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…
Read moreUnderstanding 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…
See moreAnalytic 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…
Read moreFeatured video
Genetic Diagnostics and Targeted Therapies of Primary Immunodeficiency Diseases (PID)
Published on April 23, 2018
This educational webinar is provided by Blueprint Genetics on genetic diagnostics and targeted therapies of Primary Immunodeficiency Diseases (PID) led by Dr. Jolan E. Walter. The current understanding of the genetic basis of PID and the present and emerging reasons for offering genetic diagnostics for these patients are discussed. A…
All videos
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…
See more
Talk: Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases
Blueprint Genetics’ senior geneticist Jennifer Schleit (PhD, FACMG) gave a talk on Optimizing Whole Exome Sequencing Assays for Clinical Diagnostic of Rare Diseases at ACMG 2018. Find out why high-quality exome is so important. “Using a high-quality exome maximizes the likelihood of finding a diagnosis for your patient”, Jennifer Schleit says.
See more
Genetic Diagnostics and Targeted Therapies of Primary Immunodeficiency Diseases (PID)
This educational webinar is provided by Blueprint Genetics on genetic diagnostics and targeted therapies of Primary Immunodeficiency Diseases (PID) led by Dr. Jolan E. Walter. The current understanding of the genetic basis of PID and the present and emerging reasons for offering genetic diagnostics for these patients are discussed. A…
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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.