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Published on: August 17, 2022
Assuring clinical genetic services for newborns identified through U.S. newborn screening programs
Celia I Kaye1, Judith Livingston, Mark A Canfield
1Office of Education, University of Colorado School of Medicine, Denver, Colorado, USA.
Summary
Most U.S. newborn screening programs do not track clinical genetic services for infants identified with genetic disorders. Improving data collection on genetic counseling is recommended for better newborn and family care.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Newborn screening (NBS) identifies infants with genetic disorders.
- Access to clinical genetic services is crucial for managing these conditions.
- Current documentation practices for these services are not well understood.
Purpose of the Study:
- To assess if U.S. newborn screening and genetics programs systematically document the receipt of clinical genetic services by infants and families identified through NBS.
- To evaluate the current tracking mechanisms for genetic services following newborn screening.
Main Methods:
- Review of 19 state genetic plans.
- Administration of a 30-question survey to 53 respondents, including state NBS and genetics program coordinators from 36 states.
- Inclusion of principal investigators from 5 regional genetic and NBS collaboratives.
Main Results:
- No state NBS or genetics programs routinely tracked patient-level data on clinical genetic services for all screened conditions.
- Few programs systematically reported on whether patients were referred for or received genetic counseling.
- Significant gaps exist in documenting the delivery of essential genetic services post-newborn screening.
Conclusions:
- Systematic tracking of clinical genetic services for newborns identified via NBS is feasible and recommended.
- National guidelines support tracking genetic counseling in NBS follow-up.
- Enhancing communication with subspecialists can improve data collection on genetic services for improved newborn and family outcomes.
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