Infant disease testing still a gamble from state to state.

Byline: From The Register-Guard and news service reports

WASHINGTON - Gracie Clay's mother says her child could still be alive had she been born in, say, Mississippi instead of Georgia: Which state you live in determines whether your newborn is tested for several dozen rare but devastating inherited diseases.

Many of these illnesses, such as the one that killed 19-month-old Gracie in February, can be treated easily if parents know in time. Testing requires a single drop of blood. But many states mandate newborn testing for only a fraction of the diseases.

Next week, a government advisory committee is expected to move to end the geographic disparity, as it debates whether every state should test every newborn for 30 genetic illnesses.

Oregon, which became the first state to test every infant for a disorder called PKU back in 1962, is a national leader in newborn screening, said Michael Skeels, who directs the state public health lab in Portland.

Today, the public health lab checks newborns for 30 disorders, and runs a regional screening lab that tests the blood of about 130,000 infants in five Northwest states, Skeels said.

It costs about $27 to test the blood of one baby, but several studies have shown that every dollar spent on screening saves $3 or $4 later in life on health care and education costs, he said. Screening saves lives and heartache.

"We should not be having babies die because of not having a test that's relatively simple," said Dr. R. Rodney Howell, a University of Miami pediatrician who heads the panel that advises Health and Human Services Secretary Tommy Thompson.

The influential March of Dimes, which has a seat on that advisory panel, isn't waiting. Last week it increased its own newborn testing recommendations from nine diseases to 30, persuaded by a long-awaited study from leading geneticists that forms the crux of next week's debate.

That study, soon to be published in a medical journal, ``will put a lot of pressure on states,'' March of Dimes medical director Dr. Nancy Green predicted.

Meanwhile, what's the advice for expectant parents?

They should check what tests their state requires.

In states where the number of required tests is fewer than 30, parents should consider a private screening lab.

In Oregon, however, the state increased the number of disorders to be screened from six to 30 in 2001. It's one of 21 states that offers core screening tests recommended by the March of Dimes.

The tests are usually done just before a baby is discharged from the hospital and again at the first visit with the pediatrician, two to four weeks later.

"Most of the diseases, the earlier you recognize them the better," Springfield pediatrician Dr. Todd Huffman said.

Often the diseases require a simple dietary modification to fend off long-term problems, he said. Left unchecked, some can result in permanent mental retardation or worse.

"The state you live in decides the fate of your child if you're not aware," said Molly Clay, of Atlanta.

Although a public health worker, she didn't learn until after Gracie's death that Georgia tested for eight diseases but not her daughter's. The state is adding that one to its list.

Today, every U.S. baby is tested for two rare diseases that can cause retardation if untreated: hypothyroidism and the metabolic disease phenylketonuria, or PKU.

But new technology called tandem mass spectrometry can analyze a single drop of blood for more than 40 other serious, sometimes life-threatening, genetic diseases.

Many are metabolic disorders with such tongue-twisting names that they go by acronyms, like the MCAD that killed Gracie Clay. These otherwise healthy babies lack enzymes that change stored fat into energy, meaning going more than a few hours without food can be fatal. Gracie, for example, had some middle-of-the-night vomiting that seemed like a routine stomach bug, but she died hours later in her sleep. Had anyone known she had MCAD, a quick glucose injection almost certainly would have saved her, Clay said.

These are very rare diseases that strike about 4,000 babies a year. But a recent federal analysis suggests more than 1,000 a year may go undiagnosed because of state testing variation.

Fifteen states require testing for five or fewer of the diseases, according to the U.S. National Newborn Screening and Genetics Resource Center. Nineteen states test for 25 diseases or more; the rest fall in the middle.

Next week's meeting could add to the pressure to increase screening if government advisers urge setting the first national standard for which tests to require - and HHS ultimately follows the advice. Hospitals that don't follow national standards could wind up in court.

Until the debate's settled, a national database - on the Web at genes-r-us.uthscsa.edu - lists what tests states now require.

Register-Guard reporter Tim Christie contributed to this report.