ArticleFrontiers in public health2017
Whole-Genome Sequencing in Newborn Screening-Attitudes and Opinions of Bulgarian Pediatricians and Geneticists.
Article in Frontiers in public health, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Who and how we engage: A systemic mapping of stakeholder perspectives on genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.International journal of molecular sciences · 2026Article
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.Nature medicine · 2025Article
- "Jumping too far ahead": Australian healthcare professional, scientist, and policy maker perspectives on using genomics in newborn screening.European journal of human genetics : EJHG · 2025Article
- Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students.BMJ open · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Perception of genomic newborn screening among peripartum mothers.European journal of human genetics : EJHG · 2024Article
- Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.International journal of neonatal screening · 2024Article
- Genetic counselors' perspectives on genomic screening of apparently healthy newborns in the United States.Genetics in medicine open · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Current Status of Newborn Screening in Southeastern Europe.Frontiers in pediatrics · 2021Article
- Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe aim of this study was to assess the attitudes and opinions on the potential use of whole-genome sequencing (WGS) in conjunction with the traditional newborn screening (NBS). We conducted an online survey among pediatricians and geneticists from Bulgaria. The study was based on the concept of non-selective WGS for all newborns and analysis of all genes. RESULTS/
conclusionIn total, 120 out of 299 invited participants completed the survey, with an overall response rate of 40.1%. While half of the pediatricians surveyed supported population-based non-selective WGS in NBS, 65.2% of the geneticists expressed concerns. Most participants underlined that ethical issues were as important as medical ones and called for a stricter protection of affected individuals against any abuse of their personal data. Extensive genetic counseling and psychological support to families were mentioned as key elements in this potential activity. Nevertheless, both pediatricians and geneticists considered that NBS in Bulgaria could be further developed, with selective WGS being suggested as a potential option. While non-selective WGS for all newborns is not currently perceived as feasible, pediatricians and geneticists do believe that selective WGS could strengthen current NBS programs. Cross-border project collaborations may set the stage for generating experience and evidence on these complex issues.
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