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Volume 27, Issue 465 |
April 17, 2006 |
NEWBORN GENETIC SCREENING: SOME STATES EXPANDING THE LIST OF CONDITIONS
By Alissa Johnson
For former Buffalo Bills quarterback Jim Kelly, the issue of screening newborns for genetic and metabolic disorders is personal. His son Hunter was not diagnosed as having Krabbe leukodystrophy until four months after his birth. Unable to swallow, Hunter and his parents battled the disease for eight years until the boy's death. "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," he said.
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.
After evaluating scientific evidence, the American College of Medical Genetics 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 that all infants born in the United States be uniform screened for a panel of 29 conditions. Metabolic disorders, which prevent proper breakdown 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 to be beneficial. Newborn screening laboratories can perform the additional screening on a blood sample collected at birth using a technology called tandem mass spectrometry.
STATES RESPOND
The report has spurred some states to action. Virginia Sen. 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 said.
Puller sponsored a bill passed in 2005 to expand newborn screening. It is supported by state appropriations and increased fees for screening. Puller's bill was just one of at least 30 newborn screening bills considered in state legislatures in 2005; ten states enacted legislations. More recently, the Michigan Legislature passed SB 794, which creates a newborn screening quality assurance advisory committee to review the list of conditions to be screened. The Georgia General Assembly passed HB 1066, which requires the health department to issue rules to expand the state newborn screening program, and opens the door for private labs to conduct the screening if it is shown that they can do so at a lower cost.
Some states screen for more than 30 disorders, while others look 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 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 Sen. Julie Denton. The senator had tried unsuccessfully for several years to expand the state's newborn screening program before succeeding in 2005. Before that, state law permitted additional newborn screening, but only with federal funding.
The law Denton sponsored enables the Kentucky Cabinet for Health Services to add conditions to the program based on recommendations by the American College of Medical Genetics. "I do not want to go back and have to go through all this again to try to get additional testing," she said. "Now it is an automatic trigger, and the legislature is out of the picture."
"The crusade began to expand newborn screening regardless of what the feds did," she added. "The budget was fairly lean, and it was difficult to push through." Denton also faced challenges from the administration and concerns voiced by hospital officials, who were supportive but worried that they would bear the brunt of the cost. But Denton's research demonstrated that insurers had increased reimbursement in states with expanded screening to help cover the additional costs.
With the hospitals and governor fully on board, the expanded program is underway, at an estimated cost of $3.1 million. The state will fund its portion of Medicaid and the cost of equipment, training and staff time of employees needed to conduct the screening. For 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 said.
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 (HRSA).
“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 said. He has performed reviews in Michigan, Texas, California and Colorado and has been asked to review programs in Arizona, Kansas, Arkansas and the U.S. Navy.
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’ 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 said. 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 said.
HRSA'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 with recommending improvements. The committee voted to accept and recommend the report and to forward it to 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.
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TANDEM MASS SPECTROMETRY
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 so repeated screenings may be eliminated).
Source: Association of State and Territorial Health Officials. |
Alissa Johnson is NCSL's expert on state efforts to address genetic and heritable disorders. This article was adapted from the original, which appeared in State Legislatures Magazine.
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