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.

The post Blueprint Genetics’ highlights at ACMG 2018 appeared first on Blueprint Genetics.

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. In this podcast, we 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 in the podcast.

The post How to design the perfect panel appeared first on Blueprint Genetics.

The Pan Canadian Hearts In Rhythm Organization, HIRO, represents a unique multi-center collaborative effort to improve the management and care of patients with rare diseases such as hereditary cardiovascular diseases.  The initiative was originally launched at University of British  Columbia (UBC), Vancouver, by cardiologist Dr Andrew Krahn and his team. Dr Krahn is a professor and the head of cardiology at UBC, and is an internationally recognized expert in the genetic causes and management of cardiac arrhythmias, causes of loss of consciousness, and implantable heart rhythm devices.

In this podcast, Dr Tero-Pekka Alastalo from Blueprint Genetics discusses with Dr Krahn about the HIRO program and walks through the motivation, the history, the goals, and the future of HIRO. The podcast also involves discussion on using genetic testing in hereditary cardiovascular diseases, and how this unique international initiative could be used as an operative model in other rare diseases and in other countries than Canada.

HIRO’s vision is to bring together individuals suffering from inherited heart rhythm conditions to create a strong and unified network that will strengthen the medical community’s understanding in this specialty area of cardiology. Blueprint Genetics is excited to be one of the long-term supporters of the HIRO program.

The post Management of patients with hereditary cardiovascular disease appeared first on Blueprint Genetics.

In this podcast, the Head of Clinical interpretation team Eveliina Salminen (MD, PhD, Clinical geneticist) and Executive Director of Strategy Samuel Myllykangas (PhD) are discussing the importance, principles and practice of clinical interpretation in genetic testing of inherited disorders.

Accurate diagnosis of a patient with suspected inherited disorder requires detailed clinical information of the patient combined with family history and genetic testing results. Correct diagnosis confirmed with genetic testing forms the basis for selecting impactful and efficient treatments and surveillance for patients with inherited disorders and enables genetic counselling of the patient and the family.

However, utilization of large gene panels and whole exome sequencing in clinical practice is challenging since these technologies yield hundreds to thousands of variants in each patient. Clinical interpretation is a process where our team of geneticists and clinicians are classifying patient’s variants, evaluating their correlations to specific clinical phenotypes and formulating an in-depth report that characterises the observations and underlying scientific evidence.

The post Clinical interpretation in genetic testing of inherited disorders appeared first on Blueprint Genetics.

In this podcast, Samuel Myllykangas, Ph.D and Tero-Pekka Alastalo, MD, Ph.D will discuss next generation sequencing used in clinical diagnostics and currently existing challenges in quality and performance. The Podcast also describes the Blueprint Genetics solutions and strategies to enforce transparency and improve the quality of genetic testing.

Key learning objectives:

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Clinical interpretation of genetic data is a complex process, which involves connecting patient’s genetic variants and phenotypes with experimental scientific information. Blueprint Genetics is applying Artificial Intelligence (AI) in clinical interpretation to automate manually laborious interpretation processes and empower geneticists and clinicians to interpret patients’ test data accurately and consistently.

In this podcast, Massimiliano Gentile, Informatics Director, PhD, and Samuel Myllykangas, Executive Director of Strategy, PhD, are discussing artificial intelligence in genetic testing of inherited disorders.

Key learning objectives:

The post Artificial intelligence in Genetic Testing of Inherited Disorders appeared first on Blueprint Genetics.

Blueprint Genetics was founded in 2012 as a Stanford University spin-off company. The aim from the beginning has been to bring genetic diagnostics into the daily routines of healthcare organizations. In this podcast, Blueprint Genetics co-founder Tero-Pekka Alastalo, MD, PhD, and Lauren Moissiy, MS, LGC, will discuss the origin of the company and what makes Blueprint Genetics a successful genetic testing provider.

Learning objectives:

The post An introduction to Blueprint Genetics appeared first on Blueprint Genetics.