Table 6.

Key points from review.

- Technical advances have driven changes in genomic diagnostics - CMA enables genome-wide detection of CNVs, including more efficient detection of atypical CNVs associated with recurrent CNV syndromes - NGS enables cost-efficient, high-throughput sequencing - Diagnosis often requires multiple technologies, either to detect different types of genetic variants, or to narrow the differential diagnosis - Panel-based testing has largely supplanted individual gene tests - Certain conditions require specialized testing and are not covered in exome sequencing, such as repeat-expansion disorders and imprinting disorders - Clinical care is moving toward a genotype-first approach - Interpretation of genetic data is imperfect; variants of unknown significance are common and pose challenges for genetic counseling - High-throughput evaluation can identify incidental and secondary variants outside the indication for testing - Pre- and post-test genetic counseling is critical - Clinical genome sequencing is emerging and is expected to further change genetic diagnostics as sequencing costs continue to decrease