Intelliseq’s Key Takeaways from #ACMG23: The Future of Genomic Decision Making

Monika Opalek, PhD

April 7, 2023

This article features a post-ACMG event interview with Klaudia Szklarczyk-Smolana, the CEO of Intelliseq, and David Hanna, the Chief Commercial Officer at Intelliseq. They discuss their key takeaways from the event, the future of genomic clinical decision making, and Intelliseq's plans to implement their learnings. The interview also highlights the importance of attending industry events for staying up-to-date on advancements and developments in the field.

  • Hi Klaudia, David thanks for taking the time to speak with us today. Let's start with your experience at the ACMG event. How was it?

Klaudia: Hi there, it was a fantastic experience. The event had a great balance between academic and commercial focus, and the size was just right.

David: We had the opportunity to engage with a wide range of experts and companies in the healthcare and diagnostics industry.

  • That sounds great. What were some of the key takeaways for Intelliseq from the event?

Klaudia: We learned that new technologies are maturing, and while they're proficient in primary and sometimes secondary analysis, they will require tertiary analysis partner companies in order to successfully implement them in a clinical setting.

David: We also saw that there is high interest in rare variant assessment reporting, and to a lesser extent pharmacogenomics. However, clinical reporting of polygenic risk scores is still a debated application.

  • Interesting. So how do you plan to implement these learnings?

Klaudia: We plan to continue engaging both sides of the workflow presented at ACMG. We want to be the clinical reporting and automated bioinformatic engine of choice for mature and new sequencing platforms, and partner with companies whose goal is to ease accessibility of genomic clinical decision information in both in-patient and ambulatory settings.

  • Great plan. What do you see as the future of the healthcare and diagnostics industry based on the topics discussed at the ACMG meeting?

David: The future is exciting. The arrival of new 'assay' technologies that will significantly reduce the cost of whole genome sequencing will be the state-of-the-art. Moving variants from the bin of VUS to pathogenic or likely pathogenic is the current Holy Grail. Because of this, tools that can assess a variant's status in an automated, accurate, and rapid fashion will be highly relevant for the future.

  • That sounds like a great opportunity for Intelliseq. Speaking of which, what is the benefit for companies like Intelliseq to attend events such as ACMG?

Klaudia: The benefit is staying close to new developments and advancements in the industry. Clinicians are less worried about the ability to generate genomic data than they are about their ability to interpret this data and report it out in a clinic-ready, physician-ready fashion. With the blossoming of technologies that can generate whole genome data at affordable prices, and the number of labs able to process samples at high volumes, comes the need of automated tools that can rapidly - and with high quality - interpret that data for better informed clinical decisions.

  • That makes sense. And finally, can you both describe the event in three words?

Klaudia: Inspiring, educational and engaging.
David: Relevant, right-sized, focused.

  • Great, thank you for your time!
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