A paper describing the detection of copy number variants in autism spectrum disorder noted that the genetic test at issue, array comparative genomic hybridization, was quickly becoming routine in clinical practice, even though the lack of diagnostic certainty arising from test results caused many insurance providers to label the test investigational [B-7, Shutske]. Similar challenges arise with prenatal microarray testing, which is newly available clinically and has recently been recommended by the American College of Obstetricians and Gynecologists for use in prenatal diagnosis when abnormal anatomic findings on prenatal imaging are accompanied by a normal karyotype. Perhaps unsurprisingly, microarray testing itself often provides uncertain results [E-7, Bernhardt]. Uncertainty also played a significant role in papers addressing how cancer genetic risk assessment and cancer pharmacogenomics are viewed by stakeholders outside academic medical centers, for whom advanced diagnostics are newly accessible [D-7].
