PLUGS Webinar – Challenges in selecting the optimal genetic test for my patient
Description of Program Content: The webinar gives an overview of challenges that we still face today in next generation sequencing (NGS) based genetic diagnostics. These challenges are described also by using patient examples. It also defines how these challenges should be taken into consideration when selecting the…
Read moreChallenges in selecting the optimal genetic test for my patient
Description of Program Content: The webinar gives an overview of challenges that we still face today in next generation sequencing (NGS) based genetic diagnostics. These challenges are described also by using patient examples. It also defines how these challenges should be taken into consideration when selecting the optimal diagnostic…
See moreNew Standards in Genetic Interpretation with Next Generation Phenotyping
Blueprint Genetics partners with Face2Gene to demonstrate the new LABS application and discuss “New Standards in Genetic Interpretation with Next Generation Phenotyping.” Dr. Peter Krawitz of Chartié Berlin will also discuss the multi-center PEDIA study, addressing a probabilistic interpretation of big data consisting of phenotype and genotype information.
See moreFeatured video
Challenges in selecting the optimal genetic test for my patient
Published on July 19, 2017
Description of Program Content: The webinar gives an overview of challenges that we still face today in next generation sequencing (NGS) based genetic diagnostics. These challenges are described also by using patient examples. It also defines how these challenges should be taken into consideration when selecting the optimal diagnostic…
All videos
Challenges in selecting the optimal genetic test for my patient
Description of Program Content: The webinar gives an overview of challenges that we still face today in next generation sequencing (NGS) based genetic diagnostics. These challenges are described also by using patient examples. It also defines how these challenges should be taken into consideration when selecting the optimal diagnostic…
See more
New Standards in Genetic Interpretation with Next Generation Phenotyping
Blueprint Genetics partners with Face2Gene to demonstrate the new LABS application and discuss “New Standards in Genetic Interpretation with Next Generation Phenotyping.” Dr. Peter Krawitz of Chartié Berlin will also discuss the multi-center PEDIA study, addressing a probabilistic interpretation of big data consisting of phenotype and genotype information.
See more
Selecting the optimal genetic test for your patient
Looking for transparency Dr. Tero-Pekka Alastalo discusses how sequencing technologies and the chosen strategy in a lab can define quality and yield, highlighting bioinformatics and interpretation as being the biggest challenges in the current market. He also discusses what can make a lab transparent in its services and what is…
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Featured episode
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.
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All episodes
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.
Clinical interpretation in genetic testing of inherited disorders
Published on August 10, 2017
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.
Transparency in genetic diagnostics
Published on June 15, 2017
There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.