In this podcast, Mikko Muona, Genetic Informatics Scientist, and Samuel Myllykangas, CTO, are discussing why WES is instrumental tool for determining genetic underpinnings of inherited disorders, how WES can be applied to solve clinical cases with complex genetic backgrounds and what WES solutions Blueprint Genetics is offering for diagnostics of patients with inherited disorders.

Whole Exome Sequencing is a Powerful Tool to Diagnose Inherited Disorders with Complex Phenotypes

Science

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.

Blueprint Genetics' highlights at ACMG 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. 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.

How to design the perfect panel

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.

Management of patients with hereditary cardiovascular disease

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.

Clinical interpretation in genetic testing of inherited disorders

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.

Whole Exome Sequencing is a Powerful Tool to Diagnose Inherited Disorders with Complex Phenotypes

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