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Newborn screening program practices in the United States: notification, research, and consent
Kenneth D Mandl1, Shlomit Feit, Cecilia Larson
1Children's Hospital Informatics Program, Division of Emergency Medicine, Children's Hospital, Boston, Massachusetts 02115, USA.
Pediatrics
|February 5, 2002
Summary
Practices for US newborn screening programs vary widely in result notification, research data use, and consent procedures. Standardizing these processes is crucial for patient privacy and advancing genomic research.
Area of Science:
- Genetics and Genomics
- Public Health
- Bioethics
Background:
- Newborn screening programs are vital for early detection of genetic disorders.
- Current practices in managing screening data, including notification and research use, lack standardization across the US.
Purpose of the Study:
- To define current practices among US newborn screening programs.
- To investigate procedures for result notification, data research, and parental consent.
Main Methods:
- A telephone survey was conducted with supervisors of all US newborn screening programs.
- Data collected covered notification protocols, data retention, research access, and consent procedures.
Main Results:
- Significant variation exists in how abnormal results are reported and tracked.
- Most programs retain residual blood samples, with few storing them without identifiers.
- Practices for parental consent and researcher access to aggregated data differ substantially.
Conclusions:
- US newborn screening programs exhibit wide variations in operational practices.
- The collective management of a nationwide genomic databank necessitates careful consideration of IT and genomic analysis for clinical care, public health, and research.
- Protecting individual privacy while enabling scientific progress is paramount.