Impressions from ACMG 2022

         March 31, 2022

This year’s ACMG conference in Nashville, TN, marked a positive turning point after two years of virtual meetings in our community. The conference was well attended and found an outstanding balance between on-site meetings and virtual talks. From the Golden Helix perspective, it was wonderful to connect with customers and partners at the event. We were very humbled by the great interest in our NGS software and its use in clinical settings. There were common themes in our conversations. I’d like to use the opportunity to expand on three key topics.

1. Scalability

Our field has evolved quickly. Early on, clinical labs focused primarily on gene panel tests. Today, the whole spectrum from Gene Panels, Clinical Exomes to Whole Genomes is a reality for our customers. In our demos and talks, we spent a lot of time educating conference visitors on how they can leverage the VarSeq Suite for clinical genetic testing, regardless of the scope of a given NGS test.

2. Scope of Implementations

Another topic of interest was what the optimal starting point is to leverage Golden Helix as a vendor. Our team went through numerous deployment examples ranging from small testing labs to regional testing labs to large countrywide genome center initiatives. We, for a wide range of customers, offer attractive license bundles that enable their work in a cost-effective manner.

A VSClinical Demo at ACMG 2022

3. Automation

As sample volumes are increasing and while domain experts are difficult to hire, our automated pipeline capabilities help to increase throughput in a lab, minimize human error and improve accuracy. This was a reoccurring topic at ACMG during our demos, Exhibit Theater talk, and one-off conversations, as automation is one of the most important aspects of running an NGS lab cost-effectively.

In summary, we had a great time showcasing our software and talking to all of you. We want to thank our customers and partners for making this a memorable conference. We are grateful to the organizers of ACMG 2022 for their perseverance and dedication. In just about two months, we will be at the next event. I am looking forward to seeing you all at ESHG 2022.

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