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Blueprint Genetics to Open North American Lab as Biopharma Business Grows


NEW YORK – Finnish genetic diagnostics company Blueprint Genetics has seen demand for its sequencing-based rare disease gene panels rise over the past couple of years, particularly in North America, where it will soon open a testing laboratory.

In part to meet requests for biomarker testing from potential biopharmaceutical partners, which have shown a growing interest in the company's services, the new lab will offer both NGS-based panels and biochemical tests, which Blueprint is bringing in house through a partnership with Austrian firm Archimedlife Medical Laboratory.

Blueprint also announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run since 2017 in partnership with the Foundation Fighting Blindness and InformedDNA.

Blueprint CEO Tommi Lehtonen said that the company, which specializes in genetic diagnostics of rare inherited diseases in 14 medical specialties, has grown significantly in recent years, both in terms of headcount and revenues.

The company's staff, the majority of whom are based at its headquarters in Espoo near Helsinki, increased from over 100 in early 2018 to more than 170 employees today. The firm also has offices in Australia, Dubai, and Seattle and offers genetic testing in Europe, North and South America, Australia, and the Middle East.

Revenues, likewise, continue to grow. Last year, the company had more than €15 million in revenues, Lehtonen said, and this year it is on track to generate between €20 million and €30 million in sales.

The firm has raised about €23 million in funding from investors to date, most recently €14 million in 2017, but doesn't plan any additional fundraising at the moment.

Gene panels in the areas of cardiology and ophthalmology are still the most important tests for the firm, though neurology, malformation, and nephrology panels have also been strong, Lehtonen said, driven by the company's ability to sequence and interpret certain genes that are considered challenging in these areas, such as the PKD1 gene for kidney disease or the RPGR gene for eye disease.

This year Blueprint has also seen growth in its inherited cancer panels and plans to make "some very significant updates" to them, he said. In addition, a major general update of its panels is planned before the end of the year.

In the US, Blueprint's main competitors remain the large genetic testing labs including Invitae, GeneDx, Ambry Genetics, and Prevention Genetics, Lehtonen said, while in Europe, it mainly competes against Centogene these days.

Blueprint's testing platform is based on exome sequencing, though that may change in the future. "I think whole-genome sequencing is coming, [but] we don’t think it's going to happen overnight," Lehtonen said. "We're already seeing attractive things happening in clinical whole-genome sequencing projects, but we don't have set plans." One way the company may proceed is to adopt a dual approach, offering a clinical exome (a subset of the full exome) and a whole genome.

While Blueprint's revenues and testing volumes have grown in both North America and Europe, its North America testing business has surpassed the European one, and the US is now its largest country, followed by Canada.

To be able to serve North American customers better, Blueprint is in the process of building a laboratory in Seattle, which is already receiving customer samples that currently get sent to its laboratory in Finland. Starting next year the Seattle lab will run both Blueprint's NGS panels and Archimedlife's biochemical assays.

The decision to add biochemical testing was based on Blueprint's nascent biopharma business. Last year, the company started to form its first collaborations with pharma customers, Lehtonen said, and "as a result, we started to get a lot of requests for biomarker or biochemical testing."

Archimedlife seemed like a good partner because the two companies both care about high-quality testing and because Archimedlife does not have a lab in North America. And while biochemical assays might also become part of Blueprint's clinical testing business, the deal "was driven by our ambition to go into pharma deals," he said.

Lehtonen declined to disclose how many biopharma collaborations Blueprint has established to date, or how its business breaks down between clinical testing and pharma partnerships.

One of its pharma collaborations is with California firm BioMarin Pharmaceutical, which has been developing drugs for several rare genetic diseases. Under the program, Blueprint is offering a comprehensive epilepsy panel at no cost to pediatric epilepsy patients in Europe and the Middle East. According to Blueprint's website, the initiative "is part of BioMarin's service support for patients and families with rare genetic diseases such as the neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare neurodegenerative disease presenting with epilepsy in the pediatric age." BioMarin's drug cerliponase alfa (Brineura) is approved for patients with late infantile CLN2, which affects an estimated 20 children born in the US each year.

But Blueprint also continues to partner with non-pharma organizations. This week, it announced an expansion of the My Retina Tracker genetic testing program, a 2017 partnership with the Foundation Fighting Blindness and InformedDNA that provides free genetic testing to US patients with a clinical diagnosis of an inherited retinal disease.

So far, the program, which is currently funded by the Foundation Fighting Blindness and may in the future be sponsored by biopharma partners, has tested more than 6,000 patients. Under the expansion, patients will be eligible for testing even if they have not been seen by a specialist and enrolled in the program's registry. The goal is to test more than 20,000 IRD patients within the next few years, and Blueprint will continue to provide its retinal dystrophy panel test to patients at no cost.

Ophthalmology in general is an active field for orphan drug development, Lehtonen said, and there are an estimated 200,000 IRD patients in the US. The aim of the program's expansion is to make genetic testing more accessible to patients, he said.