The United States has a proud tradition of federalism, whereby individual states are free to devise policies that best suit the needs of their citizens, free from the interference of a distant federal government that may be poorly informed on matters of local concern.
This crazy-quilt approach often works well, but there are times, especially in the arena of health care, when the lack of a consistent national policy cannot be justified.
For example, take the issue of newborn screening for errors of inborn metabolism. Recent surveys show that 22 of the 50 states mandate screening for fewer than 10 of these genetic disorders, whereas 15 states test for more than 30. More than 60% of newborns in the US are tested for fewer than 10 of these conditions, despite the fact that reliable tests and treatments exist for many more. This has practical—and often tragic—consequences. It has been estimated that more than 1,000 newborns in recent years have had detectable conditions go undetected because of this state-to-state inconsistency. Testimony at a recent meeting of the Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children brought the point home. Here's Jana Monaco, mother of a child diagnosed (too late) with isovaleric acidemia, an organic acidemia with devastating outcome: “Stephen's fate was already determined because he was born in Virginia, where they only screen for 8 disorders. Had he been born in neighboring North Carolina, where the list includes 36 disorders, Stephen would be in a normal kindergarten class instead of occupying a special education slot.” Thus, whether one is born in Charlottesville or Charlotte becomes a matter of grave concern. Inequality is a fact of life, of course. But in a country with the resources of the US, this sort of arbitrary approach to newborn screening makes little sense.
Fortunately, there is a move afoot to rationalize and make uniform the screening of newborns for these disorders in the US. As this issue of Nature Genetics went to press, the American College of Medical Geneticists (ACMG) was set to invite public comment on a report that was requested by the Secretary's Advisory Committee. Before discussing this report, which was previewed at a recent meeting, it is important to mention briefly the state of the science, economics and politics of newborn screening in the US.
Newborn screening has evolved from the use of blood spots on filter paper—first developed by Robert Guthrie, who pioneered the test for phenylketonuria—to the use of tandem mass spectroscopy (MS/MS), which allows for the rapid and sensitive screening of a range of disorders of amino- and organic-acid metabolism. Many, if not all, of the disorders one would potentially test for can be detected by MS/MS. The machines are expensive—a pair would run about $600,000—but given the economies of scale that apply to the detection of a large panel of disorders, there is good reason to believe that standardized use of MS/MS can be cost effective. Recent comparative studies agree (JAMA 290, 2564–2572; 2003). That said, there would undoubtedly be additional follow-up costs for increased training of genetic counselors, technicians and physicians. State legislatures balk at the up-front price tag, but the use of regional centers (such as those in Oregon and Massachusetts) may help to control costs. On the political front, although federal departments do not have the authority to mandate expanded screening, they have a powerful bully pulpit. The March of Dimes charitable foundation has also been an effective advocate on this issue, as has the National Newborn Screening and Genetics Resource Center at the University of Texas, San Antonio.
The ACMG group, led by executive director Michael S. Watson, was charged with devising a way to determine which errors of inborn metabolism should be part of a uniform panel of disorders that would be screened in every newborn in the US. Watson and colleagues started with 84 disorders that could plausibly be tested for, including endocrine and hematologic disorders, amino- and fatty-acid disorders, lysosomal storage disorders and many others. Only 18 of these 84 are currently screened for in more than 50% of US newborns. They then surveyed nearly 300 stakeholders, asking for responses to a questionnaire on each disorder. A score was devised to reflect criteria such as incidence, disease burden, sensitivity of the test, effectiveness of early intervention, simplicity of treatment and others. Thirty of these disorders for which there is a test and a treatment available had a score that separated them significantly from the rest. The report recommends that these 30 disorders should be part of a core uniform panel. The disorder with the highest score (medium-chain acyl-CoA dehydrogenase (MCAD) deficiency) is currently screened for in only 31 states, highlighting the need for a more systematic approach to newborn screening.
The March of Dimes has already urged that the report's recommendations be adopted by every state. We agree. To address the concerns of those states that are operating under tight fiscal constraints, we would also urge the Congress to fully fund the Children's Health Act of 2000, which promised to provide resources for expanded newborn screening. In the interim, states should inform new parents of the availability in the private sector of tests for disorders that are not currently part of a state-mandated panel. Finally, we recommend that all interested geneticists read the ACMG report and make their voices heard during the public comment period.
Individually these disorders may be rare, but collectively they affect a considerable number of infants, and we should take this opportunity to fully apply hard-won knowledge in medical genetics to their benefit.
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Nature Genetics (2007)