Blog: Bigger isn’t better: A lesson learned from genes of uncertain significance (GUS)
While rapid advances in diagnostic technology have broadened the testing options available to clinicians, this has come at the cost of increasing uncertainty, writes Julie Hathaway in her blog.
Read moreUPCOMING BLUEPRINT ACADEMY WEBINAR: Utility of genetic testing and application to immune-related disorders
In partnership with the Autoinflammatory Alliance Date: October 25th, 2018 Time: 9:00 – 10:00 am PDT / 18pm CEST The knowledge gained through genetic testing can lead to better patient outcomes. Heritable conditions are caused by mutations, or changes in the DNA of certain genes which are transmitted from…
Read moreWEBINAR: Nucleus – Faster and easier access to ordering genetic testing for your patient
Discover how Blueprint Genetics’ online ordering portal, Nucleus, provides clinicians with simplified ordering and rapid access to test results. Nucleus is designed to be a simple, rapid, and smart platform for placing orders with the added benefit of connecting clinicians based on similar patient variants. Nucleus offers users a guided…
See moreFeatured video
WEBINAR: Nucleus – Faster and easier access to ordering genetic testing for your patient
Published on August 29, 2018
Discover how Blueprint Genetics’ online ordering portal, Nucleus, provides clinicians with simplified ordering and rapid access to test results. Nucleus is designed to be a simple, rapid, and smart platform for placing orders with the added benefit of connecting clinicians based on similar patient variants. Nucleus offers users a guided…
All videos
WEBINAR: Nucleus – Faster and easier access to ordering genetic testing for your patient
Discover how Blueprint Genetics’ online ordering portal, Nucleus, provides clinicians with simplified ordering and rapid access to test results. Nucleus is designed to be a simple, rapid, and smart platform for placing orders with the added benefit of connecting clinicians based on similar patient variants. Nucleus offers users a guided…
See more
Whole Exome Sequencing for Rare Pediatric Diseases
In his presentation, Chief Medical Officer Tero-Pekka Alastalo explains how to navigate the complex world of Whole Exome Sequencing. Rare disease patients are often trapped in a never ending “diagnostic odyssey.” Uncertainty surrounding a diagnosis can be extremely painful for a patient, their family, and healthcare providers. Through the utilization…
See more
Raising the bar: What to expect from cardiovascular genetic testing in 2018
While cardiovascular (CV) genetics was the first subspecialty to introduce large scale multi-gene panels, it was also the first to experience an important downstream effect. This resulted in a wave of results, that we would soon learn, were not all that they seemed. The last decade has led cardiovascular genetic…
See moreSubscribe to our newsletter
Featured episode
Blueprint Genetics’ highlights at ACMG 2018
Published on April 26, 2018
What are the most inspiring takeaways from the scientific sessions? How does NGS genetic testing provide clinicians a better tool to diagnose patients? In this podcast, Genetic Services Consultant Adam Beres and Clinical Interpretation Team Leader Eveliina Salminen discuss the highlights of the 2018 Annual Clinical Genetics Meeting (2018) organized in Charlotte, NC, USA. Eveliina addresses the most interesting topics from the scientific sessions, e.g. how NGS genetic testing has provided clinicians with a powerful tool to better diagnose patients. In addition, we hear greetings from the lively exhibition floor and what are the latest developments at Blueprint Genetics, including the recent panel update and technological improvements.
What do you want to hear next?
All episodes
Blueprint Genetics’ highlights at ACMG 2018
Published on April 26, 2018
What are the most inspiring takeaways from the scientific sessions? How does NGS genetic testing provide clinicians a better tool to diagnose patients? In this podcast, Genetic Services Consultant Adam Beres and Clinical Interpretation Team Leader Eveliina Salminen discuss the highlights of the 2018 Annual Clinical Genetics Meeting (2018) organized in Charlotte, NC, USA. Eveliina addresses the most interesting topics from the scientific sessions, e.g. how NGS genetic testing has provided clinicians with a powerful tool to better diagnose patients. In addition, we hear greetings from the lively exhibition floor and what are the latest developments at Blueprint Genetics, including the recent panel update and technological improvements.
How to design the perfect panel?
Published on March 6, 2018
How can a lab capture the current clinical and genetic expertise into an accurate diagnostics tool? As science moves forward, panels must be constantly improved and reviewed to ensure that the latest genetic knowledge is integrated. Eveliina Salminen, Clinical Interpretation team leader, and Samuel Myllykangas, Chief Technology Officer at Blueprint Genetics, discuss what to take into account when designing new panels to match clinical needs. "Many of the genes we have been currently adding are only very recently identified as clinically relevant. You really need to go to publications and investigate", says Eveliina Salminen.
HIRO program: A new model for improving management and care of patients with hereditary cardiovascular disease
Published on August 11, 2017
In this podcast Dr. Tero-Pekka Alastalo from Blueprint Genetics discusses with Dr. Krahn about the HIRO program and walk through the motivation, the history, the goals and the future of HIRO. It also involves discussion on using genetic testing in hereditary cardiovascular diseases. The discussion also addresses why the HIRO initiative is internationally unique and could be used as an operative model in other rare diseases and in other countries than Canada.