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Newborn screening for Krabbe's disease
Joseph J Orsini1, Carlos A Saavedra-Matiz2, Michael H Gelb3
1Laboratory of Human Genetics, Wadsworth Center, New York State Department of Health, Albany, New York. joseph.orsini@health.ny.gov.
Insights
Newborn screening for Krabbe's disease (KD) has identified a low incidence of infantile cases. Ongoing evaluation of screening processes is crucial for improving early detection and management of this rare genetic disorder.
Area of Science:
- Medical Genetics
- Neonatal Screening
- Neurology
Background:
- Krabbe's disease (KD) is a rare, severe, and progressive neurodegenerative disorder.
- Early diagnosis and intervention are critical for managing infantile KD, though current treatments are not curative.
- Live newborn screening programs for KD have been implemented in several US states.
Purpose of the Study:
- To review the development and implementation of screening and follow-up algorithms for Krabbe's disease (KD) in newborns.
- To present updated results from KD newborn screening programs in New York and Missouri.
- To discuss lessons learned and suggest improvements for KD screening to reduce referral rates and identify infants at risk for later-onset forms.
Main Methods:
- Analysis of data from newborn screening programs in New York and Missouri (August 2006 - August 2015).
- Review of screening and follow-up algorithm development processes.
- Evaluation of referral rates and confirmed KD diagnoses.
Main Results:
- Nearly 2.5 million infants were screened, with 443 (0.018%) referred for follow-up.
- Only five infants were diagnosed with infantile Krabbe's disease (KD).
- The combined incidence of infantile KD in New York and Missouri is approximately 1 in 500,000 live births.
Conclusions:
- Newborn screening for Krabbe's disease (KD) has demonstrated a low incidence of infantile cases.
- Continuous evaluation and refinement of screening protocols are essential to optimize early detection and management.
- Further improvements in screening algorithms are needed to reduce false positives and better identify infants at risk for later-onset KD.
Abstract:
Live newborn screening for Krabbe's disease (KD) was initiated in New York on August 7, 2006, and started in Missouri in August, 2012. As of August 7, 2015, nearly 2.5 million infants had been screened, and 443 (0.018%) infants had been referred for followup clinical evaluation; only five infants had been determined to have KD. As of August, 2015, the combined incidence of infantile KD in New York and Missouri is ∼1 per 500,000; however, patients who develop later-onset forms of KD may still emerge. This Review provides an overview of the processes used to develop the screening and followup algorithms. It also includes updated results from screening and discussion of observations, lessons learned, and suggested areas for improvement that will reduce referral rates and the number of infants defined as at risk for later-onset forms of KD. Although current treatment options for infants with early-infantile Krabbe's disease are not curative, over time treatment options should improve; in the meantime, it is essential to evaluate the lessons learned and to ensure that screening is completed in the best possible manner until these improvements can be realized. © 2016 Wiley Periodicals, Inc.
