Blueprint Genetics

Blueprint Genetics, established in 2012, operates as a specialized genetic testing company with a focus on inherited diseases. The company was founded in Helsinki, Finland, by a team that includes biologist Samuel Myllykangas and doctors Juha Koskenvuo and Tero-Pekka Alastalo. The founders' journey began at Stanford University, where Myllykangas was developing a targeted sequencing method called 'Oligonucleotide-Selective Sequencing' to analyze patient DNA. Recognizing the clinical potential of this technology for identifying hereditary diseases, the trio launched the company upon their return to Finland. Tommi Lehtonen and Juha-Pekka Välipakka are also credited as co-founders.

The firm serves a global clinical community, including hospitals and research groups, across more than 70 countries. Its business revolves around providing high-quality genetic diagnostic services. Clinicians send patient samples, typically blood, for analysis, and Blueprint Genetics returns the results through a web service. The company's revenue is generated from the sale of its testing portfolio, which includes over 200 panel tests and 3,900 targeted single gene tests covering 14 medical specialties such as cardiology, neurology, and oncology. This comprehensive offering is built upon a foundation of next-generation sequencing (NGS), proprietary bioinformatics, and deep expertise in gene variant interpretation.

Blueprint Genetics' core product is its suite of genetic tests, which are designed to be cost-efficient with fast turnaround times, often delivering results in weeks instead of months. The company utilizes advanced technologies like OS-Seq and provides various analyses including targeted NGS panels, whole-exome sequencing, and copy number variation (CNV) analysis. A key differentiator is the company's ability to provide clinician-friendly analyses and actionable insights from complex genetic data. In January 2020, Blueprint Genetics was acquired by Quest Diagnostics, a major player in diagnostic information services. This acquisition was aimed at expanding Quest's capabilities in rare diseases and next-generation sequencing, while allowing Blueprint Genetics to leverage Quest's extensive infrastructure in the United States and other markets. Following the acquisition, the company has continued to operate largely independently from its headquarters in Helsinki and has expanded its North American presence with a lab in Seattle.

Keywords: genetic diagnostics, hereditary diseases, next-generation sequencing, gene variant interpretation, rare disease testing, clinical genetics, DNA sequencing, molecular diagnostics, genetic testing panels, whole exome sequencing, cardiovascular genetics, neurogenetics, cancer genetics, bioinformatics, Oligonucleotide-Selective Sequencing, Quest Diagnostics, Finnish health tech, inherited disorders, clinical interpretation, genetic screening, precision medicine, diagnostic services, DNA analysis, genetic health, inherited retinal dystrophy