Should all newborns get the same tests?

Great disparities exist among state-run screening programs. Some think it may be time for national standards.

By Victoria Stagg Elliott, amednews staff. Feb. 4, 2002.

California is launching a pilot program to expand its newborn screening program from four medical conditions to 30. Florida, which already screens for five metabolic diseases, is debating becoming the first state to screen for genetic predisposition to type 1 diabetes. And Wisconsin, which currently screens for 21 disorders, is running a pilot program to determine the feasibility of screening for five more.

These examples are evidence of the current patchwork policy applied to newborn screening. Diseases for which a newborn is tested are often determined by state-specific policies.

Who gets what?
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But with an increasing number of tests available and concerns about children who might slip through the cracks, government agencies, medical societies and patient advocacy groups are debating if a national screening program or national screening recommendations should be created.

"The states have done a very good job on their own of developing reliable screening procedures, and sometimes there's an advantage to having something worked on independently by 50 different states," said H.E. Wiltse, MD, PhD, professor of pediatrics with the University of Nebraska Medical Center in Omaha. "We might lose something if we go with uniform standards, but it may be time to do things differently."

The March of Dimes advocates a core of 10 tests. Meanwhile, the Dept. of Health and Human Services Maternal and Child Health Bureau has formed a working group to develop a list of conditions for which all infants should be screened and national standards for any additional tests. Their recommendations are expected within the next 18 months.

"It's a terrific idea," said Stephen Cederbaum, MD, chief of pediatric genetics with the University of California, Los Angeles. He lobbied for expansion of his state's program. "Why should somebody born 10 miles from somebody else have a vastly different opportunity for preventive care?"

California screens newborns for 4 conditions. It is considering adding 26 more.

Advocates say a more uniform system will address some of the current disparities in health care. In addition, with tandem mass spectrometry, one test can be as cheap as 30, so the increase in tests would not necessarily translate into higher screening costs.

"It might be cheaper if more newborns were having these tests, and it would make it more efficient to have regional laboratories for states with the smaller populations," said Dr. Wiltse.

The concept, however, challenges states' rights. There also is little consensus on what all newborns should be screened for. Several medical organizations have come out in favor of national standards while avoiding specifics of what those standards should be. The American Academy of Pediatrics recommended universal newborn hearing screening in 1999, but the U.S. Preventive Services Task Force last year found insufficient evidence to follow suit.

Experts also say any national program needs to be flexible enough to allow states to screen for conditions that may be more prevalent in their own backyard. Wisconsin, for example, screens for cystic fibrosis, which is more common in the heavily Caucasian state than in others that have a larger nonwhite population.

"There are tremendous ethnic differences," said Dr. Cederbaum. "You have to have programs that are flexible enough to address the needs of the population."

Experts are also concerned that the increase in testing may mean an increase in false-positives or that money will not be there for follow-up care.

"Some of these conditions are so rare there may only be a handful of experts," said Peter van Dyck, MD, MPH, director of the Maternal and Child Health Bureau, "How do we make sure the person in Maine who's positive on the screen and the person in Oregon both can get to somebody who can treat that condition?"

ADDITIONAL INFORMATION:

Who gets what?

A review of selected states:

Montana: Screens for 3 disorders.
Connecticut: Screens for 8 disorders.
Massachusetts: Screens for 10 disorders.
Iowa: A pilot program screens for 36 disorders.