According to the March of Dimes, each year more than 12,000 newborns are identified as having a condition detected through newborn screening. Newborn screening is the practice of testing every newborn for certain genetic, metabolic, hormonal, and functional conditions. If diagnosed early, many of these conditions can be successfully managed, improving lives and reducing costs. If not diagnosed, or not diagnosed and treated in a timely manner, these conditions can cause severe disability or death.

Newborn Screening in the US

Through newborn screening, nearly every baby in the United States is tested for genetic disorders shortly after birth. Health care providers collect blood samples from newborns and send them to labs for testing. But a recent report issued by the U.S. Government Accountability Office found most states have not met federal benchmarks to screen 95 percent of blood samples within seven days of birth by 2017. The report was required as part of a bill signed by President Barack Obama in 2014, in response to a Milwaukee Journal Sentinel investigation that found infants have died and suffered permanent disabilities because of screening delays by hospitals and state labs.

Further, lab policies and protocols for newborn screening vary widely from state to state. The lack of uniformity in newborn screening means a child who suffers permanent disability 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.

In an effort to prevent treatable conditions from causing permanent disabilities in children, the Advisory Committee on Heritable Disorders in Newborns and Children in the U.S. Department of Health and Human Services is studying inconsistencies in newborn screening. “Disability Scoop” reports that the committee seeks to provide guidance to state public health labs on how to better test newborns for genetic disorders. According to Joseph Bocchini, chairman of the committee, every state should look at this issue carefully, making adjustments as appropriate to take every precaution to minimize bad outcomes,

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 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. Also Mayo Clinic controls access to it. Dieter Matern, a committee member and co-director of the biochemical genetics laboratory at the Mayo Clinic pressed the committee to move quickly to have states use the software to make newborn screening more uniform throughout the country.

One disorder that newborn screening tests identify is congenital hypothyroidism, a disorder where the child’s thyroid doesn’t work properly or is absent. Thyroid hormone is crucial in the first three years of life, helping a baby’s brain, bones and organs develop. Congenital hypothyroidism is considered the most common, preventable cause of intellectual disability. A newborn diagnosed with the condition is immediately started on replacement thyroid hormone, often within the first few days after birth and thereafter develops normally while taking a thyroid hormone pill daily.

When newborn screening levels for congenital hypothyroidism are slightly below a state’s cutoff, the result is reported as “Normal.” However, that cutoff varies from state to state, meaning the newborn screening levels for a child born in one state may be “flagged” as abnormal, triggering further investigation and treatment — while a child born a few miles away may be missed due to a lower cutoff level, possibly leading to a preventable disability.

A mother whose two children were born with congenital hypothyroidism recently addressed the committee. One of the children was diagnosed shortly after birth and began treatment immediately. He is a typically-developing four year old. However, his sibling’s newborn screening levels were not high enough to be flagged in the state where he was born and he did not begin treatment until he was nearly three years old, resulting in significant developmental delays.