2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The Effect of Newborn Genomic Screening on Downstream Health Care Utilization and Costs: Evidence from the BabySeq Project

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The study, "The Effect of Newborn Genomic Screening On Downstream Health Care Utilization and Costs: Evidence from the BabySeq Project," aimed to examine the impact of newborn genomic screening (nGS) on health care utilization and associated costs. The BabySeq Project, a randomized controlled trial, enrolled sick and healthy newborns and randomized them to either receive the results of conventional newborn screening alone or in addition to nGS results. Data were collected through medical records, family interviews, and parent surveys, and costs were assigned using fee schedules.<br /><br />Results from the 10-month period after result disclosure showed that nGS did not have a significant effect on downstream health care utilization and costs. While previous analyses at 3 months indicated increased utilization and spending in the nGS arm, there were no observable differences between arms over the longer 10-month period. The study also found that newborns with monogenic disease risks had higher costs compared to those without, but there was no statistically significant difference between the nGS arm and the control arm.<br /><br />The study acknowledges that ongoing work is needed to further understand the types and appropriateness of care provided for newborns with identified monogenic disease risks.<br /><br />The BabySeq Project is a part of the Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) Consortium, supported by NIH grants. Further information about the project and the ongoing second phase of the trial can be found for interested parties.<br /><br />In summary, newborn genomic screening did not result in significant changes in health care utilization and associated costs in the 10 months after result disclosure. However, further analysis is needed to better understand the care provided for newborns with identified monogenic disease risks.

Asset Subtitle

Presenting Author - Hadley S. Smith, PhD, MPSA; Co-Author - Pankaj Agrawal, MD, MSSc; Co-Author - Dmitry Dukhovny, MD, MPH; Co-Author - Casie Genetti, CGC; Co-Author - Ingrid A. Holm, MD, MPH; Co-Author - Amy L. McGuire, JD, PhD; Co-Author - Stacey Pereira, PhD; Co-Author - Ann C. Wu, MD, MPH; Co-Author - Alan H. Beggs, PhD; Co-Author - Robert C. Green, MD, MPH; Co-Author - Richard B. Parad, MD, MPH; Co-Author - Kurt D. Christensen, PhD;

Meta Tag

Ethical Legal and Social Issues

Exome sequencing

Policy Issues

Co-Author Pankaj Agrawal, MD, MSSc

Co-Author Dmitry Dukhovny, MD, MPH

Co-Author Casie Genetti, CGC

Co-Author Ingrid A. Holm, MD, MPH

Co-Author Amy L. McGuire, JD, PhD

Co-Author Stacey Pereira, PhD

Co-Author Ann C. Wu, MD, MPH

Co-Author Alan H. Beggs, PhD

Co-Author Robert C. Green, MD, MPH

Co-Author Richard B. Parad, MD, MPH

Co-Author Kurt D. Christensen, PhD

Presenting Author Hadley S. Smith, PhD, MPSA

Keywords

newborn genomic screening

health care utilization

costs

BabySeq Project

randomized controlled trial

conventional newborn screening

nGS results

medical records

family interviews

parent surveys