--- title: Automated variant classification workflows in a rare disease laboratory description: Helen Savage presented a poster at Rady’s Frontiers in Pediatric Genomic Medicine highlighting the case for automating standardised analysis of cases.  image: https://blog.congenica.com/hubfs/Canva%20images/auditing%20th%20impact%20of%20automating%20variant%20classifiaction.png --- - [Our Customers and Partners](http://www.congenica.com/our-customers) - [Our Product Portfolio](http://www.congenica.com/congenica-products) - **Inherited Diseases** - [Rare Disease](http://www.congenica.com/congenica-rare-disease) - [Inherited Cancer](http://www.congenica.com/congenica-inherited-cancer) - [Prenatal Health](http://www.congenica.com/congenica-prenatal) - [Carrier Screening](http://www.congenica.com/congenica-carrier-screening) - [Neurodevelopmental Disorders](http://www.congenica.com/congenica-neuro) - **Somatic Oncology** - [Solid Tumours](http://www.congenica.com/congenica-oncology) - **Pathogen** - [Pathogen Surveillance](http://www.congenica.com/congenica-pathogen-surveillance) - [Our Services](http://www.congenica.com/congenica-services) - [Clinical Interpretation Services](http://www.congenica.com/congenica-clinical-interpretation-services) - [Professional Services](http://www.congenica.com/professional-services) - [Customer Support](http://www.congenica.com/customer-support) - [Pharma Services](http://www.congenica.com/pharma-services) - Resources - [Publications](http://www.congenica.com/publications) - [Supporting materials](http://www.congenica.com/resources) - [News](https://blog.congenica.com/) - [Events and webinars](http://www.congenica.com/events-webinars) - [About us](http://www.congenica.com) - [Leadership Team](http://www.congenica.com/leadership) - [Quality](http://www.congenica.com/quality) - [Investors](http://www.congenica.com/investors) - [People and Vacancies](http://www.congenica.com/people) - [Contact us](http://www.congenica.com/contact) Login ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) [Overview](https://blog.congenica.com) [Automated variant classification workflows in a rare disease laboratory](https://blog.congenica.com/automated-variant-classification-workflows-maintain-quality-standards-support-standardisation-and-reduce-turn-around-times-in-a-rare-disease-laboratory) ![Automated variant classification workflows in a rare disease laboratory](https://blog.congenica.com/hubfs/Canva%20images/auditing%20th%20impact%20of%20automating%20variant%20classifiaction.png) Blog Clinical Cases genomics # Automated variant classification workflows in a rare disease laboratory 4/28/2021    |    0 min read ### Automated variant classification workflows maintain quality standards, support standardisation and reduce turn-around times in a rare disease laboratory   Helen Savage, Lead Clinical Scientist, Product Innovation, at Congenica, presented a poster at Rady’s Frontiers in Pediatric Genomic Medicine that highlights the case for automating standardized analysis of cases.   [![Automation_poster_Radys ](https://blog.congenica.com/hs-fs/hubfs/HS%20poster%20radys%20snapshot.png?width=1283&name=HS%20poster%20radys%20snapshot.png)](https://blog.congenica.com/hubfs/H%20Savage%20poster%20-%20Frontiers%20in%20Paediatric%20Genomic%20Medicine%202021.pdf) [![View the poster](https://no-cache.hubspot.com/cta/default/6863388/073743bd-9efa-41f2-a720-f68b3bea553d.png)](https://cta-redirect.hubspot.com/cta/redirect/6863388/073743bd-9efa-41f2-a720-f68b3bea553d)   As demand for genomic testing increases, driven by greater accessibility and falling sequencing costs, variant analysts are encountering increasingly complex patients in addition to their routine cases. While increased access to testing is to be celebrated, 71% of clinical laboratories report to be at, or near, capacity.    