NEW YORK (GenomeWeb) – Finnish hereditary disease diagnostics firm Blueprint Genetics plans to significantly expand its portfolio of clinical gene panel tests next year, and in the meantime has been pushing into new territories, including the US.
The Helsinki-based firm started offering diagnostic gene panels for inherited cardiovascular disorders two years ago, using a targeted sequencing technology called OS-Seq that one of its co-founders developed as a postdoc at the Stanford Genome Technology Center.
Since then, business has taken off. According to CEO Tommi Lehtonen, Blueprint has tested almost 3,000 patients with its platform and has received samples from 122 hospitals in 17 countries, though its main markets are in Scandinavia, Canada, Australia, and Italy.
In April, the company received CLIA certification for its Helsinki laboratory, where all samples are analyzed, and it expects to obtain ISO accreditation before the end of the year.
The company took on its first US customers this summer and opened a sales office in San Francisco. Another sales office recently opened its doors in Rostock, Germany, and the firm plans to open one in Dubai in the near future. Lehtonen said the Middle East appears to be a promising market, and the company wants to push further into Central European countries and the UK.
Blueprint's staff has more than tripled since 2013, to about 35 people, including several clinicians. Sometime early next year, the company plans to close a Series A financing round, in which it hopes to raise a double-digit million dollar amount, Lehtonen said.
On the technology hardware side, Blueprint recently migrated from the Illumina MiSeq to the NextSeq 500, which has a larger capacity and also appears to be more stable than the MiSeq. "We're really happy with the results," he said.
After getting its feet wet with cardiovascular disorders and spending the last two years on "improving on all aspects of the business" — including assay validation, clinical interpretation, and venturing into new locations — "now we feel that it's the right time for us to expand," Lehtonen said.
Next March at the American College of Medical Genetics and Genomics annual meeting, Blueprint plans to launch 200 to 300 new gene panels for a variety of genetic disorders, a tenfold expansion of its current portfolio of panels. The focus will be on metabolic, neurological, immunological, and cardiovascular diseases, but panels will also cover conditions such as eye disorders and connective tissue diseases.
The company has no plans for inherited cancer panels, though, which Lehtonen said is an already crowded field with many competitors. "Comprehensive NGS testing for non-cancer disorders is just about to take its first steps and we see a huge opportunity in excelling in that space," he said.
The panel tests, which also include mitochondrial sequencing, have a turnaround time of 21 days. The panels derive from a total of 1,500 genes that Blueprint selected based on how actionable they are. The company will sequence these in subsets of 500 to 600 genes and will only analyze those genes that are part of the panel that was ordered for a patient.
The bioinformatics analysis includes not only point mutations but also copy number variations and repeats, and Blueprint is currently developing a clinical interpretation platform that uses the IBM Watson technology.
"The system is used to map out and annotate literature, gather different data, provide one access point to different data, and consolidate all that under a structured decision-making process that is traceable, repeatable, and improves the quality and efficiency of the interpretation," Lehtonen explained. "The idea is to automate the process as much as possible to release geneticists' time for the details of variant classification and adding clinical insight to our statements."
Blueprint uses a variety of databases for its variant interpretation, and has been submitting variants to the ClinVar database "since the early days," he said.
The company is also launching a network for clinicians, allowing them to connect with each other based on mutations found in their patients, which could be particularly helpful for interpreting mutations for which no publications are available yet.
Pricing for Blueprint's panels has remained steady. Most panels listed on the firm's website cost between $1,500 and $2,000 and range in size from six genes to 133 genes, in addition to a couple of single-gene tests.
Reimbursement from health insurance has differed between countries. Germany's statutory health insurance system, for example, currently offers no reimbursement for NGS-based panels, while other countries, such as Canada "have good reimbursement practices," Lehtonen said.
In the US, where the company has seen "both positive and negative claims outcomes" from insurance, Blueprint offers a "patient-friendly billing policy" that caps patients' out-of-pocket expenses at $400.