Education & Resources

Upcoming educational webinar on genetic testing in cardiology

June 28th, 9:00AM PST, 6:00PM CET Raising the bar: What to expect from cardiovascular genetic testing in 2018 Register The last decade has led cardiovascular (CV) genetic testing down a windy and bumpy road. Multiple efforts have been made over the years to streamline genetic testing…

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Understanding Variants of Uncertain Significance

Description of Program Content: Variant interpretation remains a challenging aspect of genetic testing due to the significant amount of expertise and time required for this task. The identification of a variants of uncertain significance (VUS) can be challenging for both the clinician and patient. Jennifer Schleit, Senior Geneticist at Blueprint…

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Analytic Validation of a Next Generation Sequencing Based Primary Immunodeficiency Panel

[POSTER] Keywords: immunology, diagnostics, validation, primary immunodeficiency (PID) Authors: Kim Gall, Pertteli Salmenperä, Mikko Muona, Massimiliano Gentile, and Juha Koskenvuo, Blueprint Genetics, Helsinki, Finland. Abstract: Genetics diagnostics of patients with suspicion of immunodeficiency has been affected by poorly validated genetic tests, lack of transparency, and testing solutions that are not optimized for maximal…

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Understanding Variants of Uncertain Significance

Description of Program Content: Variant interpretation remains a challenging aspect of genetic testing due to the significant amount of expertise and time required for this task. The identification of a variants of uncertain significance (VUS) can be challenging for both the clinician and patient. Jennifer Schleit, Senior Geneticist at Blueprint…

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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.

Last modified: 07.07.2017