Abstract
Array-based comparative genomic hybridization (aCGH) has become an increasingly frequent genomic screen in clinical practice. Challenges posed by aCGH testing include the possibility of results of uncertain significance and limited predictive clinical information. These challenges are particularly significant in the prenatal setting where aCGH results may affect pregnancy management, including decisions regarding termination. Previous studies have proposed approaches to result interpretation and thorough pre-test counseling from the perspective of genetic counselors affiliated with aCGH testing labs. The purpose of this study was to explore aCGH practices in detail, with particular emphasis on the experiences and views of genetic counselors regarding the use of this technology in a prenatal setting. We interviewed nine prenatal and pediatric genetic counselors who practice in the United States and who work for academic hospitals, private clinics and aCGH testing labs. The semi-structured interviews consisted of 22 open-ended questions focused on the current practices and opinions of counselors experienced in offering aCGH. The interview transcripts were coded using ATLAS.ti software. Results showed a lack of uniformity in practice and diverse opinions regarding appropriate indications for offering aCGH to patients. Counselors raised many concerns based on their experiences with offering aCGH in pediatrics, including the frequency of results of uncertain significance and situations in which testing resulted in unanticipated and/or pre-symptomatic diagnosis. Counselors’ responses revealed no clear consensus regarding whether or not aCGH testing should be offered routinely in prenatal settings, but study participants were in agreement that there is a need for standardized implementation and practice guidelines. The results of our qualitative pilot study highlight the challenges of reaching a consensus about appropriate prenatal aCGH practices and suggest a need for additional studies to assess genetic counselors’ experiences and comfort levels with prenatal aCGH testing.