Blueprint Genetics Podcast Blueprint Genetics

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.

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 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.

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.

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.

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, and Samuel Myllykangas, CTO, are discussing why AI is instrumental in advancing the interpretation of genetic testing data, how AI is applied for genetic testing of inherited disorders and what AI solutions Blueprint Genetics is offering for patients.