Document Detail

Chromosomal Microarray Impacts Clinical Management.
MedLine Citation:
PMID:  23347240     Owner:  NLM     Status:  Publisher    
Chromosomal microarray analysis (CMA) is standard of care, first-tier clinical testing for detection of genomic copy number variation (CNV) among patients with developmental disabilities. Although diagnostic yield is higher than traditional cytogenetic testing, management impact has not been well studied. We surveyed genetic services providers regarding CMA ordering practices and perceptions about reimbursement. Lack of insurance coverage due to perceived lack of clinical utility was cited amongst the most frequent reasons why CMA was not ordered when warranted. We compiled a list of genomic regions where haploinsufficiency or triplosensitivity cause genetic conditions with documented management recommendations, estimating that at least 146 conditions potentially diagnosable by CMA testing have published literature supporting specific clinical management implications. Comparison to an existing clinical CMA database to determine the proportion of cases involving these regions showed that CMA diagnoses associated with such recommendations are found in approximately 7% of all cases (n=28,526). We conclude that CMA impacts clinical management at a rate similar to other genetic tests for which insurance coverage is more readily approved. The information presented here can be used to address barriers that continue to contribute to inequities in patient access and care in regards to CMA testing.
Erin Rooney Riggs; Karen E Wain; Darlene Riethmaier; Bethanny Smith- Packard; W Andrew Faucett; Nicole Hoppman; Erik C Thorland; Viren C Patel; David T Miller
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-25
Journal Detail:
Title:  Clinical genetics     Volume:  -     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 John Wiley & Sons A/S.
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Viral transduction of the neonatal brain delivers controllable genetic mosaicism for visualising and...
Next Document:  What goes up must come down! A primary care approach to preventing injuries amongst highflying cheer...