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Panel Urges States to Screen Newborns for 30 Disorders

By Cheryl Simon Silver

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A panel of experts has recommended that all fifty states and the District of Columbia begin screening newborns for 30 genetic disorders that are detectable through a blood test.

The recommendations, which were made last week to the Department of Health and Human Services, could prompt an expansion of the newborn screening program available to the four million babies born in the U.S. each year.

For each of the 30 conditions on the list, there currently are things that parents and doctors can do to correct or avoid health and developmental problems later in life, such as changing a baby’s diet or feeding more frequently. None of the conditions can be seen by doctors at birth, but each can be reliably identified through laboratory testing or analysis, and there is an available treatment for each condition.

The highlighted states currently test newborns for at least 30 diseases.

The Department of Health and Human Services (HHS) created the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children several years ago and asked it to develop a list of conditions for which it recommends screening. The Committee also was asked to establish criteria that states could use to assess whether a condition should be included in its screening panel.

The committee turned to the nation’s leading organization of geneticists for advice. The American College of Medical Genetics, which is based in Bethesda, Maryland, under contract to HHS conducted a three-year study on newborn genetic conditions and screening. The findings form the basis for the new recommendations.

The report is not final. The public will have opportunity to comment, and any recommendations to the states will come from HSS. The final decisions on newborn screening will be left up to the states, however, as the federal government cannot mandate that the screens be performed.

The recommendation seeks to eliminate wide disparities in newborn screening from state to state. Some states, such as Mississippi, screen for more than 30 disorders, while many states screen for nine or fewer.

The recommended tests are for severe conditions for which one could intervene and make a difference, says Michael Watson, who led the study and is the executive director of the American College of Medical Genetics. In addition to the 30 core conditions, the report lists another 25 conditions for which there is a reliable screen, but so far no therapy to prevent or lessen the effect of the disease. The committee urges states to screen babies routinely for other conditions as reliable tests and treatments evolve.

States test most often for four disorders, including phenylketonuria (PKU), congenital hypothyroidism (CH), galactosemia (GAL), and sickle cell disease. The committee hopes that the expanded tests will identify the estimated 1,000 babies who are born in the United States each year with treatable metabolic and endocrine disorders, but who are not diagnosed early enough. To avoid physical impairment, developmental delays, and in some cases, death, most treatments must begin before symptoms are present.

Susan Waisbren, a geneticist at Children’s Hospital in Boston, Massachusetts, says that the screening tests can pick up a biochemical anomaly, such as an enzyme that is elevated or lacking in the blood. Many such signals are triggered only after the baby has eaten.

For instance, PKU is a rare, inherited metabolic disease in which the enzyme phenylalanine builds up in the body, and may result in mental retardation and other neurological problems. When a very strict, protein-free diet is begun within the first few weeks of life, however, affected children can develop normally, and can expect a normal life span. Every state requires newborn screening for PKU, which affects about one in 10,000 babies.

Likewise, a condition such as hypothyroidism, which is caused by low thyroid function, can lead to “profound developmental delay, but if you find it early it can be treated simply, and you end up with a normal child,” says R. Rodney Howell, a pediatrician with the University of Miami School of Medicine, and chair of the committee.

The value of screening goes beyond treatment, Waisbren says. “Part of it is knowing what your child has, so that the child is spared 10 to 15 painful tests to find out what’s wrong,” she says. “In our studies, we’ve found that children with these disorders often have five or six hospitalizations before they’re diagnosed.”

Uniform screening has become easier with the advent of an analytical technique that emerged in the late 1990s. The technique, called tandem mass spectrometry, makes it possible to screen for a number of conditions at the same time, and for the same cost. The test is rapid and each tandem mass spectrometry machine can handle blood samples from as many as 100,000 babies a year.

The machines cost in the range of $300,000, and testing requires at least one machine, and a back-up machine in case one breaks down. Some states avoid or delay their machine purchases by sending blood samples to regional testing facilities, or testing laboratories in other states.

The cost for screening is the same no matter how many tests included. The machines can be programmed now to screen for about 60 conditions. Each state specifies the conditions for which it wants reports, and sets its own fees.

Currently the fees range from $10 to $139, says Bradford Therrell, director of the National Newborn Screening and Genetics Resource Center in San Antonio, Texas. Many states use the fees to help pay for a range of services. Others do not charge a fee, but pay for the services with funds from other sources.

Therrell says states report that funding limitations are the main reason they have not yet expanded their screening program. Most patients are responsible for the fees. For states with a large number of Medicaid patients, however, the bill escalates quickly because the states split the Medicaid costs with the federal government.

Adding conditions also increases clinical expenses. Once the screening test indicates a baby may have one of the biochemical conditions, the baby’s doctor must be notified, the baby must be found and brought back to a hospital capable of performing more diagnostic tests, and then evaluated and followed up. At a minimum, expanded screening implies the need for sufficient clinical services and trained staff, if only for retesting and assessment, Therrell says.

Even as the report passes through set approval channels, “there is a lot of action pushing the Secretary to go forward,” Howell says. He cites the well-informed and well-connected lobby of groups advocating for specific disorders, which urge both adoption of the uniform screening panel, and Congressional funding for follow up, data collection, and research. He also notes the influence of the March of Dimes, which has announced support for the expanded newborn screening program.

In 2000, when the March of Dimes recommended that states routinely screen for nine biochemical conditions, a number of states expanded their screening program to include all nine.

“I can assure you that our recommendation will translate into advocacy efforts at the state and federal levels to encourage states to implement these guidelines,” says Nancy Green, medical director for the March of Dimes. “Even if the federal government doesn’t embrace it as a mandate, we have determined that we should.”

For information on newborn screening programs, go to the National Newborn Screening and Genetics Resource Center.

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