ArticleInternational journal of neonatal screening2022
Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs.
Article in International journal of neonatal screening, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.Frontiers in psychology · 2025Pooled it
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Pediatrician involvement in communicating positive newborn screening results for Krabbe disease: barriers, facilitators, and ideas for interventions.Orphanet journal of rare diseases · 2026Article
- 'If You Don't Fight for Yourself, No One Else Will': An In-Depth Interpretative Phenomenological Analysis of Rare Disorder Care Advocacy in Aotearoa New Zealand.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Article
- Navigating rare disorder healthcare in Aotearoa New Zealand: an interpretative phenomenological analysis.Frontiers in health services · 2026Article
- A population-representative survey on attitudes toward genomic newborn screening in Germany.Genetics in medicine open · 2026Article
- Tension between the need for certainty and numerous uncertainties-A focus group study on various perspectives on a potential genomic newborn screening program in Germany.Journal of genetic counseling · 2025Article
- Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.Journal of inherited metabolic disease · 2025Article
- A Qualitative Study on Engaged Families' Experiences with Long-Term Follow-Up Care in the Colorado/Wyoming Newborn Screening System.International journal of neonatal screening · 2024Article
- Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate.International journal of neonatal screening · 2024Article
- Becoming a Rare Disease Parent: An Interpretative Phenomenological Analysis of Parent-Caregivers' Postpartum Experiences.Qualitative health research · 2024Article
- Genetic counselors' perspectives on genomic screening of apparently healthy newborns in the United States.Genetics in medicine open · 2024Article
- Caregiving Interactions and Behaviors in the Care of Children with Rare Genetic or Undiagnosed Conditions.Journal of child and family studies · 2023Article
- NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.International journal of neonatal screening · 2023Article
- Shared Responsibility and Network Collaboration in Caregiving.Social networks · 2023Article
- The Editor's Choice for Issue 2, Volume 8.International journal of neonatal screening · 2023Article
- Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis.International journal of neonatal screening · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
With the expansion of newborn screening conditions globally and the increased use of genomic technologies for early detection, there is a need for ethically nuanced policies to guide the future integration of ever-more comprehensive genomics into population-based newborn screening programs. In the current paper, we consider the lived experiences of 169 family caregivers caring for 77 children with NBS-related conditions to identify lessons learned that can inform policy and practice related to population-based newborn screening using genomic technologies. Based on caregiver narratives obtained through in-depth interviews, we identify themes characterizing these families' diagnostic odyssey continuum, which fall within two domains: (1) medical management implications of a child diagnosed with an NBS-related condition and (2) psychological implications of a child diagnosed with an NBS-related condition. For Domain 1, family caregivers' experiences point to the need for educational resources for both health care professionals that serve children with NBS-related conditions and their families; empowerment programs for family caregivers; training for providers in patient-centered communication; and access to multi-disciplinary specialists. For Domain 2, caregivers' experiences suggest a need for access to continuous, long-term counseling resources; patient navigator resources; and peer support programs. These lessons learned can inform policy recommendations for the benefit of the child, the family, the healthcare system, and society.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.