Genomics and Newborn Screening: Perspectives of Public Health Programs
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 th...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/8/1/11 |
| _version_ | 1827648552995651584 |
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| author | Aaron J. Goldenberg Roselle Ponsaran Amy Gaviglio Dalton Simancek Beth A. Tarini |
| author_facet | Aaron J. Goldenberg Roselle Ponsaran Amy Gaviglio Dalton Simancek Beth A. Tarini |
| author_sort | Aaron J. Goldenberg |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T19:40:49Z |
| format | Article |
| id | doaj.art-d20cba0c43504953ac7675516a8efafd |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-09T19:40:49Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-d20cba0c43504953ac7675516a8efafd2023-11-24T01:39:36ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2022-01-01811110.3390/ijns8010011Genomics and Newborn Screening: Perspectives of Public Health ProgramsAaron J. Goldenberg0Roselle Ponsaran1Amy Gaviglio2Dalton Simancek3Beth A. Tarini4Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USADepartment of Bioethics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USAG2S Corporation/CDC Newborn Screening and Molecular Biology Branch, Atlanta, GA 30341, USAChild Health Evaluation & Research (CHEAR) Unit, Division of General Pediatrics, University of Michigan, Ann Arbor, MI 48109, USAChildren’s Research Institute, Children’s National Health System, Washington, DC 20012, USAThis 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.https://www.mdpi.com/2409-515X/8/1/11newborn screeninggenomic testingnext generation genomic sequencing |
| spellingShingle | Aaron J. Goldenberg Roselle Ponsaran Amy Gaviglio Dalton Simancek Beth A. Tarini Genomics and Newborn Screening: Perspectives of Public Health Programs International Journal of Neonatal Screening newborn screening genomic testing next generation genomic sequencing |
| title | Genomics and Newborn Screening: Perspectives of Public Health Programs |
| title_full | Genomics and Newborn Screening: Perspectives of Public Health Programs |
| title_fullStr | Genomics and Newborn Screening: Perspectives of Public Health Programs |
| title_full_unstemmed | Genomics and Newborn Screening: Perspectives of Public Health Programs |
| title_short | Genomics and Newborn Screening: Perspectives of Public Health Programs |
| title_sort | genomics and newborn screening perspectives of public health programs |
| topic | newborn screening genomic testing next generation genomic sequencing |
| url | https://www.mdpi.com/2409-515X/8/1/11 |
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