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Genetic and Congenital
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Quest Diagnostics Acquires Blueprint Genetics to Broaden Access to Actionable Insights for Genetic and Rare Diseases

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Acquisition adds platform in gene variant interpretation based on next generation sequencing and proprietary bioinformatics to improve patient care and drug development

Quest Diagnostics, the world’s leading provider of diagnostic information services, today announced that it has acquired Blueprint Genetics in an all-cash equity transaction. Blueprint Genetics is a leading specialty genetic testing company with deep 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. Financial terms of the transaction were not disclosed.

“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.”

Founded in 2012, Blueprint Genetics grew rapidly, and now serves customers in over 70 countries. The company’s 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.

Blueprint Genetics has increased its focus and presence in the United States 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 United States. Blueprint Genetics is expected to continue to operate largely independently from its base laboratory in Helsinki, Finland, and a presence in other countries.

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.

“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.”

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.

“Blueprint Genetics prides itself on resolving the most challenging genetic and rare disease cases to improve patient outcomes,” said Tommi Lehtonen, who has agreed to continue to lead the company as Vice President and General Manager, reporting to Ms. Eglinton Manner. “Teaming up with Quest will allow us to extend our capabilities in the United States as well as in Canada and other countries where we already have strong and growing client relationships. While we considered joining forces with several organizations, Quest’s genetics leadership, national infrastructure and strong cultural fit made it the perfect partner from which to extend our reach to new providers and patients.”

Genetic testing can aid in diagnosing many rare diseases as well as identifying future risk of and treatment for certain cancers and other conditions. According to the National Institutes of Health, as many as 7,000 rare diseases exist and as many as 30 million Americans have a rare disease.

Read the full press release here.

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