Transforming Patient Care through Advanced Variant Reevaluation
In clinical genetics, the accurate classification of genetic variants as benign, variants of uncertain significance (VUS), or pathogenic is pivotal for appropriate patient management. Over time, as genetic research progresses and our understanding deepens, previously established variant classifications often need revisiting. This dynamic landscape of variant classification is underpinned by the ongoing discovery of new genetic data and improved computational methods, which can lead to significant changes in how variants are perceived and managed clinically.
Frequent reassessments of previously-determined variant classifications for all historical cases is nearly impossible without the aid of cutting-edge technology.
The Challenge of Keeping Pace with Genetic Science
The ClinVar database, a critical resource in genetic diagnostics, undergoes frequent updates to reflect new scientific insights. These updates can lead to changes in the classification of genetic variants. For example, a recent study found that of the variants initially classified as pathogenic or likely pathogenic in ClinVar, 40% were later downgraded to benign, likely benign, or VUS, highlighting the dynamic nature of genetic data interpretation (Xiang et al., 2020).
These reclassifications are more than academic updates; they have substantial implications for patient treatment plans. Recognizing a benign variant as pathogenic can lead to critical interventions, potentially saving lives, whereas reclassifying a pathogenic variant as benign can spare patients from unnecessary and invasive procedures.
Introducing GenomeAlert! by SeqOne
GenomeAlert! is not just a tool; it’s an automated variant reevaluation agent developed in collaboration with geneticists and our customers. This automated agent reanalyzes historical patient cases by referencing the latest updates in the ClinVar database. It employs an additional layer of automated curation to filter out discrepancies, ensuring that only the most reliable data is brought back for re-evaluation.
Streamlined Process for Maximum Time-Saving
Our system is designed for efficiency:
- Fully automatic monthly reviews: All past patient cases are automatically reassessed monthly against the latest genetic data.
- Actionable reports: The system generates user-friendly reports that highlight candidates for new diagnostics and revoked diagnoses. These reports allow biologists to quickly update clinical decisions based on the most current, validated genetic interpretations.From the report, in just one click the biologist can access the information source, the patient case, and decide whether the original diagnostic needs an update.
Watch GenomeAlert! in Action
See firsthand how our system updates genetic variant classifications, streamlining the integration of new genetic insights into clinical practice.
SeqOne is committed to continuous improvement and innovation to improve patient care.
We are working to make GenomeAlert! available to all diagnostic labs, regardless of the bioinformatic platform they currently use.
If you’re interested in learning more about GenomeAlert! or would like a free trial of the SeqOne platform, reach out at contact@seqone.com.
For more information on the scientific foundation behind GenomeAlert!, refer to our peer-reviewed article: Yauy, Kevin, et al. “Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine.” Genetics in Medicine 24.6 (2022): 1316-1327.
About SeqOne
SeqOne is a leading European provider of AI-powered software for next-generation sequencing (NGS) data analysis in oncology and rare diseases. Its cloud-based platform transforms complex genomic data into fast, precise, and actionable insights, supporting molecular labs in delivering life-saving diagnoses and treatments. The SeqOne Platform is a CE-IVD Class C certified under IVDR in vitro diagnostic medical device. Driven by the vision of personalized medicine for every patient, everywhere, SeqOne is scaling the future of genomic medicine—one lab at a time.
For more information, visit seqone.com.
