creative Commons license.

Tags: genetic testing, 5AM, newborn screening


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