• Phenylketonuria (a genetic disorder leading to mental retardation)
• Congenital hypothyrodism (a metabolic disorder–sometimes genetic–leading to impaired brain development such as cerebral palsy)
• Galactosemia (a genetic disorder sometimes called “galactose diabetes” leading to a broad range of metabolic dysfunctions including mental retardation)
• Hemoglobinapathies (a number of genetic disorders affecting the hemoglobin of red blood cells as in sickle cell anemia).
• Biotinidase deficiency (a genetic disorder of an enzyme necessary for vitamin function with a variety of clinical manifestations including nervous system disorders)
• Congential adrenal hypoplasis (a developmental deficiency of the adrenal glands)
• Maple syrup urine disease (a genetic disorder leading to spasticity, convulsions, visual disorders and mental retardation)

An editorial in the New England Journal of Medicine examines the reasons for establishing a newborn screening procedure on a state-wide basis. In the past, new tests were included if the disorder was an important health problem, an economic screening test was available, there is a high detection rate and low false positive rate (it was “reliable”), and there was an effective intervention to treat the disorder and prevent associated complications.

Costs, politics (public demand) and scientific data usually have been the determining factors in deciding which tests will be made mandatory in screening newborn infants. However, the availability of technology to do the screening is now being presented as a major reason for including a specific disorder.

The author questions this criterion–availability of technology–as being compelling if there are no treatments available which can reverse the consequences of the disorder. He feels this is particularly true because there are generally only limited resources available at the State level to conduct screening and to assure there is follow-up to provide for appropriate treatment. He argues that newborn screening should be a joint Federal-State responsibility with the Federal government assisting the States financially, technically and priority wise in order to provide for high standards of examination and follow-up.

Comment:

We agree. With rapid advances being made in discovering the genetic basis for a number of newborn diseases, we now face the probability of being able to detect their presence shortly after


birth; however, there will probably be a very large number of such possibilities. Improved criteria have to be agreed upon nationally about which tests to include and on appropriate steps of follow-up. This is a national issue requiring both medical judgment and community involvement. It should be a joint federal-state endeavor and not become a poorly thought through administrative nightmare driven by a “need to know what went wrong logic”. Public resources need to be targeted to detection programs which will benefit the public. A thoughtful and practical program of screening newborns is one of these.

United Cerebral Palsy Research and Educational Foundation, June 2002