Table 1.
Summary of decision support tool features
| Roche NAVIFY Mutation Profiler | QIAGEN QCI Interpret | CureMatch Bionov | |
| Platform | Web application | Web application | A HIPAA and GDPR compliant web-based application available to users |
| Data input format | VCF | VCF | Annotated patient report (PDF) |
| Considers clinical characteristics such as prior treatment lines, comorbidities, medical history | No | No | Yes (if provided by the user) |
| Analysis of SCNAs | Yes, manual entry (segment information optional) | Yes, manual entry | Yes |
| Variant filtration | VCF filtered on user-defined assay parameters | VCF filtered on user-defined assay parameters | Filtration done in lab prior to submission |
| Variant classification | AMP guidelines | Mixed ACMG/AMP guidelines | Lab-specific guidelines for annotating variants and determining pathogenicity |
| Inclusions of VUSs in report | Yes | Yes, but not by default | Yes |
| Treatment suggestions | Based on individual variants | Based on individual variants | Combination therapies based on entire molecular profile |
| Recommendation of combination therapies | Yes, only tumour-specific recommendations for established tier I variants | Yes, only tumour-specific recommendations for established tier I variants | Yes |
| Suggestion of clinical trials | Yes, can adjust for location | Yes, shows currently enrolling studies involving variant | Provides clinical trial information as evidence for the recommended combinations |
| Variables considered for clinical trial matching | Age, sex, user-defined location, tumour type, molecular alteration, treatment | User-defined location, tumour type, molecular alteration, treatment | |
| Off-label suggestions | Yes | Yes, but not by default | Yes |
| Report reviewed by external clinical team | No | No | Yes |
| Virtual molecular tumour board option | Only in combination with other NAVIFY products in portfolio (NAVIFY Tumor Board) | No | Yes |
| Estimated time to generate report* | 30–45 minutes† | 30–60 minutes† | 48–72 hours‡ |
*Estimation is based on our experience only with the data used in this study. Time for report generation varies for each case and is dependent on user experience, the number of aberrations reported and the end user’s analysis strategy.
†Includes data upload and hands-on time.
‡Vendor estimate of turnaround time for report generation (analysis performed by vendor).
ACMG, American College of Medical Genetics and Genomics; AMP, Association for Molecular Pathology; GDPR, General Data Protection Regulation; HIPAA, Health Insurance Portability and Accountability Act; QCI, QIAGEN Clinical Insight; SCNAs, somatic copy number alterations; VCF, variant call format; VUS, variant of unknown significance.