P552: The perception of disability in prenatal genetic screening and counseling: An ethical analysis of current practice
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.
Authors
- Kay Anderson
Institutions
- University of California, Berkeley (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102395
- Primary Topic
- Ethics and Legal Issues in Pediatric Healthcare
- Type
- article
- Field-Weighted Citation Impact
- 0.00