Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families


  • The authors declare no conflict of interest with respect to the manuscript.

Corresponding author: Marian Reiff, PhD, Center for the Integration of Genetic Health Care Technologies, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Penn Tower Room 1112, 399 South 34th Street, Philadelphia, PA 19104, USA.

Tel: 1215 614 0931;

Fax: 1215 615 5315



Chromosomal microarray analysis (CMA) has improved the diagnostic rate of genomic disorders in pediatric populations, but can produce uncertain and unexpected findings. This article explores clinicians' perspectives and identifies challenges in effectively interpreting results and communicating with families about CMA. Responses to an online survey were obtained from 40 clinicians who had ordered CMA. Content included practice characteristics and perceptions, and queries about a hypothetical case involving uncertain and incidental findings. Data were analyzed using nonparametric statistical tests. Clinicians' comfort levels differed significantly for explaining uncertain, abnormal, and normal CMA results, with lowest levels for uncertain results. Despite clinical guidelines recommending informed consent, many clinicians did not consider it pertinent to discuss the potential for CMA to reveal information concerning biological parentage or predisposition to late-onset disease, in a hypothetical case. Many non-genetics professionals ordering CMA did not feel equipped to interpret the results for patients, and articulated needs for education and access to genetics professionals. This exploratory study highlights key challenges in the practice of genomic medicine, and identifies needs for education, disseminated practice guidelines, and access to genetics professionals, especially when dealing with uncertain or unexpected findings.