ArticleClinical genetics2013
Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.
Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Pooled it
- Prenatal genomic sequencing: Navigating uncertainty.Seminars in perinatology · 2025Review
- Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.PloS one · 2025Article
- Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.Orphanet journal of rare diseases · 2024Article
- An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.Nature communications · 2022Article
- Pediatric Oncologists' Experiences Returning and Incorporating Genomic Sequencing Results into Cancer Care.Journal of personalized medicine · 2021Article
- Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.Journal of genetic counseling · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care.European journal of human genetics : EJHG · 2019Article
- Paediatricians underuse recommended genetic tests in children with global developmental delay.Paediatrics & child health · 2018Article
- A review of consent practices and perspectives for pharmacogenetic testing.Pharmacogenomics · 2016Review
- Are physicians prepared for whole genome sequencing? a qualitative analysis.Clinical genetics · 2016Article
- Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice.European journal of human genetics : EJHG · 2016Article
- What Do Parents Think about Chromosomal Microarray Testing? A Qualitative Report from Parents of Children with Autism Spectrum Disorders.Autism research and treatment · 2016Article
- Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders.Journal of autism and developmental disorders · 2015Article
- Article
- To disclose, or not to disclose? Context matters.European journal of human genetics : EJHG · 2015Article
- Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders.Global pediatric health · 2015Article
- Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders.Current genetic medicine reports · 2014Article
- Three clinical experiences with SNP array results consistent with parental incest: a narrative with lessons learned.Journal of genetic counseling · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Chromosomal microarray analysis (CMA) has improved the diagnostic rate of genomic disorders in pediatric populations, but can produce uncertain and unexpected findings. This article explores clinicians' perspectives and identifies challenges in effectively interpreting results and communicating with families about CMA. Responses to an online survey were obtained from 40 clinicians who had ordered CMA. Content included practice characteristics and perceptions, and queries about a hypothetical case involving uncertain and incidental findings. Data were analyzed using nonparametric statistical tests. Clinicians' comfort levels differed significantly for explaining uncertain, abnormal, and normal CMA results, with lowest levels for uncertain results. Despite clinical guidelines recommending informed consent, many clinicians did not consider it pertinent to discuss the potential for CMA to reveal information concerning biological parentage or predisposition to late-onset disease, in a hypothetical case. Many non-genetics professionals ordering CMA did not feel equipped to interpret the results for patients, and articulated needs for education and access to genetics professionals. This exploratory study highlights key challenges in the practice of genomic medicine, and identifies needs for education, disseminated practice guidelines, and access to genetics professionals, especially when dealing with uncertain or unexpected findings.
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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.