The medical genetics laboratory at Tor Vergata Hospital works with samples that come directly from patients with rare phenotypes. It is their responsibility to analyse the NGS samples they receive and work to find a diagnosis for these cases - with the ultimate aim of informing the patient or clinical team with additional information about the genetic information they receive.
The information they provide is reported back to the hospital and ultimately allows the clinical team to confirm a diagnosis, understand the need to perform further assessments, or better understand potential treatment options for certain patients. Being able to perform their analysis in an efficient and timely manner ultimately minimises the time between sample collection and actionable insights - importantly accelerating the decision-making processes for the clinical team, preventing bottlenecks and allowing the lab to handle a higher volume of tests without compromising quality.
Challenge:
Overcoming the time consuming analysis steps in the variant interpretation workflow
At Tor Vergata University Hospital in Rome, NGS is essential for clinical molecular diagnostics. While NGS brings considerable advantages, there are numerous challenges of using NGS in a clinical context. The workflow and results interpretation are notably complex, often requiring a high level of expertise and lengthy analysis. Significant informatics challenges frequently arise during the analysis and clinical reporting phases, necessitating robust data quality control, management, and analysis strategies. Moreover, the long-term storage and retrieval of vast amounts of NGS data pose logistical and technical challenges, impacting the overall efficiency of genetic diagnostics.
Solution:
Enter AION - An AI-based tool for clinical variant interpretationThe team at Tor Vergata have used numerous solutions for variant interpretation over the years, but decided to utilise AION - Nostos Genomic’s AI-based solution for their clinical variant interpretation. Initially impressed by the user-friendly interface of AION, it not only facilitated easy adoption within the team - minimising the need for extensive training - but it quickly became an integral part of their interpretation workflow. Enabling them, via the AI-driven variant classification and prioritisation capabilities, to reduce the time required to identify variants and diagnose cases, simplifying the handling of complex data and alleviating the burden on clinical researchers:
Rapid:
• The AION variant shortlist is the fastest way to get your team to the relevant variants within just 5-10 minutes – with our variant and disease prioritisation using HPO terms
Reliable:
• The software complies with stringent regulatory standards, including CE-IVDR, ISO 13485:2016, IEC 62304:2006, ISO 14971:2019, and IEC 62366-1:2015, ensuring quality, safety, and usability
• Nostos Genomics prioritises data privacy and protection, adhering to the EU's General Data Protection Regulation (GDPR) with a comprehensive data governance program, and supported by ISO 27001 (HDS) compliant infrastructure for data security
Customisable and simple to use:
• Our team works hard to tailor the platform to your needs with support for your existing variant databases, integrating into existing workflows, APIs, and more
Scalable:
• Our cloud-based platform is proven to work especially well with large files and volumes – WES, WGS and high-volume screening
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