Diagnostics & Imaging Week Washington Editor

Though expanded newborn screening is required by law in many states, most babies still are not covered by the full panel of tests recommended by experts, according to a state-by-state report card released last month by the March of Dimes (White Plains, New York).

The March of Dimes recommends that every baby born in the U.S. receive screening for a uniform panel of 29 disorders that includes metabolic conditions and hearing deficiency, based on a report conducted by the American College of Medical Genetics (ACMG; Bethesda, Maryland).

Although there are many genetic disorders that could be screened for, the core 29 tests were selected by the ACMMG because there is a therapy for each one.

Newborn screening is done before a hospital discharge by testing a few drops of blood, usually from a newborn’s heel, and tested using a tandem mass spectrometer. If a result is positive, the infant is re-tested and given treatment as soon as possible, before becoming seriously ill from the disease.

In states where testing is limited, parents can arrange for additional tests, which often come at additional expense.

Some critics and state health services argue that many of the tests are expensive, can lead to false positives, and can cause trauma if a disease for which there is no cure is picked up by the test. Advocates say the tests are worth it, even if one life is saved, or if it allows families to adequately plan for future births.

All states and U.S. territories screen newborns for phenylketonuria (PKU), hypothyroidism and galactosemia. Almost all states also screen for sickle cell anemia, congenital adrenal hyperplasia and hearing loss.

PKU affects one baby in 25,000, while sickle cell anemia affects about one in 400 African-American babies and at least one in 5,000 of all babies in the U.S.

“Parents need to know that the extent of newborn screening for serious and treatable disorders depends entirely on the state in which their baby is born,” said Jennifer Howse, MD, president of the March of Dimes. “For infants affected with these conditions, the tests can mean the difference between life and death, or health and lifelong disability.”

As of June, 23 states had expanded their newborn screening programs to include more than 20 of the 29 disorders recommended in a report released this year by the ACMG, which accounts for about 38% of the 4 million U.S. babies born each year.

Twelve states, with roughly 20% of newborns, require screening for between 10 and 20 disorders. Another 15 – including Texas, Pennsylvania, New Hampshire, Utah, West Virginia, and the District of Columbia, representing about 43% of babies – currently screen for fewer than 10 conditions.

Mississippi, which is home to just 1% of babies born in the U.S. annually, provides screening for all 29 recommended conditions.

Until recently, California only screened for a few genetic disorders: phenylketonuria, hypothyroidism, galacto-semia and a family of blood disorders that includes sickle cell disease. Beginning this month, the state has plans to being testing for as many as 40 diseases.

Just eight states are screening for cystic fibrosis, even though it is one of the most common genetic diseases in America.

“This is a snapshot of the progress that’s been made by states in newborn screening over the past year or so,” said Howse. “There is a growing understanding that newborn screening is a simple, safe, and efficient way to prevent a potentially devastating problem.” She said she applauds the efforts of governors, legislators, parents, and volunteers, but “much more work remains to be done.”

The cost of testing varies from state to state. About five states conduct screenings for no charge, while some cost anywhere from $15 to $150.