Sequencing is still one of the major steps where genetic diagnostics can go wrong. Despite all the breakthroughs during the past decade, the sequencing technologies available are still providing results that are far from perfect. The limitations of sequencing technologies are still one hurdle in applying genomics to everyday medicine. In a recent publication [March 2016] by Rachel Goldfeder et al (PubMed: 26932475, http://www.ncbi.nlm.nih.gov/pubmed/26932475), the authors report significant sequencing errors associated with today’s whole exome (WES) and whole genome sequencing (WGS). These errors can lead to inappropriate patient management and worse outcome. Today’s next-generation sequencing (NGS) strategies are still failing to cover regions that are hard to sequence, and a large proportion of human disease-associated genes are not covered perfectly in these analyses.
These technological limitations have been one of the driving forces at Blueprint Genetics. With our technological innovations, one of our missions has been to develop genetic diagnostic platforms where sequencing quality is approaching perfection. Our OS-Seq technology provides uniform deep sequencing from the whole target region, which is the cornerstone for all NGS panels in our company’s portfolio. In addition to OS-Seq technology, our offering is now fulfilled by an in-house developed, clinical grade WGS-based deletion/duplication test. It provides highest accuracy for detecting deletions and duplications on a wide scale.
Note added October 2020: This article reflects our experience of the state of genetic technology as of the date it was published, but it still reflects much of our thinking on the subject.