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.

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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
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article

P552: The perception of disability in prenatal genetic screening and counseling: An ethical analysis of current practice

Kay Anderson
Genetics in Medicine Open
Ethics and Legal Issues in Pediatric Healthcare
article

P552: The perception of disability in prenatal genetic screening and counseling: An ethical analysis of current practice

Kay Anderson
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
University of California, Berkeley (US)
Openalex Percentile: Top 93%
Ethics and Legal Issues in Pediatric Healthcare
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