Genomics and Newborn Screening: Perspectives of Public Health Programs

International Journal of Neonatal Screening

Dalton Simancek¹  Beth A. Tarini²  Aaron J. Goldenberg³  Roselle Ponsaran³  Amy Gaviglio⁴ 

[1] Child Health Evaluation & Research (CHEAR) Unit, Division of General Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA;Children’s Research Institute, Children’s National Health System, Washington, DC 20012, USA;Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA;G2S Corporation/CDC Newborn Screening and Molecular Biology Branch, Atlanta, GA 30341, USA;

关键词: newborn screening;    genomic testing;    next generation genomic sequencing;   

DOI  :  10.3390/ijns8010011

来源: DOAJ

【 摘 要 】

This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014–March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic procedures, and screening for a wider spectrum of disorders. Challenges included the costs of genomics, the ability to educate parents and health care providers about results, and the potential negative psychosocial impact of genomic information. Attempts to address the challenges of integrating genomics must focus on preserving the child welfare goals of NBS programs. Health departments will need to explore how genomics could be used to enhance programs while maintaining universal access to screening.

【 授权许可】

Unknown