An ounce of prevention: early detection of certain diseases in infants can save lives and prevent suffering.

Like most parents, Jill Kelly and her husband, Pro Football Hall of Famer Jim Kelly were thrilled when their infant son Hunter came home from the hospital. Along with the new arrival came sleepless nights, but the Kellys were pros, with two girls under their belt. When Hunter began crying most of the day, however, they decided to visit their pediatrician.

Doctors were not able to pinpoint the cause of Hunter's suffering, Krabbe Disease, until he was 4 months old. Treatment was not available for the illness, which is an inherited disorder that results in severe neurological damage and eventual death. The Kellys were devastated. Jim Kelly recalls: "Our biggest nightmare came to fruition when our son Hunter was diagnosed with Krabbe leukodystrophy. From that point on, I was ticked off at the world."

As reality sank in, the Kellys tried to cope with their son's fate. With his wife's encouragement, Jim decided to use his reputation as a former Buffalo Bills quarterback to draw attention to the issue. He created The Hunter's Hope Foundation, which funds Krabbe Disease research. Through their work, the Kellys learned that children diagnosed shortly after birth with the disease may benefit from a cord blood transplant, which Kelly says has been a miracle for some children.

"We are seeing kids who are able to walk, talk and smile. They are not quite 100 percent, but at least they have a certain quality of life. At least they can smile. Hunter never really smiled." Oxygen, medication for seizures, reflux and breathing, and suctioning approximately 100 to 150 times a day because of his inability to swallow, allowed their son to battle the disease for eight years until his recent death.

EARLY DETECTION

Hunter's condition is just one of many in which an early diagnosis may mean a world of difference. State public health programs screen an estimated 4.1 million newborns annually for genetic and metabolic disorders. Early detection of many abnormalities can prevent severe disability, mental retardation or even death. It may also save states and families money by avoiding financially burdensome medical costs and state institutional services. But whether a newborn receives screening for a particular condition depends on his or her birthplace. The list of conditions screened for at birth (referred to as a newborn screening panel) differs from state to state. This disparity and the technological advances that allow for expanded screening have led some groups, such as the March of Dimes, to ask all states to screen for a basic uniform panel.

The American College of Medical Genetics, after evaluating scientific evidence, recommended certain conditions for which all infants should be screened. It was a challenge, according to Michael Watson, executive director. "Because of the rarity of the diseases, there was not an enormous literature base for the conditions. So we focused on a two-tiered approach using experts to evaluate these conditions. We went through newborn screening programs all over the world and identified any condition that had been screened."

In the end, an array of experts carefully considered a list of more than 80 disorders. The study report "Newborn Screening: Toward a Uniform Panel and System" recommended uniform screening of all infants born in the United States for a panel of 29 conditions. Metabolic disorders, which prevent proper break down of food, make up the majority of the panel. Simply adhering to a special diet in those cases may prevent otherwise grave consequences such as mental retardation. The remainder of the panel includes blood disorders, cystic fibrosis, and other conditions for which early detection and treatment were determined beneficial. Newborn screening laboratories can perform the additional screening on a blood sample already collected at birth with the use of technology called tandem mass spectrometry.

STATES RESPOND

The report has spurred some states to action. Virginia Senator Linda "Toddy" Puller sits on the state Joint Commission on Health Care, which sets health policy and recommends legislative changes.

"Once the American College of Medical Genetics got behind it [expanded newborn screening], it really added an impetus to go ahead and fund additional screening. It will save lives and pain for families," she says.

Puller sponsored the bill passed this year to expand newborn screening. It will be supported by state appropriations and increased fees for screening.

The bill was just one of at least 30 newborn screening bills considered in state legislatures this year. Nine were enacted. Virginia joined 22 other states that now require screening for more than 30 disorders. Others screen for as few as four disorders. One approach for states is to offer, rather than require, expanded screening, and most states do make some additional screening available. The majority of states also permit parents to opt out of newborn screening for religious or other reasons.

Whatever the approach, state legislatures play a key role in the newborn screening system by appropriating funds or authorizing fees to make it possible. According to a recent report by the Association of State and Territorial Health Officials, fees typically cover the cost of the screening itself, but states may use state general revenues, Title V Maternal and Child Health Block Grant funds or other public resources to support follow-up services, testing or treatment for babies who screen positive. These resources also may fill in gaps in Medicaid or private insurance coverage.

In some states, the panel of disorders screened for is set in statute, while in others the state health department or another entity has the authority to alter the panel. State statutes or regulations also may address payment for newborn screening services; the provision of medical foods or other treatments for a disorder; privacy and confidentiality issues; parent education about newborn screening; contracting services; laboratory standards; and policies regarding the storage, use and disposal of blood samples.

Sorting through the technical aspects of screening can be a hurdle. But it is one that the Kentucky General Assembly will not face again thanks to legislation sponsored by Senator Julie Denton.

