ArticleEuropean journal of human genetics : EJHG2023
What matters to parents? A scoping review of parents' service experiences and needs regarding genetic testing for rare diseases.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 15 citations in OpenAlex.
- Enhancing Parents' Experiences of Paediatric Genomic Testing in Usual Outpatient Care: Insights From a Multi-Perspective Qualitative Study.Journal of paediatrics and child health · 2026Article
- Lived experiences of parents of children with genetic and neurodevelopmental disorders accessing genetic services in Rwanda: barriers and enablers.Journal of community genetics · 2026Article
- Parent/caregiver needs during pediatric genome-wide sequencing: A scoping literature review.Journal of genetic counseling · 2026Article
- Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing.European journal of human genetics : EJHG · 2026Article
- "Listening to the word autism changes everything": the impact of an Autism Spectrum disorder diagnosis on families.Frontiers in psychology · 2026Article
- Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.Genetics in medicine open · 2026Article
- "Nobody listened to us for years": Parents' experiences of provider communication in the diagnostic odyssey.Molecular genetics and metabolism · 2025Article
- Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.Annals of medicine · 2025Article
- "It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.European journal of human genetics : EJHG · 2025Article
- Putting control into parents' hands: Parent experiences with a genomic results e-booklet.Journal of genetic counseling · 2025Article
- Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: "It's the more negative ones that you remember".Journal of genetic counseling · 2025Article
- Parental attitudes and experiences in pursuing genetic testing for their child's motor speech disorder.European journal of human genetics : EJHG · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.Kidney international reports · 2024Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patient care experiences are key to promoting better outcomes and are an essential consideration for successful implementation of genomics in paediatric care. To understand parents' service experiences and needs regarding testing of their child for rare diseases, we conducted a scoping review. Five databases were searched (2000-2022), with 29 studies meeting the inclusion criteria. Experiences of care wholly delivered by genetic services were most commonly reported (n = 11). Results were synthesised by mapping extracted data to adapted Picker principles of person-centred care. Parents especially valued and emphasised the importance of feeling 'cared for', continuous relationships with clinicians, empathic communication, being kept informed while awaiting genetic test results, linkage with informational and psychosocial resources following results disclosure, and follow-up. Strategies were often proposed by authors to address long-standing unmet needs but evidence from the literature regarding their potential effectiveness was rarely provided. We conclude that 'what matters' to parents regarding genetic testing is not dissimilar to other aspects of care. Paediatric medical specialists have existing skill sets, trusted relationships and can apply familiar principles of 'good' care to enhance experiences of genetic testing. The lack of evidence for service improvement strategies highlights the pressing need to undertake rigorous design and testing of interventions alongside mainstreaming of genomics into paediatric care.
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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.