Implementing Next-Generation Sequencing as Part of Newborn Screening in State Public Health Laboratories: Status and Barriers
Ethical Legal Social Issues (ELSI) Public Health and Policy
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Primary Categories:
- Public Health Genetics
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Secondary Categories:
- Public Health Genetics
Introduction:
Newborn screening (NBS) programs are vital public health initiatives, facilitating early diagnosis and treatment for thousands of infants annually in the United States. Originally targeting phenylketonuria (PKU) in the 1960s, NBS has expanded to encompass a broad spectrum of disorders, aided by technological advancements such as tandem mass spectrometry and next-generation sequencing (NGS). NGS, in particular, offers the potential to revolutionize NBS and multiple ongoing research projects position NGS as a supplement to current screening techniques. While NGS presents numerous benefits, its integration into NBS faces various challenges, including technical / analytic feasibility, financial barriers, and logistical considerations. This study aimed to assess the barriers, expectations, and plans of state NBS programs regarding NGS integration, providing insights to guide advancements and inform stakeholders.
Methods:
Data was collected from October to December of 2023 through a 54-question survey sent via email to state newborn screening program leadership including program directors, lab directors, and/or follow-up coordinators as listed on the NewSTEPs website. In total, 17 responses were received for a 34% response rate for the 50 states with no duplicate state responses. Descriptive statistics were used to characterize the data and themes were elicited and tallied for open ended questions to categorize responses.
Results:
The results showed that the majority of states are not using NGS, nor are they ready to implement NGS soon. However, 33% of respondents indicated that plans exist to introduce NGS into the current workflow or add additional NGS testing. The study determined areas of greatest concern for implementing NGS, including availability of appropriate staff members, the cost of testing, and volume of samples being processed. Though staffing problems have been documented previously, our study specified that the staffing positions that are most needed include data analysts, bioinformatics support, and genetic counselors. Furthermore, the cost of testing and sequencing was identified as a key issue, with 92.8% of state lab respondents indicating that they were concerned about the cost of sequencing itself. According to respondents, most states have not received any significant budget increase in the past 5 years and for those that did, funding for staff, adding new RUSP conditions, and the cost of testing were prioritized for use of those funds. Additionally, challenges related to volume, both in terms of sample size and data storage, were noted. Some states suggested that the number of samples was too low to justify a run of NGS and was therefore not cost-effective. Finally, understanding the vision for how states will navigate implementing NGS moving forward is crucial, and our study shows that when deciding which genes to include on a panel using NGS, most programs indicated that RUSP-like guidance would be necessary for this type of decision making.
Conclusion:
This study underscores the crucial need for additional resources, particularly in staffing and funding, to successfully implement NGS into the NBS workflow. These findings show programs value being able to ensure accurate result interpretation, quality, and meaningful analysis of NGS data, though also require additional funds to consider adding NGS. Despite these hurdles, there is a notable willingness among state programs to explore the potential of NGS, highlighting the importance of continued dialogue and collaboration in advancing newborn screening practices for the benefit of infants and their families.
Newborn screening (NBS) programs are vital public health initiatives, facilitating early diagnosis and treatment for thousands of infants annually in the United States. Originally targeting phenylketonuria (PKU) in the 1960s, NBS has expanded to encompass a broad spectrum of disorders, aided by technological advancements such as tandem mass spectrometry and next-generation sequencing (NGS). NGS, in particular, offers the potential to revolutionize NBS and multiple ongoing research projects position NGS as a supplement to current screening techniques. While NGS presents numerous benefits, its integration into NBS faces various challenges, including technical / analytic feasibility, financial barriers, and logistical considerations. This study aimed to assess the barriers, expectations, and plans of state NBS programs regarding NGS integration, providing insights to guide advancements and inform stakeholders.
Methods:
Data was collected from October to December of 2023 through a 54-question survey sent via email to state newborn screening program leadership including program directors, lab directors, and/or follow-up coordinators as listed on the NewSTEPs website. In total, 17 responses were received for a 34% response rate for the 50 states with no duplicate state responses. Descriptive statistics were used to characterize the data and themes were elicited and tallied for open ended questions to categorize responses.
Results:
The results showed that the majority of states are not using NGS, nor are they ready to implement NGS soon. However, 33% of respondents indicated that plans exist to introduce NGS into the current workflow or add additional NGS testing. The study determined areas of greatest concern for implementing NGS, including availability of appropriate staff members, the cost of testing, and volume of samples being processed. Though staffing problems have been documented previously, our study specified that the staffing positions that are most needed include data analysts, bioinformatics support, and genetic counselors. Furthermore, the cost of testing and sequencing was identified as a key issue, with 92.8% of state lab respondents indicating that they were concerned about the cost of sequencing itself. According to respondents, most states have not received any significant budget increase in the past 5 years and for those that did, funding for staff, adding new RUSP conditions, and the cost of testing were prioritized for use of those funds. Additionally, challenges related to volume, both in terms of sample size and data storage, were noted. Some states suggested that the number of samples was too low to justify a run of NGS and was therefore not cost-effective. Finally, understanding the vision for how states will navigate implementing NGS moving forward is crucial, and our study shows that when deciding which genes to include on a panel using NGS, most programs indicated that RUSP-like guidance would be necessary for this type of decision making.
Conclusion:
This study underscores the crucial need for additional resources, particularly in staffing and funding, to successfully implement NGS into the NBS workflow. These findings show programs value being able to ensure accurate result interpretation, quality, and meaningful analysis of NGS data, though also require additional funds to consider adding NGS. Despite these hurdles, there is a notable willingness among state programs to explore the potential of NGS, highlighting the importance of continued dialogue and collaboration in advancing newborn screening practices for the benefit of infants and their families.