"I do not want to go back and have to go through all this again to try to get additional testing," she says. "Now it is an automatic trigger, and the legislature is out of the picture." The Kentucky Cabinet for Health Services is now permitted to add conditions to the program based on recommendations by the American College of Medical Genetics.

Senator Denton tried unsuccessfully for several years to expand the state's newborn screening program before successfully doing so in 2005. Before that, state law permitted additional newborn screening but only with federal funding.

"The crusade began to expand newborn screening regardless of what the feds did. The budget was fairly lean, and it was difficult to push it through," she says. Denton also faced challenges from the administration and concerns on the part of hospitals, which were supportive but worried that they would bear the brunt of the cost. But Denton's research demonstrated that insurance companies had increased reimbursement in states with expanded screening to help cover the additional cost.

With the hospitals and the governor on board, the expanded program is underway and scheduled to be fully operational in January. It will cost an estimated $3.1 million. The state will fund its portion of Medicaid and the cost of equipment, training and staff time of employees necessary to conduct the screening. For Senator Denton, it is worth every penny. "It broke my heart every time I talked to parents who had lost a child and said that if only they had known there were additional tests available, they would have paid for it themselves. This fills in that gap of knowledge and ensures that their children's quality of life and life itself is preserved," Denton says.

FOLLOW-UP CARE

According to most newborn screening experts and advocates, diagnosis, follow-up, treatment and evaluation are also vital components of a comprehensive newborn screening system to ensure that children with potentially life threatening conditions receive necessary care. Bradford Therrell of the National Newborn Screening and Genetics Resource Center provides technical assistance to states that want to expand and refine their newborn screening programs with support from the Health Resources and Services Administration.

"States are asking us to address issues about which tests should be added, technical aspects of instrumentation, the follow-up personnel needed, cost-effectiveness, reasonable costs and relative ratios between laboratory costs and follow-up costs," Therrell says. He has recently performed reviews in Michigan, Texas, California and Colorado and has been asked by Arizona, Kansas, Arkansas and the U.S. Navy to review their programs.

Although technological advances present unprecedented opportunities to detect newborn diseases, the cost of new equipment, training and staff time is a challenge. So is paying for treatment and medical foods, and the difficulty of following up on infants in rural areas or whose families move.

The American College of Medical Genetics's Watson understands that the most common obstacle is cost. "Disease prevention actually requires an investment on the front end and the returns are spread out over the future," he says. Newborn screening won't bring an immediate short-term gain that proves the cost-effectiveness of the investment. "But it does have a long-term payoff in avoidance of hospitalization, increased productivity, and all those sorts of things that can be measured over decades," he says.

The Health Resources and Services Administration's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children is charged with reviewing and reporting to the secretary of the Department of Health and Human Services (HHS) on newborn and childhood screening and recommending improvements. The committee voted to accept and recommend the report and to forward it to the secretary of HHS. Watson hopes that if the recommendations are instituted, a well-developed system will have benefits beyond newborn screening. For example, the framework might be used to allow for patient management and follow-up at any time such as when children enter school or reach majority age.

Jim Kelly has his eye on the future, too. His son's condition was not included in the uniform newborn screening panel recommended by the American College of Medical Genetics. But a pilot project in New York will determine if the condition would be an appropriate screening target. Overall, Kelly is pleased with the progress that he sees.

"Every child deserves a chance at a good life, and if there is a way that we can make sure they have that chance, let's do it."

SCREENING FOR NEWBORN DISORDERS

State laws vary for the number of disorders infants are tested for at birth. Some require screening for more than 30 diseases. Others screen as few as four disorders. Additional screening may be available in some states through pilot studies or on the request of parents.

TANDEM MASS SPECTROMETRY OPENS A NEW FRONTIER 

When tandem mass spectrometry was introduced in the 1990s as a new laboratory technique, the opportunities to detect genetic (inherited) conditions changed dramatically. The technique can detect up to 80 additional conditions from one newborn screening blood sample. Many state public health agencies are now using this technology. States that have expanded use of the technology report added costs for staff, laboratory services, and follow-up of babies that test positive on a screen. Such costs are, however, offset by the ability to detect additional conditions and the efficiency of the technology (e.g., groups of rare disorders can be simultaneously detected and repeated screens may be eliminated).

Source: Association of State and Territorial Health Officials, Financing State Newborn Screening Systems in an Era of Change, March 2005.

WEB RESOURCES FOR STATE LEGISLATORS

NCSL Newborn Genetic and Metabolic Disease Screening Page www.ncsl.org/programs/health/genetics/newborn.htm

The National Newborn Screening and Genetics Resource Center http://genes-r-us.uthscsa.edu

Newborn Screening: Toward a Uniform Screening Panel and System www.mchb.hrsa.gov/screening

Alissa Johnson covers genetics policies for NCSL in the Washington, D.C., office.