Newborn Screening: Complexities in Universal Genetic Testing

The following is an excerpt from:
Newborn Screening: Complexities in Universal Genetic Testing
By Green, Nancy S; Dolan, Siobhan M; Murray, Thomas H

It was originally published in The American Journal of Public Health. I found the article through RedOrbit at
newborn_screening_complexities_in_universal_genetic_testing/index.html?source=r_health on November 10, 2006. You can read the complete article by following the link. The title of this article is also linked to the RedOrbit article for as a long as it’s there.
One of the authors, Nancy Green, is the Medical Director, March of Dimes Birth Defect Foundation. (and I thought the March of Dimes advocated for newborn screening and the health of children; this makes you wonder for whom they really are advocating. I mean what part of “uniformly fatal if left untreated” doesn’t she understand?)


Newborn genetic screening has been a remarkable achievement for public health, providing populationwide detection of disorders that leads to improved clinical outcomes. Advances in medical genetics and testing technology permit the diagnosis of ever more diseases but also compel society to reconsider how NBS as a public health measure may best serve children, their families, and their communities. Powerful multiplex test technologies can identify children with anomalies that may-or may not-lead to disease. They can also find children for whom no treatment is yet available. Weighing the costs, risks, and benefits of screening in such cases is complex and will require consideration of the full range of costs and potential nonmedical benefits.33

New knowledge and NBS technologies raise additional challenges. For example, some experts advocate NBS for severe combined immunodeficiency, a uniformly fatal disorder if untreated and for which early diagnosis can lead to lifesaving bone marrow transplantation therapy.36 However, such treatments may not be within the moral compass of public health, as they are associated with risks of morbidity and mortality, expensive, and not universally available to all affected infants. Similar considerations arise with lysosomal storage disorders.37 Policy decisions will become increasingly complex and controversial regarding the use of NBS, understood as a public health measure to identify newborns with treatable diseases, when it is extended to include detecting genes with incomplete penetrance, genes for a given disease that only partially predict that disease, and disorders that cannot be successfully treated or for which treatment is available only to some newborns so identified.

In addition to the traditional single-gene disorders, conditions affected by multiple genes and gene-environment interactions raise additional possibilities for incorporating new disorders into NBS programs. Indeed, NBS for common complex diseases,38 such as asthma, is under consideration,39 with pilot screening for genetic susceptibility to diabetes40 already under way for early institution of prevention strategies for those at risk. These trends will likely push NBS programs and society to discuss the implications of revealing disease susceptibility rather than making a specific diagnosis in the first months of life.41 Some commentators have gone as far as to suggest a broad analysis of individual genomic variation from a NBS sample.42

NBS requires more resources to take advantage of current and future opportunities and challenges, including the creation of national consensus guidelines for screening and follow-up to establish universal minimal screening standards for the United States. Proposals to improve NBS, such as proposed test standards11 and key recommendations on NBS made by the American Academy of Pediatrics6 and the American College of Medical Genetics,8 are already sparking broad debate within the world of public health. These national efforts require sufficient support from the federal health system for translation to state programs and should result in identifying and standardizing best screening policies and practices across the United States; providing adequate resources for programs to incorporate long-term specialty treatment, genetic counseling and referral, and educational outreach to consumers and health providers; and increasing research capacity for well-designed prospective studies on the predictive value and clinical effectiveness of expanded screening and treatment.

As a public health program, NBS has done enormous good. New technologies and new forces are pushing NBS into unfamiliar territory, to which NBS must actively react to set its course for a sound future.”

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