Diagnostics & Imaging Week Washington Editor

WASHINGTON – “Some of these conditions may be rare, but if it’s your little boy or girl, it means everything,” Wendy Nawn, vice president of the Save Babies Through Screening Foundation (Malvern, Pennsylvania), told Diagnostics & Imaging Week.

Nawn is speaking from experience.

Five days after having her first child in 1998, her pediatrician called to say that screening of her newborn son detected a life-threatening metabolic disorder and that he could die suddenly and soon without treatment.

With quick diagnosis, the baby was treated and since has developed normally. He later was joined by a brother, who also had the condition. But armed with the knowledge of the genetic disorder and its treatment, Nawn said she felt confident about the second pregnancy.

“Of course it was alarming,” she said. “But we began to search for all the available information.”

She said she found an online support group immediately, but what she found was that most of the members were seeking support because they had a child who died.

“I was appalled,” she said. “It was family after family with children that passed away – kids that had been perfectly normal and then suffered brain damage. My understanding was that you find out before problems happen so you can hopefully intervene in time to prevent the problem.”

That’s when Nawn said she began asking questions.

• Why isn’t everyone getting the testing that saved her child?
• All babies get a newborn test, but what are they screening for?
• Is it expensive?
• What are the pros and cons of testing?

Soon after, she learned of Save Babies Through Screening, a national not-for-profit charity run by volunteers. When she joined after her first pregnancy, only three people were in the organization. Today, there are more than 150 members.

Since then, through her work with the foundation, Nawn has been “on a mission” to make sure all babies are equally and thoroughly tested, rather than receiving a differential number of tests based on residence.

The fact is that the number of screenings can vary widely from state to state, from as few as four to more than 30.

“They [hospitals and healthcare providers] need to raise the standard of care,” Nawn said. “Any medical professional who reads the journals knows that this is being done and the rest of the country needs to catch up, whether there is a law or not.”

Since the mid-1990s, tandem mass spectrometry has made it possible to screen for dozens of possible conditions using just a small drop of blood taken from a newborns heel. The March of Dimes (White Plains, New York) and the American College of Medical Genetics (ACMG; Bethesda, Maryland) in a recent report recommended that 29 conditions be included in a standard screening panel (D&IW; Aug. 11, 2005). The report was commissioned by the Health Resources and Services Administration (HRSA) of the U.S. Department of Human Services (HHS).

The report’s team analyzed 84 rare diseases but chose only those that met key criteria, including: that the screening test is reliable; that the disorder causes serious harm and has an effective treatment; and that intervention at birth is better than after symptoms develop.

Part of the problem is that testing machines are expensive, upwards of $400,000. And critics also point to the frequency of false positives or screening for genetic problems that have no cure, saying that both can lead to undue stress on parents and the healthcare system.

“Of course you want to get maximum benefit from newborn screening, and obviously the maximum benefit is saving a life,” Nawn said. “It’s true that in some cases, though it is small, even with screening, you can’t prevent a death because there is nothing you can do. But there still is a benefit.”

That benefit, she said, is the prevention of subsequent deaths. Plus, having as much information as possible, as in Nawn’s case, can help to plan future pregnancies. With this information parents may decide to adopt, or try an in vitro fertilization, which in some cases can help prevent certain disorders.

“People are mistaken,” she said. “They think that losing a child is the worst thing in the world. It’s not – what’s worse is losing more than one child. And that’s where you can get maximum benefit from newborn screening.”

In many cases, Nawn believes, the issue is workload, with many hospitals and states saying they can’t handle the technology at present.

But Nawn said, “If they can’t do it, they should farm it out to a lab that already knows it. The medical profession should adopt the recommendations as soon as possible.

“For example, it was recommended to screen children for sickle cell disease around 1985, but now, 20 years later, there are still some three or four states that aren’t doing it. Parents don’t care who does it. It just needs to get done.”

That may be the case, but ACMG cautions that though screening can be done by outside laboratories, the results, follow up and consultation must be carefully coordinated though a doctor familiar with the mother and baby’s case.

“Newborn screening is more than testing,” the agency’s report says. “It is a coordinated and comprehensive system consisting of education, screening, follow-up, diagnosis, treatment and management.”

“I think the primary reason for the difference is the speed at which states move,” Peter van Dyck, MD, associate administrator for the Maternal and Child Health bureau of HRSA, told Diagnostics & Imaging Week. “It depends upon the medical make-up in the state; it depends on the number of resources to buy or contract mass spectrometry machines.

“There’s a large responsibility to conduct a follow-up program for the parents of infants who have been identified. Some states have been better able than others to rally and get a program initiated. There are some discussions in different states on what to test for and how often state legislators meet because often laws need to be changed to require different testing.”

An expert panel, called the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, has been convened to evaluate the recent ACMG report and make recommendations to HHS.

The task force, of which van Dyck is a member, consists of geneticists, laboratory directors, pediatricians, parents, federal agencies and advocate groups.

HHS Secretary Mike Leavitt is expected to make final recommendations later this summer. As with childhood vaccinations, Leavitt’s decision will not bind individual states but is expected to influence their choice of screening tests and act as a uniform guide for states to follow.

“The federal government does not have the authority to regulate it. But we feel the guidance will be appropriate and it will provide the best guidance on the care for mothers and babies,” van Dyck explained. “For every state to plow that same ground doesn’t seem to make a lot of sense.”

He said the committee also is “concerned with the unevenness” of testing, state to state.

“It does not seem entirely fair that a newborn in one state is tested for five conditions, while a baby one state over is tested for 20 or 25,” he added. “That bothers parents. It bothers us. And it bothers the provider community.”

HRSA appears to agree with Nawn’s assessment that newborns should be tested, no matter what the current state policy is.

“If you’re a state that hasn’t been testing, you need to make the parents of newborns aware that those tests are available and that they can get them in some other way if they choose,” van Dyck said. “We believe that every parent and newborn in the U.S. should have access to an expended panel, whether their state is currently testing for all of them or not.”

That also was the recommendation of the committee reviewing the ACMG report.

Federal agencies provide technical assistance and some funding for regional newborn screening centers, and the March of Dimes also provides grants to states to purchase equipment.

“There should clearly be a uniform panel that all states should do, and having variation is not scientifically sound,” said R. Rodney Howell, MD, committee chairman and professor of pediatrics at the University of Miami School of Medicine (Miami), during a recent committee meeting. “We’re not creating a blueprint for a national policy, but we need to engage states in better ways.”

Some states have argued that inherited metabolic diseases are so uncommon that parents who want extra screening tests should pay out of pocket, anywhere from $25 to $100, to one of the nation’s four commercial newborn-screening labs.

“I am not aware of any state that is not wrestling with this issue right now,” he added. “Every state has either expanded their panel or is working on it. It’s not an issue of states not wanting to do it. It is an issue of evidence and evidence-based medicine that states are going through in order to provide the safest panel they believe is appropriate for their state.”