Relevance where it matters
Mar 13, 2018

This March, we introduced 157 updated panels and 21 new ones. With the updated assay, we transitioned to a new production platform where all the panels are based on custom high-quality WES data. The new assay competes against high-quality whole genome sequencing in diagnostic performance without providing a high number of VUSes (from the non-coding regions).

Genes are not just exons (15% of disease causing variants are within introns – deep-intronic, non-coding variants). Almost 1 500 disease-causing deep intronic variants are included in our updated panels.

Our customers have had a significant influence in making our panels comprehensive and clinically relevant.

The fact is that we are now able to contribute even more to the clinical community, that aims to provide a diagnosis for patients with rare inherited diseases. This is relevance where it matters and that’s why we have been working towards pushing our quality as high as possible. Our numbers show a better coverage of clinically relevant genes, even difficult to sequence genes, which ensures a higher diagnostic yield.

Our customers have had a significant influence in making our panels comprehensive and clinically relevant. In February, we got a request to add CDH2 (cadherin 2) gene to to the ARVC Panel. In the same day, this information was forwarded to the Blueprint R&D team who went through the existing validation data for CDH2 (sequencing coverage, mapping qualities, sensitivity, specificity etc) and interpretation team who evaluated the literature and mutation profile. Within 24 hours, the gene was added into the panel. This is just one example reflecting the flexibility and outstanding teamwork at Blueprint as well as the extensive validation we have in place for all genes in the human genome.

A big thanks goes to our team at Blueprint Genetics and especially the geneticists who have been pushing themselves to provide best-possible variant interpretation to our clients. It’s been a fast-paced start of 2018, but it has been worth it! See our updated panels here.

Juha Koskenvuo
Chief Medical Officer and Laboratory Director, Blueprint Genetics

Last modified: 12.11.2018