by Amy Spangler
July 07, 2010

Some are obscure, others more common, but all can have devastating consequences if not diagnosed right away—which is why Newborn Screening (NBS) is so important. And why Kathleen Sebelius, Secretary of Health and Human Services, acting on a recommendation from the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children has announced the first-ever national standards for newborn screening—standards that proponents of newborn screening hope each state will adopt.

Currently, newborn screening standards differ from state to state with the number of conditions screened for and the type of testing procedures used varying widely. With the availability of national standards, newborn screening advocates are hoping that all states will adopt these standards, and that all babies will have equal access to screening for potentially life-threatening but treatable diseases.

The March of Dimes has long criticized state screening programs that favor cost savings over infant health. In 2004, the American College of Medical Genetics (ACMG), joined with the March of Dimes in acknowledging the need for national standards. And in a report to the Health Resources and Services Administration (HRSA), ACMG identified 29 core conditions for newborn screening and 25 secondary targets (a total of 54 diseases). Many states (a total of 36) have also added hearing testing to the list of conditions required by newborn screening programs. In 2009, all 50 states and the District of Columbia had laws requiring that every baby be screened for 21 or more of the 29 core conditions. Currently, only 24 states and the District of Columbia require screening for all 29 core conditions. And only New Jersey and Minnesota screen for all 54 conditions—at a cost per newborn of $71 and $101 respectively.

History of newborn screening
Newborn screening programs began in the early 1960s when scientist Robert Guthrie, PhD. developed a test for phenylketonuria (PKU). Individuals with PKU lack an enzyme needed to process the amino acid phenylalanine. This amino acid is essential for normal growth, but too much phenylalanine can damage brain tissue and cause mental retardation. By putting babies with PKU on a special diet immediately after birth, scientists found the babies were able to develop with zero occurrence of any brain damage.

Since the development of the PKU test—which underscored the importance of early detection and treatment—scientists have developed screening tests for other conditions. Decisions about which conditions to include in newborn screening programs are made by state boards of health, unless mandated by federal law, which currently requires that all newborns be screened for only three diseases—phenylketonuria (PKU), congenital hypothyroidism, and sickle cell disease.

Factors that influence screening decisions include:

• how often the condition occurs in the general population
• whether an effective screening test exists
• whether the disorder is treatable
• cost of screening
• cost of acquiring and implementing new technology
• cost of follow-up if results are abnormal

Conditions most commonly included in state newborn screening programs include:

• Phenylketonuria (PKU)
• Congenital hypothyroidism
• Sickle cell disease
• Galactosemia
• Congenital adrenal hyperplasia
• Biotinidase deficiency
• Maple syrup urine disease
• Homocystinuria

States currently spend over $120 million on newborn screening—charging on average $20-40 per newborn. Primary care and specialty physicians are responsible for notifying the family of abnormal results and reconfirming initial results through additional testing. Physicians are also responsible for identifying appropriate management and treatment options and ensuring follow-up.

Newborn screening state-by-state
Learn about the newborn screening program in your state. Find out what tests are included. Discuss the pros and cons of screening for additional conditions including cost. Talk with your health care provider (doctor, midwife, or nurse) if you have a family history of a genetic disease, have given birth to a child with a genetic disease, or have reason to believe that your child may be at risk for a specific disease.

Newborn screening is usually done before your baby leaves the hospital (within 2-3 days after birth). It requires that a small sample of blood be taken from the heel of your baby’s foot. A positive test does not necessarily mean that your baby has a specific disease, but it does mean a second test is needed to confirm the results of the first test. Parents find it reassuring to know that most genetic diseases are rare. Should your child test positive for one of the conditions, it’s important to remember that most babies do well with early treatment.

For more information about newborn screening or to see how your state compares to others in terms of conditions screened for, check out the national screening map at the National Newborn Screening and Genetics Resource Center.