U.S.

Report Attacks Testing Of Newborns

By CBSNews.com staff CBSNews.com staff

August 7, 2000 / 5:14 PM EDT / CBS

Of the four million babies born in this country every year, some will be automatically screened for a broad spectrum of genetic disorders. Others will be tested for just a few. It all depends on the state.

As CBS News medical correspondent Elizabeth Kaledin reports, it's a glaring public health inequity, according to a report released Monday by the American Academy of Pediatrics.

"Some babies - because of where they are born - will suffer mental retardation and some will even die because of the newborn screening program in that area," said Dr. Edward McCabe of the UCLA Medical Center.

James Lazarro died when he was just eight months old because he was born in Wisconsin, a state that did not screen for his rare metabolic disorder. Just a change in diet could have saved his life.

The screening tests, which involve a pin prick and a drop of blood, are inexpensive and could be widely available. Many disorders like James Lazarro's can be treated if caught early: cystic fibrosis, sickle cell anemia, and a broad range of metabolic problems.

For More Information

Neo-Gen Screening is a private laboratory that will do a genetic newborn screening test for any parent in any state.
Contact:
Dr. Edwin Naylor
110 Roessler Road
Pittsburgh, Pa. 15220-1014
Telephone: 412-341-8658

Dr. Allen Hogge is a geneticist who is an expert in genetic newborn screening.
Contact:
Dr. Allen Hogge
Magee-Women's Hospital
Telephone: 412-641-4168

The National Coalition for PKU and Allied Disorders is an advocacy group for parents.
Telephone: 877-99NCPAD

Tests are available for about 30 inherited diseases. But since using the test is a state-by-state decision, doctors said it is too often influenced by politics and economics - and children suffer.

"There really needs to be a national consensus to really develop a core group of tests that all babies should be screened for," McCabe said Tuesday on CBS News' The Early Show. "We need to bring together a group of individuals representing professionals, families, advocates nationally and really decide what is the core group of tests that every baby should be screened for."

The March of Dimes agrees and urges federal government intervention.

"Given that the states haven't been able to do it themselves, it certainly looks like it's time for the goverment to step in," said Dr. Don Mattison of the March of Dimes.

The AAP report summarized recommendations of a task force that met in May 1999 at the request of the federal Health Resources and Services Administration.

The HRSA and other agencies will use the report in working with states to "try to produce some national agreement on what tests should be developed or be part of a core set of tests that at a minimum states should test for," said Dr. Peter van Dyck, director of HRSA's Maternal and Child Health Bureau.

The report did not specify which or how many diseases should be included.

All states have mandatory newborn screening for phenylketonuria (PKU) and hypothyroidism, which can cause retardation if untreated. Most also routinely test for galactosemia, a rare inherited disorder in which the body can't metabolize sugar. Forty-one states routinely test for sickle-cell disease, an incurable blood disorder that occurs primarily in blacks.

"Both of those diseases are associated with mental retardation. But if identified early, the babies can be treated very effectively and have completely normal development," said McCabe, co-chair of a task force that prepared the report and physician-in-chief at UCLA's Mattel Children's Hospital.
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The March of Dimes would like tests for these four diseases to be among eight that should be mandatory for all newborns, spokeswoman Michele Kling said. The other four are congenital adrenal hyperplasia, a set of inherited disorders involving the synthesis of hormones; biotinidase deficiency, involving a crucial enzyme; maple syrup urine disease, a rare inborn metabolic disorder; and homocystinuria, another rare enzyme deficiency.

Cultural values and economics are among reasons for the testing disparity, the task force said.

States that don't have mandatory sickle-cell tests for newborns argue that they don't have enough black newborns to justify the cost or effort, but in many cases they test for diseases that are even more rare, McCabe said.

Robert Burke, whose son, Bryce, faces a lifetime of medical bills that already have surpassed half a million dollars, said that economically, uniform testing "is a no-brainer."

The Fort Worth, Texas, boy was born in 1996, seemingly healthy until he fell into a coma at 19 months. Bryce eventually was diagnosed with MCAD, an inherited enzyme deficiency disease that is easily treated with diet if detected early, but can otherwise cause severe retardation or death. It was too late for Bryce, now 4, who can't walk, talk or feed himself.

MCAD occurs in as many as 1 in 10,000 births and is about as common as PKU, said McCabe. But only four states routinely test all newborns for MCAD. Texas does not.

Testing for a single disease like PKU involves taking a drop of blood from a newborn's heel and costs $1 or less, McCabe said. With technology called tandem mass spectrometry, the same blood drop also can be used to test for MCD and more than 20 other diseases at a total cost of about $25, he said.

Burke, 41, worries that without uniform standards, the same thing that happened to his son will affect other families.

"Somebody out there today has a child being born and they're sitting there holding their son or daughter and thinking it's a miracle, so thankful that they have a healthy child, when what they really have is a time bomb waiting to go off," Burke said. "Somebody should have told them ... there's a way to defuse it."