Cartagenia, leader in providing clinical genetics and pathology labs with variant assessment & reporting support software, announced it is releasing an upgrade of its Bench Lab NGS software platform. The platform now enables labs to implement the recently released ACMG/AMP recommendations for standards and guidelines on the interpretation of sequence variants. In a recent paper, the American College of Medical Genetics and Genomics published standards and guidelines as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory services.

The Bench Lab NGS software now includes a framework for labeling and scoring variants based on criteria and levels of evidence put forth in the ACMG paper. Labs can put together a variant assessment pipeline that represents their own implementation of the ACMG guidelines.

Dr Berivan Baskin, clinical molecular geneticist at the Molecular Genetics Laboratory of Uppsala University Hospital, Sweden, commented: “I’m very pleased with the way I can build variant assessment workflows now. We were able to translate the key elements of the ACMG guidelines into an automated pipeline that works very well in our routine setting. The recommendations represent the state-of-the-art in the clinical genetics community. Being able to implement them efficiently makes us confident we are providing the best possible quality to our referring physicians.”