Blueprint Genetics Podcast

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. 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.

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.

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.

Blueprint Genetics was founded five years ago 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, Ph.D together with Lauren Moissiy, MS, LGC, will discuss the origin of the company and what makes Blueprint Genetic a successful genetic testing provider.

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.