Blueprint Genetics, a Finnish biotechnology company, has developed innovative approaches for genetic testing. It was founded in 2012 and secured recognition for its comprehensive and accurate genetic analysis, particularly in the areas of rare diseases, cardiology, neurology, and oncology. After a funding round of €14 million in 2017, they were acquired by Quest Diagnostics in an all-cash equity transaction.
Blueprint Genetics still operates as an independent company and is now one of the fastest growing genetic diagnostics businesses globally in the field of clinical genetic testing of rare inherited diseases. It is based in Helsinki and Seattle, with a customer base spanning over 70 countries. www.blueprintgenetics.com.
Innovative Technology and Methods
Blueprint Genetics leverages next-generation sequencing (NGS) technology to analyze DNA samples, enabling the simultaneous sequencing of multiple genes. This method provides a more efficient and comprehensive analysis compared to traditional genetic testing methods. The company’s proprietary bioinformatics pipeline ensures high accuracy and reliability in detecting genetic variants.
One of the key innovations of Blueprint Genetics is its ability to sequence both the coding regions (exons) and the non-coding regions (introns) of genes. This approach is crucial for identifying variants that may be missed by traditional exome sequencing, which focuses only on the coding regions. By analyzing the entire gene, Blueprint Genetics offers more comprehensive insights into genetic disorders.
Comprehensive Testing Panels
Blueprint Genetics offers a wide range of genetic testing panels tailored to specific medical conditions with a thorough analysis. For example, the company’s cardiology panel includes genes related to various heart conditions, while the neurology panel focuses on genes associated with neurological disorders.
The company’s rare disease panel covers a broad spectrum of genetic conditions that are often challenging to diagnose, which helps healthcare providers make more accurate diagnoses and develop targeted treatment plans.
Clinical Utility and Impact
Their genetic testing services have significant clinical utility because early and accurate diagnosis of genetic disorders can lead to better patient outcomes by enabling timely interventions and suitable treatment . For example, identifying a genetic mutation associated with a specific type of cancer can guide oncologists in selecting the most effective therapies.
Blueprint Genetics also plays a crucial role in preventive healthcare. By identifying genetic predispositions to certain diseases, individuals can take proactive measures to manage their health risks. This includes lifestyle changes, regular screenings, and early interventions to prevent or mitigate the onset of genetic disorders.
Competitors in the Genetic Testing Market
Blueprint Genetics faces competition from several established players in the genetic testing market. Some of the biggest competitors include:
- Illumina: A global leader in DNA sequencing and array-based technologies, Illumina offers a wide range of genetic testing solutions for research and clinical applications.
- Invitae: A U.S.-based company that provides comprehensive genetic testing services for inherited disorders, cancer, and other medical conditions.
- Myriad Genetics: Known for its BRCA gene testing for breast and ovarian cancer risk, Myriad Genetics offers a variety of genetic tests for hereditary diseases.
- 23andMe: While primarily known for its consumer-focused ancestry and health testing, 23andMe also offers clinical-grade genetic testing services.
- GeneDx: A subsidiary of BioReference Laboratories, GeneDx provides comprehensive genetic testing services for rare and inherited disorders.
