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Genetic screening of newborns
1Genetic Service, Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA. levy_h@a1.tch.harvard.edu
Insights
Newborn screening for genetic diseases has evolved significantly. Advances like tandem mass spectrometry and DNA testing improve detection and reduce false positives for conditions such as phenylketonuria (PKU).
Area of Science:
- Public Health
- Genetics
- Biochemistry
Background:
- Newborn screening initiated over 35 years ago for phenylketonuria (PKU) to prevent intellectual disability.
- Successful PKU screening led to the inclusion of additional genetic disorders.
- Current screening practices encompass a range of genetic conditions.
Purpose of the Study:
- To review the current status of newborn screening for genetic diseases.
- To highlight recent advancements in screening methodologies and their impact.
- To discuss challenges and considerations arising from expanded screening.
Main Methods:
- Review of current newborn screening practices and genetic disorders covered.
- Emphasis on new methodologies including tandem mass spectrometry (MS-MS).
- Integration of molecular (DNA) testing to enhance diagnostic specificity.
Main Results:
- Tandem mass spectrometry (MS-MS) has expanded the scope of detectable genetic disorders.
- Molecular (DNA) testing reduces false-positive rates, improving screening accuracy.
- Advances have led to improved detection and management of various genetic conditions.
Conclusions:
- Newborn screening is a vital public health tool for early detection of genetic disorders.
- Technological advancements are continuously improving the effectiveness and specificity of screening.
- Ongoing evaluation of screening criteria, case detection, and specimen use is essential.
Abstract:
Screening of newborn infants for genetic disease began over 35 years ago as a public health measure to prevent mental retardation in phenylketonuria (PKU). It was so successful that tests for several other genetic disorders were added. We review the current status of this screening, including discussions of the genetic disorders often covered and the results of newborn screening for them. We emphasize recent advances. These include expansion of coverage for genetic disorders with the new methodology of tandem mass spectrometry (MS-MS) and the introduction of molecular (DNA) testing to increase the specificity of testing for several disorders, thereby reducing false-positive rates. These and other advances have also produced issues of criteria for screening, missed cases, and appropriate use of stored newborn specimens.