Clinical utility of chromosomal microarray analysis.
OBJECTIVE
To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results.


METHODS
A total of 46,298 postnatal patients were tested by chromosomal microarray analysis for a variety of indications, most commonly intellectual disability/developmental delay, congenital anomalies, dysmorphic features, and neurobehavioral problems. The frequency of detection of abnormalities associated with actionable clinical features was tallied, and the rate of physician response to a subset of abnormal tests results was monitored.


RESULTS
A total of 2088 diagnoses were made of more than 100 different disorders that have specific clinical features that warrant follow-up. The detection rate for these conditions using high-resolution whole-genome microarrays was 5.4%, which translates to 35% of all clinically significant abnormal test results identified in our laboratory. In a subset of cases monitored for physician response, appropriate clinical action was taken more than 90% of the time as a direct result of the microarray finding.


CONCLUSIONS
The disorders diagnosed by chromosomal microarray analysis frequently have clinical features that need medical attention, and physicians respond to the diagnoses with specific clinical actions, thus arguing that microarray testing provides clinical utility for a significant number of patients tested.
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA. jay.ellison@perkinelmer.com
Jay W
JW
Ellison
J Britt
JB
Ravnan
Jill A
JA
Rosenfeld
S Annie
SA
Morton
Nicholas J
NJ
Neill
Marc S
MS
Williams
Jodi
J
Lewis
Beth S
BS
Torchia
Cathryn
C
Walker
Ryan N
RN
Traylor
Kimberly
K
Moles
Elizabeth
E
Miller
Jennifer
J
Lantz
Caitlin
C
Valentin
Sara L
SL
Minier
Kimberly
K
Leiser
Berkley R
BR
Powell
Timothy M
TM
Wilks
Lisa G
LG
Shaffer
D002648:Child; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D046228:Microarray Analysis; D010372:Pediatrics