The impact of chromosomal microarray on clinical management: A retrospective analysis

Lindsay B. Henderson, Carolyn D. Applegate, Elizabeth Wohler, Molly Sheridan, Julie E Hoover Fong, Denise Batista

Research output: Contribution to journalArticle

Abstract

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.Genet Med 16 9, 657-664.

Original languageEnglish (US)
Pages (from-to)657-664
Number of pages8
JournalGenetics in Medicine
Volume16
Issue number9
DOIs
StatePublished - Sep 11 2014

Fingerprint

Viverridae
Insurance Carriers
Electronic Health Records
Early Detection of Cancer
Cytogenetics
Intellectual Disability
Referral and Consultation
Pharmacology
Health
Therapeutics
Autism Spectrum Disorder
Neurodevelopmental Disorders

Keywords

  • autism
  • chromosomal microarray
  • clinical management
  • clinical utility
  • intellectual disability

ASJC Scopus subject areas

  • Genetics(clinical)
  • Medicine(all)

Cite this

The impact of chromosomal microarray on clinical management : A retrospective analysis. / Henderson, Lindsay B.; Applegate, Carolyn D.; Wohler, Elizabeth; Sheridan, Molly; Hoover Fong, Julie E; Batista, Denise.

In: Genetics in Medicine, Vol. 16, No. 9, 11.09.2014, p. 657-664.

Research output: Contribution to journalArticle

Henderson, Lindsay B. ; Applegate, Carolyn D. ; Wohler, Elizabeth ; Sheridan, Molly ; Hoover Fong, Julie E ; Batista, Denise. / The impact of chromosomal microarray on clinical management : A retrospective analysis. In: Genetics in Medicine. 2014 ; Vol. 16, No. 9. pp. 657-664.
@article{63427acd52da4358b4bfb9894ea78560,
title = "The impact of chromosomal microarray on clinical management: A retrospective analysis",
abstract = "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.Genet Med 16 9, 657-664.",
keywords = "autism, chromosomal microarray, clinical management, clinical utility, intellectual disability",
author = "Henderson, {Lindsay B.} and Applegate, {Carolyn D.} and Elizabeth Wohler and Molly Sheridan and {Hoover Fong}, {Julie E} and Denise Batista",
year = "2014",
month = "9",
day = "11",
doi = "10.1038/gim.2014.18",
language = "English (US)",
volume = "16",
pages = "657--664",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "9",

}

TY - JOUR

T1 - The impact of chromosomal microarray on clinical management

T2 - A retrospective analysis

AU - Henderson, Lindsay B.

AU - Applegate, Carolyn D.

AU - Wohler, Elizabeth

AU - Sheridan, Molly

AU - Hoover Fong, Julie E

AU - Batista, Denise

PY - 2014/9/11

Y1 - 2014/9/11

N2 - 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.Genet Med 16 9, 657-664.

AB - 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.Genet Med 16 9, 657-664.

KW - autism

KW - chromosomal microarray

KW - clinical management

KW - clinical utility

KW - intellectual disability

UR - http://www.scopus.com/inward/record.url?scp=84908102963&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84908102963&partnerID=8YFLogxK

U2 - 10.1038/gim.2014.18

DO - 10.1038/gim.2014.18

M3 - Article

C2 - 24625444

AN - SCOPUS:84908102963

VL - 16

SP - 657

EP - 664

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 9

ER -