Quest Diagnostics Acquires Blueprint Genetics

Quest Diagnostics (Secaucus, NJ, USA), a provider of diagnostic information services, has acquired Blueprint Genetics (Helsinki, Finland), a specialty genetic testing company with expertise in gene variant interpretation based on next generation sequencing (NGS) and proprietary bioinformatics. Together, Quest and Blueprint Genetics will broaden access to actionable insights in genetic and rare diseases, improving patient care and pharmaceutical drug research and development.

Founded in 2012, Blueprint Genetics’ growth is based largely on proprietary guideline-supported methods of gene variant interpretation of data generated from next generation sequencing, backed by high-touch consultative service. The company provides 3,900 targeted single gene and over 200 panel tests spanning 14 medical specialties. Gene variant interpretation involves identifying associations between gene variants and disease or treatment response.


Through its Advanced Diagnostics offerings, Quest specializes in combining state-of-the-art technologies, such as next generation sequencing, with higher-order interpretative expertise and digital customer enablement. Blueprint Genetics brings to Quest high-touch service in variant interpretation and reporting and associated sequencing and bioinformatics, which complement and extend its existing genetics leadership.

Blueprint Genetics has increased its focus and presence in the US through a recently established hub facility in Seattle, Washington. The acquisition provides a platform for Blueprint Genetics to leverage Quest's capabilities in next generation sequencing and national infrastructure serving half the health systems and physicians in the US. Blueprint Genetics is expected to continue to operate largely independently from its base laboratory in Helsinki, Finland, and a presence in other countries.

Over time, the acquisition is expected to yield new capabilities to serve providers specializing in rare disease and neurology, particularly pediatric and academic hospitals. The two organizations also envision that members of the Quest Diagnostics Global Diagnostic Network and its pharmaceutical and in vitro diagnostic collaborators will benefit from Blueprint Genetics' capabilities.

"The great challenge with genetic testing is generating quality, actionable and broadly accessible insights from vast quantities of sequenced genetic data," said Steve Rusckowski, Chairman, President and CEO, Quest Diagnostics. "Blueprint Genetics has developed a proven model for delivering highly specialized genetic insights that we believe we can scale to serve new patient populations with unmet clinical needs. The addition of Blueprint Genetics strengthens and extends the Quest value proposition in genetics, delivering on our Accelerate growth strategy and vision of a healthier world."

"As the leader in Advanced Diagnostics, Quest Diagnostics understands that robust bioinformatics and consultative expertise are essential to fast, accurate and cost-efficient data interpretation," said Carrie Eglinton Manner, Senior Vice President, Advanced Diagnostics, Quest Diagnostics. "Blueprint Genetics brings to Quest a proven platform in specialty genetics -- especially gene variant interpretation and reporting -- that powerfully differentiates our Advanced Diagnostics offering."

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