Automated processes are commonplace in the diagnostic laboratory; from liquid-handling robotics to automated bioinformatics pipelines processing large volumes of data. However, due to the complex nature of interpretation there has been resistance to increase the use of automation in this part of the diagnostic process, despite up to 70% of causal variants recurring in multiple patients.     As unsupported manual interpretation is not a scalable solution, Helen asks, ‘Is it time to embrace automation of pre-classified variants, to provide the genomics workforce with more time to diagnose the most complex cases, so that no patient is left behind?’  For more information about Congenica clinical decision support software for rapid and reliable interpretation of complex genomic data visit [www.congenica.com/platform](http://www.congenica.com/platform)   [![Demo Congenica](https://no-cache.hubspot.com/cta/default/6863388/a85d59d2-864a-433e-9615-f88393ae9653.png)](https://cta-redirect.hubspot.com/cta/redirect/6863388/a85d59d2-864a-433e-9615-f88393ae9653)   --- ### Related articles ![Congenica secures new two-year contract with Hong Kong Genome Project](https://blog.congenica.com/hs-fs/hubfs/Untitled%20design%20-%202023-10-04T140704.962.png?width=320&height=192&name=Untitled%20design%20-%202023-10-04T140704.962.png) 10/4/2023 #### [Congenica secures new two-year contract with Hong Kong Genome Project](https://blog.congenica.com/congenica-secures-new-two-year-contract-with-hong-kong-genome-project) Congenica announces a two-year extension to their contract with the Hong Kong Genome Project (HKGP). ![Congenica co-founder Professor Richard Durbin awarded the 39th International Prize for Biology](https://blog.congenica.com/hs-fs/hubfs/Add%20a%20title%20(2).png?width=320&height=192&name=Add%20a%20title%20(2).png) 9/5/2023 #### [Congenica co-founder Professor Richard Durbin awarded the 39th International Prize for Biology](https://blog.congenica.com/richard-durbin-awarded-39th-international-prize-for-biology) Congenica Informatics Director Richard Durbin has been awarded the International Prize for Biology by the Japan Society of the Promotion of Science. ![The Road to Diagnosis: How Genetics Transforms the Lives of Rare Disease Patients](https://blog.congenica.com/hs-fs/hubfs/Untitled%20design%20(8).png?width=320&height=192&name=Untitled%20design%20(8).png) 2/24/2023 #### [The Road to Diagnosis: How Genetics Transforms the Lives of Rare Disease Patients](https://blog.congenica.com/the-road-to-diagnosis-how-genetics-transforms-the-lives-of-rare-disease-patients) In recognition of Rare Disease Day, Congenica looks at the importance of a genetic diagnosis for patients and asks, what's next for rare disease? ##### Congenica is available as a CE Marked IVD clinical decision support platform for clinical diagnostic use for inherited genetic disorders in the UK and EU, Iceland, Lichtenstein, Norway, Switzerland and Turkey. In all other countries, ensuring compliance with relevant local, national and international clinical laboratory regulations is the responsibility of the laboratory. - [Privacy Policy](http://www.congenica.com/privacy-policy) - [Cookie Policy](http://www.congenica.com/cookie-policy) Log in to Congenica ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) ![CE](https://blog.congenica.com/hs-fs/hubfs/CE.png?width=80&height=80&name=CE.png) ![ISO-27001](https://blog.congenica.com/hs-fs/hubfs/ISO-27001.jpg?width=80&height=80&name=ISO-27001.jpg) ![TR-Testmark_9000030872_EN_2024_CMYK](https://blog.congenica.com/hs-fs/hubfs/2023%20website%20images/TR-Testmark_9000030872_EN_2024_CMYK.png?width=80&height=80&name=TR-Testmark_9000030872_EN_2024_CMYK.png) ![HIPAA Compliant](https://blog.congenica.com/hs-fs/hubfs/HIPAA%20Compliant.png?width=80&height=80&name=HIPAA%20Compliant.png) Copyright © 2026 Congenica Ltd. Company number: 8273616 Registered in England and Wales.