2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-State of Play: The Current Landscape of Newborn Screening for Pompe Disease in the United States

Pdf Summary

Pompe disease (PD) is a rare metabolic disorder caused by a deficiency in the enzyme acid α-glucosidase (GAA), which leads to the accumulation of glycogen in the body. In 2015, PD was added to the Recommended Uniform Screening Panel (RUSP) for newborn screening in the United States. However, not every state has implemented screening for PD. <br /><br />A study conducted in November 2022 examined the current landscape of newborn screening for PD in each state and U.S. territory. Of the 53 states and territories, 37 (70%) have implemented screening for PD, while 16 (30%) have not. The study received confirmatory responses from 43 newborn screening (NBS) programs.<br /><br />Of the states not currently screening, 10 reported plans to initiate screening in the near future. Among the states currently screening, 34 have 1st tier testing in place, while 6 do not perform 2nd tier screening following a positive 1st tier result. Fourteen states reported the use of molecular genetic 2nd tier testing.<br /><br />The turnaround time for reporting positive 1st tier testing results varied from 2 to 6 days, while 2nd tier testing ranged from 5 days to up to 21 days. The variation in turnaround time can lead to delays in treatment, potentially impacting disease progression in this high-risk population.<br /><br />The study suggests that all states should implement at least 1st tier screening for PD. Molecular genetic testing for 2nd tier testing appears to offer the fastest turnaround time and optimizes patient management. If states are unable to perform 2nd tier testing in-house, coordination with other states or private testing laboratories may be considered.<br /><br />Overall, the study highlights the need for timely and standardized newborn screening for PD to ensure early diagnosis and prompt initiation of treatment. By identifying infants with PD early, the goal is to stabilize patients and prevent disease progression.

Asset Subtitle

Presenting Author - Michael Kho, DO; Co-Author - Zenobia Gonsalves, MD; Co-Author - Lucas O. Duffy, MD; Co-Author - David F. Kronn, MD,FACMG;

Meta Tag

Enzyme Replacement Therapy

Genetic Testing

Metabolic Disorder

Policy Issues

Sequencing

Co-Author Zenobia Gonsalves, MD

Co-Author Lucas O. Duffy, MD

Co-Author David F. Kronn, MD,FACMG

Presenting Author Michael Kho, DO

Keywords

Pompe disease

metabolic disorder

acid α-glucosidase deficiency

glycogen accumulation

newborn screening

Recommended Uniform Screening Panel

state implementation of PD screening

1st tier testing

2nd tier testing

turnaround time