ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
"What does it mean?": uncertainties in understanding results of chromosomal microarray testing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 113 citations in OpenAlex.
- Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review.Prenatal diagnosis · 2020Pooled it
- A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.American journal of human genetics · 2020Trial
- Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients.Indian journal of pediatrics · 2026Article
- Using the stages of change model to develop an understanding of caregiver intent for family behavior change following pediatric testing for genetic obesity: A qualitative analysis.Obesity pillars · 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
- Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.Frontiers in medicine · 2024Article
- What matters to parents? A scoping review of parents' service experiences and needs regarding genetic testing for rare diseases.European journal of human genetics : EJHG · 2023Article
- Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.Open biology · 2023Article
- Priorities to Promote Participant Engagement in the Participant Engagement and Cancer Genome Sequencing (PE-CGS) Network.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Health literacy and digital health information-seeking behavior - a cross-sectional study among highly educated Swedes.BMC public health · 2022Article
- Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results.Prenatal diagnosis · 2022Article
- Delayed diagnosis and racial bias in children with genetic conditions.American journal of medical genetics. Part A · 2022Article
- A Framework for Promoting Diversity, Equity, and Inclusion in Genetics and Genomics Research.JAMA health forum · 2022Article
- Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics.Journal of community genetics · 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
- Patient Challenges and Needs in Comprehending Laboratory Test Results: Mixed Methods Study.Journal of medical Internet research · 2020Article
- Contributory factors to the evolution of the concept and practice of informed consent in clinical research: A narrative review.Contemporary clinical trials communications · 2020Review
- Patients' views on variants of uncertain significance across indications.Journal of community genetics · 2020Review
- Can Precision Medicine Actually Help People Like Me? African American and Hispanic Perspectives on the Benefits and Barriers of Precision Medicine.Ethnicity & disease · 2020Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
purposeThe increased sensitivity of chromosomal microarray (CMA) technology as compared with traditional cytogenetic analysis allows for improved detection of genomic alterations. However, there is potential for uncertainty in the interpretation of test results in some cases. This paper explores how families understand and make meaning of CMA test results, and identifies the needs of families undergoing CMA testing.
methodsWe conducted semistructured interviews with parents of 25 pediatric outpatients with CMA test results indicating either a pathogenic alteration or a variant of unknown significance (VUS). Interviews were analyzed qualitatively.
resultsThree domains of understanding were identified: comprehension of results, interpretations of scientific uncertainty, and personal meaning for the child and family. Incomplete comprehension of test results and scientific uncertainty were prominent themes for families receiving results in both the VUS and pathogenic categories. Receiving results from non-geneticists and by telephone, long waits to see a geneticist, and misleading Internet searches all contributed to misunderstandings.
conclusionDifferentiating domains of understanding allows for the identification of uncertainties that can be reduced or managed in order to improve understanding of CMA results. Using this framework, we suggest interventions to promote clarity and address the informational needs of families undergoing CMA testing.
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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.