Education & Resources

The current market state of Whole Exome Sequencing

How to Navigate the Complex World of Whole Exome Sequencing For patients, family members, and healthcare professionals, uncertainty surrounding a genetic diagnosis can be quite painful. Utilization of high quality and comprehensive next generation sequencing (NGS) technologies can significantly improve the diagnostic yield in these patients and end the “diagnostic…

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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…

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Whole Exome Sequencing for Rare Pediatric Diseases

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

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