How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay.
OBJECTIVE
Array comparative genomic hybridization is an emerging test used clinically to identify the etiology of children with developmental delay, yet little data are available regarding how physicians use these results. This pilot study evaluated how positive test results were used to influence patient management.


METHODS
We surveyed 14 physicians of 48 patients who had copy number changes detected by microarray technology.


RESULTS
Of 48 patients, 34 (70.8%) had 65 management changes after receiving the test result (with individual patients having 1-3 changes). Most commonly, physicians provided patients' families with a recurrence risk for affected subsequent pregnancies (35% of patients). Patients avoided other forms of testing (35%) and had improved access to services (25%). In 27% of patients, physicians altered medical management by referring patients to a specialist or recommending medical screening. Patients with known syndromes had multiple changes, but patients with novel copy number changes also had recommendations made based on the array result.


CONCLUSIONS
Overall, physicians reported making changes in management among most patients with positive test results, in ways similar to abnormalities detected by conventional cytogenetics. Our study demonstrates that this testing, in our clinical setting, is affecting management of children with developmental delay.
Saam
Jennifer
J
University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah, USA.
Gudgeon
Jim
J
Aston
Emily
E
Brothman
Arthur R
AR
D002648:Child; D002658:Developmental Disabilities / Q000235:genetics* / Q000628:therapy*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D010818:Practice Patterns, Physicians'