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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Lessons from the past--looking to the future. Newborn screening
1Division of Genetics, Children's Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Insights
Newborn screening is evolving with new technologies like DNA analysis, enabling broader disorder detection. Careful consideration of treatment availability and disease certainty is crucial for future screening advancements.
Area of Science:
- Genetics and genomics
- Public health screening programs
- Neonatal medicine
Background:
- Newborn screening is currently in its early stages of development.
- Advancements in technologies like tandem mass spectrometry (MS/MS) and DNA analysis are expanding screening capabilities.
- The Guthrie specimen is a key resource for both current and future newborn screening initiatives.
Observation:
- DNA analysis of the Guthrie specimen allows for primary screening of numerous disorders previously undetectable at birth.
- Potential new screening targets include type I diabetes, severe combined immunodeficiency, fragile X syndrome, hereditary hemochromatosis, and lymphoblastic leukemia.
- In-hospital universal screening, such as for hearing impairment, represents a new model for newborn diagnostics.
Findings:
- The expansion of newborn screening faces challenges, including the lack of preventive treatments for many potential disorders.
- Abnormal screening results may indicate susceptibility rather than a definitive diagnosis, complicating clinical management.
- Historical screening experiences, like those with histidinemia and alpha 1-antitrypsin deficiency, highlight the importance of evaluating medical benefit and psychological impact.
Implications:
- Future newborn screening will likely incorporate a wider range of metabolic and non-metabolic disorders using advanced technologies.
- Developing consensus and clear criteria for newborn screening inclusion is essential, involving key health organizations.
- Lessons learned from past screening endeavors are critical for ensuring responsible and effective future newborn screening strategies.
Abstract:
It is safe to predict that we are still at an early stage of newborn screening. There is a high probability that in the future, MS/MS or a similar technology will be applied to screening for many additional disorders, both metabolic and non-metabolic. The ability to examine DNA in the Guthrie specimen, currently used in second-tier screening, has opened up opportunities for primary screening of a huge array of potential disorders that previously could not be identified in the newborn. Among the possibilities under current discussion are type I diabetes, severe combined immunodeficiency, fragile X syndrome, hereditary hemochromatosis, and lymphoblastic leukemia. The major problems with these considerations, however, are that preventive treatment is not yet possible for most of these disorders, and for many, the abnormal finding determines only susceptibility for and not certainty of disease. Our experiences in the past with such newborn screening as that for histidinemia, which was found not to produce disease, and alpha 1-antitrypsin deficiency, which was not medically beneficial and had negative psychological effects, are lessons that must be taken seriously when considering new avenues of screening. Beyond further application to the Guthrie blood specimen and testing in a centralized laboratory is the broader concept of newborn screening exemplified by universal screening for hearing impairment. This screening is conducted directly on the newborn in the newborn nursery. This type of in-hospital universal screening may have wider application in the future. Much activity is underway to develop a consensus on appropriate newborn screening. This activity has been led by the Genetic Disease Branch of the federal Maternal and Child Health Bureau (MCHB), Health Resources and Services Administration (HRSA), in collaboration with the American Academy of Pediatrics and, currently, in collaboration with the American College of Medical Genetics through a committee to promulgate criteria for inclusion in newborn screening. The aphorism, "good judgment comes from experience, and experience comes from bad judgment," may be applied to newborn screening. Our challenge now is to use the experience we have from the previous bad judgements to guarantee future good judgements.
