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Matern Child Health J. 2016 Mar;20(3):693-700. doi: 10.1007/s10995-015-1869-9.

Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review.

Author information

Department of Bioethics, Case Western Reserve University, School of Medicine, 10900 Euclid Avenue, Cleveland, OH, 44106-4976, USA.
New England Newborn Screening Program, University of Massachusetts Medical School, 305 South St., Jamaica Plain, MA, 02130, USA.
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway, Atlanta, GA, 30341, USA.
Laboratory Services Section, Newborn Screening Laboratory, Texas Department of State Health Services, PO Box 149347, MC 1947, Austin, TX, 78714-9347, USA.
CHEAR Unit, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.
Health Management and Policy, SPH CHEAR Unit, Pediatrics, University of Michigan Health System, 300 N Ingalls St, Rm 6E14, SPC 5456, Ann Arbor, MI, 48109, USA.
Association of Public Health Laboratories, 8515 Georgia Avenue, Suite 700, Silver Spring, MD, 20910, USA.
Department of Pediatrics, University of Utah, 75 South 2000 East #108, Salt Lake City, UT, 84112-8930, USA.
Department of Pediatrics, Duke University/Duke Clinical Research Institute, 2400 Pratt Street Rm 0311, Terrace Level, NP, Durham, NC, 27705, USA.
Department of Pediatrics, Columbia University Medical Center, 630 West 168 St, Black Building 2-241, Box 168, New York, NY, 10032, USA.



The Department of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children ("Advisory Committee") makes recommendations to the HHS Secretary regarding addition of new conditions to the national Recommended Uniform Screening Panel for newborns. The Advisory Committee's decision-making process includes assessing the net benefit of screening for nominated conditions, informed by systematic evidence reviews generated by an independent Condition Review Workgroup. The evidence base regarding harms associated with screening for specific conditions is often more limited than that for benefits.


The process for defining potential harms from newborn screening reviewed the frameworks from other public health evidence-based review processes, adapted to newborn screening by experts in systematic review, newborn screening programs and bioethics, with input from and approval by the Advisory Committee.


To support the Advisory Committee's review of nominated conditions, the Workgroup has developed a standardized approach to evaluation of harms and relevant gaps in the evidence. Types of harms include the physical burden to infants; psychosocial and logistic burdens to families from screening or diagnostic evaluation; increased risk of medical treatment for infants diagnosed earlier than children with clinical presentation; delayed diagnosis from false negative results; psychosocial harm from false positive results; uncertainty of clinical diagnosis, age of onset or clinical spectrum; and disparities in access to diagnosis or therapy.


Estimating the numbers of children at risk, the magnitude, timing and likelihood of harms will be integrated into Workgroup reports to the Advisory Committee.


Burdens; False positive; Harms; Net benefit; Newborn screening

[Available on 2017-03-01]
[Indexed for MEDLINE]
Free PMC Article

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