A committee that advises the U.S. secretary of health and human services said Thursday it would study inconsistencies in newborn screening throughout the country, with the intent to give state public health labs guidance on how to better test newborns for deadly genetic disorders.

The action was prompted by a Milwaukee Journal Sentinel investigation late last year that found lab policies and protocols for newborn screening vary widely from state to state. As a result, babies can die or suffer brain damage when treatable genetic conditions aren’t detected soon after birth.

The lack of uniformity means a child who suffers permanent brain damage in one state might have been diagnosed and treated in another, the investigation found. Each state runs its own program and sets its own standards to detect the disorders.

“Every state should be looking at this very carefully, making adjustments appropriately to make sure they minimize bad outcomes,” said Joseph Bocchini, chairman of the committee, known as the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children.

The group made no specific recommendations, but agreed to discuss the issue at its next meeting in May.

Nearly every baby in the country is tested for genetic disorders shortly after birth. Blood is collected on a card that is sent to state public health labs for testing. About 1 in 800 children has a serious genetic disorder that can be treated if caught early.

Jessica Wade, a mother from Michigan addressed the committee this week, asking for more uniformity in screening so children like her son, Micah, aren’t missed in the future.

“I pray this committee will take a stand for … all babies in the United States who deserve better,” she said.

Wade has two boys with congenital hypothyroidism, a disorder where the thyroid doesn’t work properly. It’s considered the most common, preventable cause of intellectual disability.

Wade’s younger son, Eli, was diagnosed with the condition as a newborn and was started on thyroid hormone the next day. Thyroid hormone is crucial in the first three years of life, helping a baby’s brain, bones and organs develop. Eli is now a typically-developing 4-year-old.

Micah was not diagnosed until he was almost 3. The 8-year-old doesn’t speak and has significant developmental delays.

Eli was diagnosed because his newborn screening result was slightly above the cutoff used in Michigan to detect the disorder. For this test, a high result flags the baby as possibly having the disorder. Micah’s result was slightly below the cutoff, so his result was reported as “Normal.”

If Micah had been born 50 miles away in Indiana or across state lines in Ohio, his result would have been flagged as abnormal, because those states have lower cutoffs for congenital hypothyroidism.

“This is something that truly needs to be changed now,” his mother told the committee.

Bocchini responded that the committee “will have your child and other children in mind” when continuing to discuss the issue.

The Journal Sentinel investigation, published in December 2016, found that the federal advisory committee has discussed bringing more uniformity to newborn screening for years, but little action has been taken. There is also no authority or federal policy to ensure that suggestions made by the committee are adopted by states, or that states share improvements with one another.

Bocchini said committee members will be working from now until the next meeting in May to “move this along as quickly as possible.” The goal will be to offer states best practices and encourage better use of existing resources.

For example, the Mayo Clinic has developed software under a federal grant to improve the accuracy of newborn screening. Since 2004, researchers and labs around the world have built a database of true-positive cases to better predict which babies have a genetic disorder. The software, known as R4S, draws on screening results from 30 million babies throughout the world, 19,000 of whom were diagnosed with metabolic disorders.

Instead of relying on cutoff values that may be arbitrary or outdated, labs can compare each newborn’s results with babies who have actually been diagnosed. An algorithm analyzes results from each child tested by a state lab and flags those whose results are similar to babies known to have a disease. The software also can reveal how a lab’s cutoffs might miss babies.

But many state labs don’t use the software.

At the meeting, Dieter Matern, a committee member and co-director of the biochemical genetics laboratory at the Mayo Clinic, asked why New York isn’t fully utilizing the software, despite having sent someone from its state lab to Mayo for a week to learn more about it.

Michele Caggana, director of New York’s newborn screening program, said she and others have been traveling so they haven’t gotten time to discuss the software, and they still have questions about how it works.

In the past, Matern has expressed frustration with committee’s inability to make newborn screening more uniform throughout the country. On Thursday, he again pressed the group to have states use the software.

“I suggest we move quickly to use it, or come up with something else quickly that does the same (thing),” he said.

The committee also briefly discussed a report issued by the U.S. Government Accountability Office late last year that found most states have not met federal benchmarks to screen newborns in a timely manner.

As part of a bill signed by President Barack Obama in 2014, the report was required in response to a 2013 Milwaukee Journal Sentinel investigation that found infants have died and suffered permanent disabilities because of screening delays by hospitals and state labs. The investigation was triggered by a Wisconsin baby who nearly died and was left brain damaged due to a delayed screening in 2012.

In August, the committee will hear from a group that has been asked to provide recommendations on how states can improve, in addition to detailing some of the challenges states face in trying to meet the benchmarks set by the committee to make sure babies are screened quickly.

© 2017 Milwaukee Journal Sentinel
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