States Doubled Number of Newborns Tested for Genetic Diseases

States have nearly doubled the number of newborns being tested for a host of rare but devastating genetic diseases -- yet where you live still determines just how protected your baby will be, the March of Dimes reports.

For almost two years, specialists have urged that every U.S. newborn be checked for 29 disorders, to detect the few thousand who will need early treatment to avoid serious, even life-threatening, problems.

The geographic disparity is gradually easing: As of June 1, a total of 31 states required testing for more than 20 of those disorders, says the new analysis. Five states -- Iowa, Maryland, Mississippi, New Jersey and Virginia -- as well as Washington, D.C., required testing every newborn for the entire list of 29 conditions.

That's up from 23 states the previous year, and covered 64 percent of the nation's babies, nearly double the number tested in 2005.

Eight states -- Arkansas, Kansas, Montana, New Mexico, Oklahoma, Pennsylvania, Texas and West Virginia -- still were testing for fewer than 10 of those 29 conditions, the analysis found. Remaining states fell in the middle, although at least one, Wyoming, was scheduled to begin more comprehensive testing this month.

The March of Dimes report may confuse some consumers because it counts only the 29 conditions deemed most important for screening, and many states tout that they test for more -- meaning they include "secondary" disorders not on the core list adopted by the March of Dimes and the American College of Medical Genetics.

Well over 1 million babies born this year will fall short of good protection, concluded the child advocacy group, which has urged the federal government to intervene and set a nationwide standard for newborn screening.

"There is a sense of urgency to this," said March of Dimes president Dr. Jennifer Howse. "Delay equals death or a medical catastrophe."

Federal health officials are reviewing the status of newborn screening and are expected to report recommendations to Health and Human Services Secretary Mike Leavitt within a few months, said spokesman Bill Hall.

Today, every U.S. newborn is tested for a few rare diseases: hypothyroidism and the metabolic disease phenylketonuria, or PKU, that can cause retardation if not treated quickly; the blood disease sickle cell anemia; and galactosemia, a life-threatening dietary disorder.

Most also are checked for hearing loss, because early intervention is key to preventing serious problems with speech and language development.

But new technology can analyze a single drop of blood for dozens of other serious and occasionally life-threatening genetic diseases. Just because a test exists doesn't mean everyone needs it. So at the federal government's request, the geneticists' group in 2004 studied testing accuracy and the benefit of early diagnosis -- and recommended that routine newborn screening check for hearing loss plus 28 rare but serious diseases that could be successfully treated if parents knew about it in time.

The report seems to have spurred some state action even before the government whether to adopt it as a national standard, suggests the new March of Dimes analysis, released Tuesday.

"It's very frustrating that still ... where you're born literally can mean whether your child will live or die," said Pamela Sweeney of Brookfield, Conn., whose son, Jonathan, almost died of one of the illnesses, the metabolic disorder known as LCHAD, when he was 1 1/2.

These otherwise healthy babies lack enzymes that change stored fat into energy. That means going more than a few hours without food, like when Jonathan caught a common stomach virus, can be fatal unless they're given a quick glucose injection.

Jonathan's uncle, a state senator, introduced legislation to mandate more screening after the boy's near-miss in 2000; Connecticut now tests for 28 of the core disorders.

Howse advised expectant parents to check her group's Web site, http://www.modimes.org, to see if their state tests for at least the 29 core conditions. If not, she urged parents to talk with their doctors about getting test kits from private screening laboratories to bring to the hospital on delivery day. That supplemental testing costs $25 to $100, depending on the lab, and often is covered by insurance.