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Secondary Reporting of G6PD Deficiency on Newborn Screening
Stephanie C Hoang1,2, Pamela Blumenschein1,2, Margaret Lilley1,2
1Genetics & Genomics, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada.
Insights
Alberta
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.
Abstract:
In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. The goals of this study were (i) to evaluate the performance of a two-tier galactosemia screening protocol, (ii) to explore the impact on and acceptability to families of reporting G6PD deficiency as a secondary finding, and (iii) assess the communication and follow-up process for positive G6PD deficiency screening results. The two-tiered galactosemia approach increased the positive predictive value (PPV) for galactosemia from 8% to 79%. An additional 119 positive newborn screen results were reported for G6PD deficiency with a PPV of 92%. The results show that there may be utility in reporting G6PD deficiency results. Most parents who participated in the study reported having some residual worry around the unexpected diagnosis; however, all thought it was helpful to know of their child's diagnosis of G6PD deficiency. Finally, the communication process for reporting G6PD deficiency newborn screen results was determined to result in appropriate follow up of infants.
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