Ethical issues with testing and treatment for Krabbe disease.

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• Early-infantile Krabbe disease (EIKD) is a fatal neurodegenerative disorder.
• Hematopoietic stem-cell transplantation (HSCT) shows promise if performed before symptom onset.
• New York pioneered EIKD newborn screening in 2006, but outcomes were suboptimal.

Purpose of the Study:

• To review the history of EIKD diagnosis and treatment.
• To evaluate the efficacy of current newborn screening methods for EIKD.
• To question the effectiveness of early HSCT and mandatory newborn screening.

Main Methods:

• Historical review of EIKD diagnostic and treatment efforts.
• Analysis of newborn screening data and outcomes.
• Comparison of diagnostic markers: psychosine vs. galactosylceramidase levels.

Main Results:

• Current EIKD screening tests are imprecise, leading to many false positives.
• Many identified 'at-risk' infants remain asymptomatic, with uncertain long-term prognosis.
• Psychosine may be a more specific diagnostic marker than galactosylceramidase levels.

Conclusions:

• Mandatory newborn screening for EIKD is currently inadequate.
• The efficacy of early HSCT for all screened infants is questionable.
• A moratorium on mandatory EIKD newborn screening is recommended pending further research.