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Published on: June 25, 2010
Newborn screening of metabolic disorders: recent progress and future developments
Piero Rinaldo1, James S Lim, Silvia Tortorelli
1Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.
Nestle Nutrition Workshop Series. Paediatric Programme
|July 16, 2008
Summary
Tandem mass spectrometry has greatly expanded newborn screening, enabling detection of over 40 conditions. Ongoing research and a formal review process in the US aim to add more conditions to newborn screening panels.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Tandem mass spectrometry (MS/MS) is a key technology driving the expansion of newborn screening programs.
- Current screening panels, like the American College of Medical Genetics (ACMG) recommendations, detect numerous conditions, necessitating a deep understanding of clinical and laboratory nuances.
- The standard of care in most US states includes a panel of 20 primary and 22 secondary conditions detectable by MS/MS.
Purpose of the Study:
- To highlight the importance of understanding the clinical and laboratory characteristics of conditions screened by MS/MS.
- To discuss the complexity of interpreting elevated markers and differential diagnoses in newborn screening.
- To outline the evolving landscape of newborn screening and the process for adding new conditions.
Main Methods:
- Review of the capabilities of tandem mass spectrometry in newborn screening.
- Analysis of the current standard of care and recommended screening panels.
- Description of the formal nomination and evidence-based review process for new candidate conditions in the US.
Main Results:
- Tandem mass spectrometry allows for the detection of over 40 conditions in a single newborn screening test.
- A formal process exists in the US for evaluating and potentially adding new conditions to newborn screening.
- Numerous infectious, genetic, and metabolic conditions are under investigation for inclusion in newborn screening.
Conclusions:
- The expansion of newborn screening via tandem mass spectrometry requires comprehensive understanding of tested conditions.
- A structured process is in place for the evidence-based review and potential implementation of new newborn screening tests.
- The field of newborn screening is dynamic, with continuous efforts to improve and broaden its scope.
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