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

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.     

fMRI investigation of the cognitive structure of the Concealed Information Test

We studied the cognitive basis of the functional magnetic resonance imaging (fMRI) pattern of deception in three participants performing the Concealed Information Test (CIT). In all participants, the prefrontoparietal lie activation was similar to the pattern derived from the meta-analysis (N?=?40) of our previously reported fMRI CIT studies and was unchanged when the lie response was replaced with passive viewing of the target items. When lies were replaced with irrelevant responses, only the left inferior gyrus activation was common to all subjects. This study presents a systematic strategy for testing the cognitive basis of deception models, and a qualitative approach to single-subject truth-verification fMRI tests.