ACMG 2023 Insights: Exploring Whole Exome Sequencing, Hereditary Cancer, and Prenatal Genetics

         March 28, 2023
Golden Helix President and CEO, Andreas Scherer, presenting at ACMG 2023
Golden Helix President and CEO, Andreas Scherer, presenting at ACMG 2023

Our team at Golden Helix remains committed to advancing genomics and personalized medicine. We actively participate in industry conferences to stay current with the latest developments, such as the recent ACMG 2023 in Salt Lake City, Utah. This event facilitated valuable insights and discussions on several topics. Three key areas of focus included:  

Whole Exome Sequencing: Whole Exome Sequencing (WES) was a prominent theme at ACMG 2023. There is a plethora of sequence providers in this field offering long and short read technologies. This diversity of options allows customers to investigate WES from multiple perspectives. At Golden Helix, we have long supported clients who utilize whole genome sequencing for clinical purposes. We are excited to witness the growing adoption of WES and anticipate further advancements in this technology. 

Hereditary Cancer: The conference also highlighted the importance of expertise in both hereditary cancers and somatic mutations. This necessitates a deep understanding of the ACMG and AMP guidelines, ensuring our customers remain well-equipped to handle the complexities of these cases. 

Prenatal Genetics: Another significant area of interest was Prenatal Genetics, particularly the increasing use of WES for diagnostic tests in prenatal screening and newborn diagnostics. This development holds tremendous promise for improving care in this space. Nevertheless, as the demand for such tests rises, scalable lab infrastructure will be crucial to manage the growing volume of cases. To further explore the topic of prenatal genetics, I recently released an eBook titled “Prenatal Genetics.” This resource discusses the use of whole exome sequencing for prenatal diagnostics, its applications, and its integration with VarSeq and VSClinical for enhanced diagnostic accuracy and counseling. 

We are encouraged by the innovative ways our customers employ our tools and resources to advance their work in genomics and personalized medicine, especially regarding the future of WES in prenatal genetics. 

Our appreciation goes to the ACMG 2023 team for organizing a remarkable event, and we commend all presenters for their contributions. The dedication of participants to positively impact the field of genetics and genomics was evident. 

In the coming months, we will attend ESHG 2023, AMP Europe 2023 and present at Bio-IT World in May. We remain dedicated to innovation and collaboration, eagerly anticipating upcoming conferences and the opportunity to engage with like-minded professionals driving progress in this dynamic field. 

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