Secondary Reporting of G6PD Deficiency on Newborn Screening

Area of Science:

• Medical Genetics
• Public Health
• Neonatal Screening

Background:

• Alberta Newborn Screening Program implemented a two-tier screening approach in April 2019.
• This protocol screens for classic galactosemia and secondarily identifies glucose-6-phosphate dehydrogenase (G6PD) deficiency.
• Evaluating this expanded screening protocol is crucial for optimizing newborn health outcomes.

Purpose of the Study:

• To assess the performance of the two-tier screening protocol for galactosemia.
• To explore the impact and family acceptance of reporting secondary G6PD deficiency findings.
• To evaluate the communication and follow-up procedures for positive G6PD deficiency screens.

Main Methods:

• Retrospective analysis of newborn screening data.
• Surveys and interviews with parents of infants identified with G6PD deficiency.
• Review of communication and follow-up protocols for positive screening results.

Main Results:

• The two-tier approach significantly improved the positive predictive value (PPV) for galactosemia from 8% to 79%.
• 119 infants were identified with G6PD deficiency, achieving a PPV of 92%.
• Most parents found the G6PD deficiency diagnosis helpful, despite some residual worry; communication processes ensured appropriate follow-up.

Conclusions:

• The two-tier screening protocol enhances diagnostic accuracy for galactosemia.
• Reporting secondary G6PD deficiency findings is valuable and well-accepted by families.
• Established communication pathways facilitate effective follow-up for infants with G6PD deficiency.