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, like the one that killed 19-month-old Gracie last 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.
"We should not be having babies die because of not having a test that's relatively simple," says Dr. R. Rodney Howell, a University of Miami pediatrician who chairs 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 decided to increase 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," predicted March of Dimes' medical director, Dr. Nancy Green. "Regardless of what the advisory committee does ... this is going to irrevocably change newborn screening in the U.S."
Meanwhile, what's the advice for expectant parents? Check what tests your state requires now. If it's fewer than 30, "we do have to suggest that the family at least consider a private screening lab," Green says. Extra testing costs $25 to $100, depending on the lab.
"If I'd just known about newborn screening," laments Molly Clay of Atlanta. Although a public health worker, she didn't learn until Gracie died that Georgia tested for eight diseases, but not her daughter's. The state is adding that one to its list.
"The state you live in decides the fate of your child if you're not aware," says Clay, who encourages parents to seek that supplemental testing.
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. Most also are tested for sickle cell anemia, a blood disease.
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 says.
These are very rare diseases, thought together to strike about 4,000 babies a year. But a recent federal analysis suggests that 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.
Some states already are heeding pressure to increase screening. Missouri is set to move from five diseases to 25 early next year. Last month, Ohio began requiring screening for 30 diseases, up from 13.
Next week's meeting could increase that pressure 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 health standards could wind up in court.
In addition, states often cite tight budgets for limiting testing. Per person, the tests cost roughly $50, covered by insurance. But first, the state must buy, or share with a neighboring state, a $400,000 machine to do the analysis.
Until the debate's settled, a national database - http://genes-r-us.uthscsa.edu - lists what tests states now require. For supplemental screening, that Web site also lists private labs, such as Baylor Medical Center or Pediatrix Medical Group, that sell test kits for parents to bring to the hospital.
