Attitudes of genetic counselors toward array comparative genomic hybridization (array CGH) testing in a prenatal setting

Includes bibliographical references (leaves 51-60)Chromosomal imbalances, in which there is a resulting loss or gain of genetic material, are found in 1 out of every 230 newborns and are cited as the most recognized cause of developmental delay and/or mental retardation in children with congenital anomalies. Array Comparative Genomic Hybridization (array CGH) can detect chromosomal imbalances, aiso known as genetic copy number changes, throughout the genome at a higher resolution than traditional cytogenetic methods. Since it has the potential to provide automated, comprehensive, and sensitive results, array CGH technology has been recently applied to the prenatal diagnostic field despite the lack of official guidelines governing its use. Genetic counselors have a responsibility to offer the appropriate genetic testing options to their patients and their characteristics and attitudes toward testing options may influence patient health care. Therefore, the purpose of this quantitative study is to identify factors regarding genetic counselors' perceptions of the appropriateness of prenatal array CGH testing. Overall, this study found that both genetic counselor and patient characteristics influence genetic counselors' perceptions of appropriateness. Specifically, prenatal practice setting and no interest in personal use of prenatal array CGH testing are associated with lower appropriateness scores, whereas higher perceived knowledge of array CGH testing, decreasing patient anxiety, and providing more comprehensive care are associated with higher appropriateness scores. Additionally, 91% of genetic counselors indicated that it is very important to consider the possibility of finding a variant of uncertain significance when considering whether or not to discuss prenatal array CGH testing with a patient. As a promising diagnostic tool, prenatal array CGH testing will continue to be incorporated in patient care and therefore, the development of future guidelines and recommendations regarding its use will be imperative