Helping Laboratories Interpret Clinical Genomics
QCI Interpret One provides labs with the best source of high-quality variant interpretation
Dan Richards, PhD, is vice president, global clinical product management, digital insights at QIAGEN where he focuses on the automated interpretation of molecular variation in the context of current clinical evidence. Dan earned his PhD in human genetics from Stanford University and co-founded Ingenuity Systems whose analysis applications and manually curated knowledge base of peer-reviewed scientific evidence are used by scientists worldwide to interpret genomic data in the context of current biomedical knowledge.
Q: How does QCI Interpret One support small and rural hospital labs’ approach to cancer genomics?
A: Across the US, many oncologists send out their cases to reference labs when they would prefer to have them tested and treated in a community context. One of the challenges of interpreting tumor sequencing data in a local clinical setting is that small and rural hospitals need access to a lot of rapidly changing practice guidelines for genomic medicine.
With QCI Interpret One, we have a curation workforce that reviews the new clinical literature and curates that information to provide community labs with an up-to-date view of actionable genetic variants, trials available in their area, and which drugs are recommend for a specific cancer diagnosis. This information enables them to produce a professional clinical report on par with what large reference labs produce, enabling small regional labs to offer clinical genetic testing and get reimbursed for it, fostering closer engagement with their local community of oncologists.
Q: What makes QCI Interpret One different from other clinical decision support software?
A: There are more than a thousand different cancer types with a wide variety of subtypes that are sequenced that have clinically actionable drug or trial options. Figuring out which variants are present in each patient usually occurs upstream of the clinical decision support software, but once you identify variants and genes, the clinical decision support software is needed to interpret which of those are clinically actionable or significant in a particular cancer type.
QCI Interpret One goes a step beyond what many clinical decision support softwares provide, in that it helps dynamically assess the current clinical significance of each of those variants in a specific cancer type. It does this by computing a classification or actionability for each variant that's detected in the tumor, so for each variant that may be clinically actionable, QCI both applies the American Molecular Pathology guidelines and the updated content from the Qiagen curation team, to determine whether a variant is clinically actionable.
Q: How are oncologists involved in the process of validating the clinical evidence in the interpretation summaries?
A: Qiagen has a group of oncologists with different expertise that help review content that our clinical scientists curated to develop “interpretive comments” that support the clinical significance of a variant. Those comments go through our oncologist review board to ensure quality and relevance in terms of what oncologists need. We provide these variant-specific, well-tailored comments to help labs without the staff to write up these interpretive comments get a good draft interpretive comment that they can review and use on the report or edit as they see fit.
Q: What kind of input data is required for QCI Interpret One to process and interpret different types of variants?
A: The QCI Interpret One system can take in the variant call file format, which is the standard used for representing the genetic variants that are detected from NGS. But for other technologies like PCR assays that detect specific fusions or copy number variations, those can also be input through a separate metadata file.
Q: How can QCI Interpret One help patients find clinical trials?
A: Clinicians can provide the patient’s ZIP code to customize the selection of clinical trials to include ones that are currently open and recruiting nearby. The results can also be filtered based on the patient’s particular genetic profile and whether they meet a trial’s eligibility criteria. For example, many new precision medicine trials require patients to have certain cancer mutations or lack certain drug resistance mutations. And those types of considerations are all automatically verified by QCI Interpret One.