Blueprint Genetics – Ready for 2014!

Published on December 9, 2013

In June 2013 Blueprint Genetics launched 10 comprehensive diagnostic NGS panels for hereditary cardiovascular diseases. Since then hundreds of clinical samples have been successfully analyzed and interpreted. Thanks to our proprietary sequencing technology (OS-Seq) and bioinformatics pipeline we have been able to increase the quality of analysis, lower the costs of genetic diagnostics and decrease the turn-around-time to 21 days. Subsequently, over 30 hospitals and clinics from Europe and Canada have ordered genetic testing for their patients and family members. Based on the positive feedback and repurchase rates we are encouraged that we are on the right track in developing our genetic diagnostics service into a new level. We are also happy that the clinical statements provided by our team of geneticists and cardiologists have received excellent reviews from our customers worldwide.

Blueprint Genetics is highly motivated in supporting the development of the field of hereditary cardiovascular diseases. A crucial component in this process involves sharing of obtained variant data in public databases such as ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) and other existing databases. ClinVar is developed by the US National Institutes of Health (NIH) National Center for Biotechnology Information (NCBI) in Bethesda, Maryland. Broad and open sharing of identified variants and mutations is essential when improving interpretations of identified variants and will ultimately advance the clinical assessment of our patients (http://www.nature.com/news/one-stop-shop-for-disease-genes-1.11747). We are highly committed in supporting any existing patient registries and ongoing clinical research, which includes diagnostics at Blueprint Genetics. Comprehensive technical information from the sequence analysis will soon be incorporated into our statements. We believe this service gives the customer full and open access to all details involved in the analysis.

As one of our missions is to expand our innovations and technology into other areas of medicine, we are constantly developing new diagnostic tools. On December 9th 2013, Blueprint Genetics is launching a new set of diagnostic panels and gene tests. These are the Heart Panel, Marfan Panel, Emery-Dreifuss Muscular Dystrophy Panel and a specific gene test for GM1 gangliosidosis. In line with our other diagnostic panels, we target the sequencing to all protein coding exons, exon-intron boundaries and other regions with reported disease associated variants and mutations.

Heart Panel: The BpG Heart Panel is a comprehensive diagnostic test covering genetics of hereditary cardiomyopathies and channelopathies. It combines the BpG Pan Cardiomyopathy and Arrhythmia Panels (128 genes). This panel can be an efficient genetic diagnostic tool in differential diagnostics of classical cardiomyopathies and channelopathies. In our piloting phase this panel has been successfully used in cases where patients’ phenotype and family history have presented features of both cardiomyopathies and channelopathies. Differential diagnostics between ion channel disease and cardiomyopathies may be challenging as severe ventricular arrhythmias can occur in cardiomyopathy patients with subclinical or no detectable manifestation of cardiomyopathy. In addition to complex clinical situations, the BpG Heart Panel can be employed in forensics when evaluating patients with suspicion of sudden cardiac death with minimal cardiac findings in autopsy. Although we have good experiences in using extensive gene panels in clinical evaluation, we recommend to use our phenotype specific panels if the patient has a clear clinical suspicion of a certain disease entity. The Heart Panel is an attractive research tool when genetic profiling of large cardiomyopathy, arrhythmia or heart failure patient cohorts is needed. Researchers are currently utilizing this panel in a large cardiomyopathy cohort to cost-effectively identify patient subgroups for discovery oriented sequencing (whole exome or whole genome sequencing).

Marfan Panel: The BpG Marfan Panel is a rapid and cost-effective diagnostic and differential diagnostic tool for patients manifesting a connective-tissue disorder with phenotypic features of Marfan syndrome or congenital contractural arachnodactyly, Loeys-Dietz syndrome, Ehlers-Danlos syndrome type IV (vascular form) and arterial tortuosity syndrome. Moreover, Shprintzen-Goldberg syndrome associated gene SKI will be on the panel after update in January 2014. The diagnostics of these disorders can be challenging as there is significant phenotypic overlap, many of the features are present in the normal population, features appear in an age-dependent manner and there is substantial phenotypic variability between affected individuals. If the patient has an isolated aortic aneurysm with no other Marfan-like organ manifestations, we recommend using the BpG Aorta Panel, which covers all syndromic and non-syndromic forms of aortic aneurysm diseases.

Emery-Dreifuss Muscular Dystrophy Panel: We offer now the most comprehensive Emery-Dreifuss muscular dystrophy gene test on the market covering all known genetics behind this severe muscular dystrophy. Emery-Dreifuss muscular dystrophy (EDMD) is a condition that affects mainly skeletal muscle and the heart. Typically it presents in early childhood with contractures and majority of the patients experience slowly progressive muscle weakness and wasting. The six genes included in this panel are: LMNA, EMD, SYNE1, SYNE2, FHL1 and TMEM43.

GM1 Gangliosidosis Test: GM1 gangliosidosis is an inherited disorder that progressively destroys neurons in central and peripheral nervous system. There are more than 150 different GLB1 mutations described in the literature that are evenly distributed along the gene. Our GM1 Gangliosidosis Test includes sequencing of all protein coding exons (16 exons).

These December additions into our test menu will widen the spectrum of genetic tests, especially in diseases closely associated with cardiovascular manifestations. Launching of Emery-Dreifuss Muscular Dystrophy Panel is the first step in our ultimate goal to provide comprehensive genetic testing for all hereditary neuromuscular diseases. Excitingly, we are also in the process of developing genetic tests for hereditary retina diseases, kidney diseases and hyperlipidemias. All our panels are developed in close collaboration with clinical specialists in the respected fields of medicine.

Blueprint Genetics is grateful for the cooperation with all physicians, hospitals and researchers who have worked with us during the Autumn 2013. We wish you a Merry Christmas and all the best for the year 2014!

Blueprint Genetics Team

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