Clinical Variant Interpretation Based on ACMG Guidelines – Part I

         April 9, 2018

The clinical interpretation of variants is time-consuming and requires attention to details. Clinicians are being asked to thoroughly review any variants that could potentially cause disease. There are guidelines for the interpretation of variants relating to hereditary risk, germline diagnostics, and molecular oncology panels, such as those issued by the American College of Medical Genetics (ACMG), which are nationally and internationally recognized.

The final variant classification and reporting status often require adjudicating multiple lines of evidence, following decision graphs and evidence weighing systems. Automation of this process eliminates the problems associated with human error and individual subjectivity. Finally, automation of the informatics, along with guided workflow reduces the time and effort required for molecular pathologists and medical geneticists to sign off on clinical reports.


Golden Helix just made a significant step in that direction by officially announcing VSClinical. This new product was funded by NIH grant 1R43GM128485-01. We are grateful for the fact that the  National Institute of General Medical Sciences agreed with our development and research plan and funded our work in this space. In addition, numerous labs around the world gave us valuable feedback on our development work. I’d like to thank the following people in alphabetic order: Dr. Abdallah Elias (Shodair Children’s Hospital, USA), Dr. Ahmed Alfares, King Abdul Aziz Medical City, Saudi Arabia),  Dr. Bailey Glen (Medical University of South Carolina, USA), Dr. Jim Weber (PreventionGenetics, USA), Dr. Qin Hae and Dr. Line Larsen (Amplexa, Denmark), Dr. Val Hyland (Pathology Queensland, Australia).

You can read the next part in this series by visiting Part II.

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