In 2013 Blueprint Genetics launched 14 comprehensive diagnostic NGS panels for hereditary cardiovascular diseases and certain neurological disorders. As previously, our service with inclusive clinical statements and interpretations has been continuing to receive excellent feedback from our customers. The number of ordering hospitals has been increasing and to date physicians from nine countries in Europe, Asia and North America have been ordering our diagnostic products. Our state-of-the-art service is based on our proprietary sequencing technology, unique bioinformatics pipeline, mutation and knowledge database and the final interpretation by our team of geneticists and clinical experts combined with the fastest turn-around-time in the market.
Blueprint Genetics is highly motivated in supporting the development of the field of genetic diseases. A crucial component in this process involves sharing of obtained variant data in public databases, such as ClinVar (www.ncbi.nlm.nih.gov/clinvar/) and other regarded databases. Our first submission to ClinVar took place on the 12th of February 2014. We are also highly committed in supporting any existing patient registries and ongoing clinical research. Comprehensive technical information from the sequence analysis has been incorporated to all our statements since January 2014 allowing full transparency in our service. We believe this application gives the customer full and open access to all details involved in the analysis and forms the golden standard for today’s NGS genetic diagnostics.
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 February 14th 2014, Blueprint Genetics is launching a new set of diagnostic panels. These are the Hyperlipidemia Panel and the Nephrotic Syndrome Panel. 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.
The BpG Hyperlipidemia Panel is ideal for the genetic analysis of patients with virtually any type of hyperlipidemia. All classical familial hypercholesterolemia (FH) genes (APOB, LDLR, LDLRAP1 and PCSK9), as well as genes associated with other hyperlipidemias such as ‘type 3 hyperlipidemia’ (APOE), sitosterolemia (ABCG5 and ABCG8) and lipoprotein lipase deficiency (LPL), are included in the analysis. Genetic information can be used for diagnostics and prognostics, and genetic testing of familial hyperlipidemia is now recommended in the diagnostics of familial hyperlipidemia. The Dutch Lipid Clinic Network has published their clinical criteria for diagnostics of heterozygous familial hypercholesterolemia (heFH) that also includes a new recommendation by the European Atherosclerosis Society for application of genetic diagnostics in hypercholesterolemia (Nordestgaards et al. 2013). In addition to comprehensive genetic diagnostics, the Hyperlipidemia Panel provides pharmacogenetic information that guides treatment of hyperlipidemia patients, e.g. optimizing cholesterol-lowering therapies. Please see details at our website: http://blueprintgenetics.com/hyperlipidemia-panel/.
Nephrotic Sydrome Panel
The BpG Nephrotic Syndrome Panel is a powerful genetic diagnostic tool for patients manifesting nephrotic syndrome. The disease is caused by leaky glomerular filtration barrier resulting in extensive proteinuria, hypoalbuminemia and edema. Out of these/nephrotic syndrome patients 10-20% are considered to have steroid-resistant nephrotic syndrome (SRNS). Some of them may respond to other immunosuppressive therapies. The prognosis of steroid-resistant nephrotic syndrome is poor, as 30–40% develop end-stage renal disease requiring dialysis and transplantation. Several genes associated with the filtration barrier have been identified to harbor SRNS-related mutations. Identified genes, their mutations, and genotype-phenotype correlations are now being translated into everyday clinical practice through genetic testing. The development of next-generation sequencing technologies is allowing rapid, comprehensive and cost-efficient genetic diagnostics for patients with nephrotic syndrome without cascade screening. Genetic diagnostics is becoming an important tool in personalizing the diagnostics and treatment of nephrotic syndrome and, thus, improving the management of these patients.
We are working together with nephrologists, who have a strong background in clinical assessment of patients with nephrotic syndrome. They will team up with our geneticists to produce the best clinical interpretations and statements currently on the market.
These February additions into our test menu will widen the spectrum of genetic tests, especially in diseases closely associated with cardiovascular manifestations. Excitingly, we are also in the process of developing genetic tests for genetic retina and neuromuscular diseases. All our panels are developed in close collaboration with clinical specialists in the respected fields of medicine. Furthermore, our statements are always produced together by our team of geneticists and clinical experts.
Blueprint Genetics Team