Genomic Newborn Screening in Public Health: Ethical, Legal, Social, and Psychological Perspectives
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: 31 March 2027 | Viewed by 536
Editors
2. Pediatrics Department, Harvard Medical School, Boston, MA 02115, USA
3. Harvard Medical School Center for Bioethics, Harvard Medical School, Boston, MA 02115, USA
Interests: bioethics; rare diseases; ethical and psychosocial aspects of genomics; newborn screening; newborn sequencing; prenatal diagnosis and screening; the diagnostic odyssey continuum; the developmental continuum; pediatric innovative therapies; fetal therapies; inborn errors of metabolism; neurodevelopmental disorders; pediatric clinical genomics; clinical ethics; research ethics; equity and fairness
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2. Gillette Children’s Hospital, Saint Paul, MN 55101, USA
Interests: public health implementation and performance; ethics; communication and engagement; use of AI/ML in public health
Special Issues, Collections and Topics in MDPI journals
2. Department of Paediatrics, Child & Youth Health, University of Auckland, Auckland, New Zealand
Interests: newborn screening; metabolic disease; pacific genetic disease
Special Issue Information
Dear Colleagues,
In appreciation of the importance for critically considering ethical, legal, social, and psychological issues (ELSI+P), and in recognition of the robust acceleration in the development of genomic Newborn Screening (gNBS) programs around the globe since the first IJNS Special Issue on Ethical and Psychosocial Aspects of Genomics in the Neonatal Period (articles were 2021–early 2024), the International Society of Neonatal Screening has now endorsed a new IJNS Special Issue centered on ELSI+P gNBS considerations in the context of Public Health (PH).
We welcome scholarly contributions across a wide range of perspectives regarding potential opportunities, challenges, and lessons learned when integrating genomics in population-based NBS. The scope of manuscripts that may be submitted for the peer-reviewed process is broad for this IJNS Special Issue “Genomic Newborn Screening in Public Health: Ethical, Legal, Social, and Psychological Perspectives” and can include substantive empirical research (quantitative, qualitative, or mixed methodologies), literature reviews, commentaries, reports of innovative approaches to assess or improve aspects relevant to our focus (i.e., education, counseling, consenting, psychological, etc.), as well as international, regional, and cultural comparative pieces.
While not an exhaustive list, some themes of interest involving gNBS in the PH setting include the following:
- Follow-up beyond the newborn’s screening risk detection (who, when, where, what, how long);
- Secondary and incidental findings;
- Variable phenotypes;
- Uncertain prognosis, including age of onset;
- Uncertain or unknown genotype–phenotype correlation;
- Adult-onset conditions, including those with and without disease altering treatments in childhood;
- Best interests of the child/harm principal;
- The rights of the unidentified ‘at risk’ child;
- Public consultation regarding the implementation of gNBS;
- Cultural considerations and consultation;
- Consideration of Ethnicity disease incidence variability;
- Family interests/perspectives;
- Societal and resource allocation issues;
- Identifying carrier status in newborns;
- Financial/reimbursement issues for gNBS, diagnosis, therapy, and/or monitoring and management;
- Informed consent processes and considerations for a public health initiative;
- Consideration around equity, including risk identification with a population not yet adequately reflected in variant databases;
- Equity of access to post-screening diagnosis and or treatment;
- Blurring health, illness, disability, normalcy, and rarity;
- Diagnostic odyssey;
- Potential over-medicalization of patients;
- Genomic information privacy and public trust;
- Sequencing to inform management, including new genetic therapies.
Dr. Lynn Wein Bush
Amy Gaviglio
Dr. Callum Wilson
Guest Editors
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- genomic newborn screening
- public health newborn genomics
- public health neonatal sequencing
- neonatal genomics
- public health newborn sequencing
- newborn genomic screening
- newborn screening genomics
- incidental findings
- secondary findings
- carrier status
- best interest of the child
- adult onset
- uncertainty
- variable phenotype
- bioethics
- ELSI
- psychosocial
- psychological
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