ArticleAmerican journal of medical genetics. Part A2022
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 32 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
32 citing papers in PubMed, 3 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Experiences with diagnostic delay among underserved racial and ethnic patients: a systematic review of the qualitative literature.BMJ quality & safety · 2025Pooled it
- Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.JAMA network open · 2023Pooled it
- Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants: A Systematic Review.JAMA network open · 2022Pooled it
- Parental experience of whole genome sequencing for children with sensorineural hearing loss.International journal of qualitative studies on health and well-being · 2026Article
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Parent/caregiver needs during pediatric genome-wide sequencing: A scoping literature review.Journal of genetic counseling · 2026Article
- Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions.Journal of medical genetics · 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
- According to Which Criteria Should the Undiagnosed Diseases Network's Value Be Assessed?AMA journal of ethics · 2025Article
- Article
- Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation.Applied health economics and health policy · 2025Article
- Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation.European journal of human genetics : EJHG · 2024Article
- Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population.HGG advances · 2024Article
- Parents' attitudes towards research involving genome sequencing of their healthy children: a qualitative study.European journal of human genetics : EJHG · 2024Article
- "I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.The Journal of pediatrics · 2023Article
- Beyond the exome: What's next in diagnostic testing for Mendelian conditions.American journal of human genetics · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Given the limited therapeutic options for most rare diseases diagnosed through genomic sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is important to characterize a broader range of benefits and potential harms of GS from the perspectives of families with diverse sociodemographic characteristics. We recruited parents of children enrolled in the Undiagnosed Diseases Network. Parents completed an in-depth interview, and we conducted a comparative content analysis of the data. Parents (n = 30) were demographically diverse, with 43.3% identifying as Hispanic, 33.3% primarily Spanish-speaking, and widely variable household income and education. Parents reported minimal changes in their child's health status following GS but did report a range of other forms of perceived utility, including improvements in their child's healthcare management and access, in their own psychological well-being, and in disease-specific social connections and research opportunities. Parents who received a diagnosis more frequently perceived utility across all domains; however, disutility also was reported by both those with and without a diagnosis. Impacts depended on multiple mediating factors, including parents' underlying expectations and beliefs, family sociodemographic characteristics, individual disease characteristics, and prior healthcare access. Our study suggests that the perceived utility of GS varies widely among parents and may depend on multiple individual, sociodemographic, and contextual factors that are relevant for pre- and post-GS counseling, for value assessment of GS, and for policymaking related to access to new genomic technologies.
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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.