The impact of chromosomal microarray on clinical management: a retrospective analysis
Open accessAbstract
Purpose Chromosomal microarray has been widely adopted as the first-tier clinical test for individuals with multiple congenital anomalies, developmental delay, intellectual disability, and autism spectrum disorders. Although chromosomal microarray has been extensively shown to provide a higher diagnostic yield than conventional cytogenetic methods, some health insurers refuse to provide coverage for this test, claiming that it is experimental and does not affect patients' clinical management. Methods We retrospectively reviewed the electronic medical records of all patients who had abnormal chromosomal microarray findings reported by our laboratory over a 3-year period and quantified the management recommendations made in response to these results. Results Abnormal chromosomal microarray findings were reported for 12.7% of patients (227/1,780). For patients with clinical follow-up notes available, these results had management implications for 54.5% of patients in the entire abnormal cohort (102/187) and for 42.1% of patients referred for isolated neurodevelopmental disorders (16/38). Recommendations included pharmacological treatment, cancer-related screening or exclusion of screening, contraindications, and referrals for further evaluation. Conclusion These results empirically demonstrate the clinical utility of chromosomal microarray by providing evidence that management was directly affected for the majority of patients in our cohort with abnormal chromosomal microarray findings.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
When a clinical laboratory reports a variant as pathogenic, healthcare providers are highly likely to take that as actionable and to alter treatment or surveillance of a patient or remove such management in a genotype-negative family member.
“when the clinical laboratory reports a variant as pathogenic, the healthcare providers are highly likely to take that as 'actionable' and to alter the treatment or surveillance of a patient 25 or remove such management in a genotype-negative family member, based on that determination”
Cites
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
Copy-number variations associated with neuropsychiatric conditions
Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659 · see citing works
Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000962 · Cited by 474 · see citing works
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
Lee, C., Iafrate, A. J., & Brothman, A. R. (2007) · Nature Genetics · doi:10.1038/ng2092 · Cited by 388 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
Ashley, E. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.86 · Cited by 1,116 · see citing works
Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., Firth, H. V., Frazier, T., Hansen, R. L., Prock, L., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0554-6 · Cited by 695 · see citing works
Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0053-8 · Cited by 619 · see citing works
Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.29 · Cited by 105 · see citing works
Pathways from autism spectrum disorder diagnosis to genetic testing
Barton, K. S., Tabor, H. K., Starks, H., Garrison, N. A., Laurino, M., & Burke, W. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.166 · Cited by 48 · see citing works
Quo Vadis clinical genomics of ASD?
Tammimies, K., Falck-Ytter, T., & Bölte, S. (2016) · Autism · doi:10.1177/1362361316635798 · Cited by 5 · see citing works
- Authors
- Henderson, L. B., Applegate, C. D., Wohler, E., Sheridan, M. B., Hoover-Fong, J., & Batista, D. A. S.
- Affiliations
- Johns Hopkins University (US)
- Kennedy Krieger Institute (US)
- Corresponding author
- Batista, Denise A.S.
- ORCID
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2014-09
- Volume
- 16
- Issue
- 9
- Pages
- 657-664
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2078781148
- Cited by
- 71
- References
- 4
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 2 · 2023: 4 · 2022: 2 · 2021: 3 · 2020: 6 · 2019: 9 · 2018: 8 · 2017: 10 · 2016: 11 · 2015: 10 · 2014: 2
- FWCI
- 7.22
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of General Medical Sciences (T32GM007471)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD024061)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Keywords
- chromosomal microarray analysis, clinical management, management recommendations, neurodevelopmental disorders, developmental delay, intellectual disability, autism spectrum disorder, congenital malformations, health insurance coverage, pharmacotherapy, cancer screening, cytogenetic testing
- MeSH terms
- Child, Child, Preschool, Chromosomes, Human, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Male, Referral and Consultation, Retrospective Studies, Disease Management, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Early Detection of Cancer
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
