Blueprint Genetics introduces the new Screening Tests family – giving actionable insights for family planning, and future health

The major new portfolio expansion will answer the ever-increasing demand for genetics evaluations for conceiving couples and healthy individuals and provide medically actionable results. 

While genetic diagnostic tests for affected individuals are a great tool for finding out the cause of a disease, understanding one’s health risks before the onset of the disease is crucial in being able to take preventative action. Many people can be carriers of genetic disorders, even without symptoms or known family history. Research indicates one in five healthy adults has an increased risk for a serious health condition due to their genetics, while up to 15% of healthy individuals had a positive screening result for a treatable or preventable disease.  

The Screening Tests family, to be released on June 28, 2023, is intended for pregnancy and family planning and healthy, symptomless individuals seeking a comprehensive health check. Both tests will highlight any increased risks of a genetic condition while enabling informed decisions to be made based on the current range of available options. 

 “We are very pleased to announce the launch of a new category of genetic testing that will serve healthy individuals who want to take on a more preventive mindset about their health. Genetic screening for unaffected individuals is becoming a mainstream practice in the field of gynaecology, cardiology, and cancer and is recommended in guidelines from multiple societies. Blueprint Genetics’ Screening tests will serve everyone with high-quality tests to help them make better decisions about family planning and their general health management,” said Blueprint Genetics Executive Director, Medical and Laboratory Director Juha Koskenvuo, MD, PhD. 

The Screening Tests are offered as the following: 

• Reproductive: This category will offer carrier screening for reproductive purposes and help couples planning to have a baby. Results will highlight if either or both prospective parents are a carrier of a genetic disorder, thereby increasing the risk of the baby being affected by the disorder or being a carrier of the same genetic mutation.
• Proactive: This category offers screening for individuals who are interested in knowing whether they have an increased chance of having a genetic condition that makes them susceptible to hereditary cancer and cardiac or metabolic disease.

The Screening Tests genetic menu was created and curated by reviewing existing variant databases and industry position papers. Blueprint Genetics also actively sought ‘voice of the customer’ input from key opinion leaders in the field. All compiled genetic information input was then reviewed by Blueprint Genetics’ medical and scientific leadership to confirm and sign off that the included genes met the criteria for moving forward. A total of 624 unique genes were curated to be offered in Blueprint Genetics’ Screening Test category, and all have been identified as medically actionable by the American College of Medical Genetics and Genomics. 

“For the curation process, we carefully selected the genes that would give the best answers for reproductive decision and health management actions as opposed to a “more is always better” approach, which is not always the best option. At Blueprint Genetics, we endeavor to provide results that matter which will give the patient the best possible outcomes for their future health,” added Koskenvuo. 

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About Blueprint Genetics:

Blueprint Genetics, a Quest Diagnostics® company, is a leading specialty genetics and bioinformatics company focused on providing genetic testing for inherited diseases. The company is based in Helsinki and Seattle, with a customer base spanning over 70 countries. www.blueprintgenetics.com

Further information
Solveig Sjöblom, Director, Product Management, solveig.sjoblom@blueprintgenetics.com

References: 

• ​​The conditions tested for by our Proactive Panels are medically actionable according to the American College of Medical Genetics and Genomics (Miller DT et al., 2022) 
• On average, an individual is a carrier of around 2.8 pathogenic variants (Fridman H et al., 2021) 
• Of 12,000 individuals screened for 3 disorders, 1 in 240 were carrier couples with an increased risk of having a child with a disorder (Archibald AD et al., 2018) 
• www.science.org/content/article/one-five-healthy-adults-may-carry-disease-related-genetic-mutations 
• Physician-directed genetic screening to evaluate the personal risk for medically actionable disorders: a large multi-centre cohort study BMC Med. 2021;19(1):199. The published correction appears in BMC Med. (Haverfield EV, Esplin ED, Aguilar SJ, et al.)