Next-generation sequencing, bolstered by powerful data analytics and the clinical interpretation of genetic variants in a patient’s cancer, is on the cusp of transforming healthcare. We are at a watershed moment in medical history, comparable to the discovery of microorganisms, the development of vaccines, and the creation of antibiotics.
Precision medicine promises a paradigm shift in care delivery, one that removes the need for guesswork, variable diagnoses, and treatment strategies based on generalized demographics. Consider the tumor, for example. Once believed to be a uniform mass of malignancy, the tumor is now known to have tremendous genetic diversity, driven by a wide range of genetic mutations. Scientists continue to identify more and more of these mutations, which is crucial to the development of more targeted, and potentially much more effective, therapies. With therapies that go after mutations at the molecular level, there will inherently be better patient outcomes.
Yet, the progress of precision medicine now depends largely on getting data from discoveries into the hands of the doctors on the front lines of patient care. This is where QIAGEN Clinical Insight™ (QCI) is leading the way for predictive and preventative care. Below is a list of five trends shaping the precision medicine transformation and how QCI is tackling each challenge and opportunity.
Later-stage melanoma, colorectal, and lung cancer patients are now routinely offered DNA-based molecular diagnostic, theranostic, and prognostic tests. With the commonality of molecular diagnostic testing, numerous medical institutions are attempting to develop in-house testing capabilities. QCI enables molecular diagnostic labs and healthcare providers to develop and operationalize scalable, compliant, and secure molecular and genomic data analysis, interpretation, and reporting solutions to implement genomics-guided clinical decision support at the point of care.
Understanding the differences in genomic results between different tumor profiling approaches will become increasingly important as the cancer genome is leveraged to stratify patients for new therapeutic strategies. However, the translation of results by community oncologists remains a major hurdle in the stratification of cancer into subtypes. A unique capability of QCI is the ability to recognize and interpret genetic factors that span multiple variants. Unlike alternative approaches that interpret a patient’s genetic profile on a variant-by-variant basis, QCI Interpret assesses the genetic profile in its entirety, matching combination variants that can influence the selection of an appropriate treatment or clinical trial.
Recent literature signals a growing paradigm shift toward integrating therapeutics and diagnostics, rather than developing them separately. In this gradual move toward more effective and personalized medications, “theranostics” is expected to increase response rates and improve patient outcomes. Yet, we continue to see variability in targeted therapy and trial matching. The QCI platform is a potent tool that evaluates genomic variants comparing them with published biomedical literature, professional association guidelines, publicly available databases and annotations, drug labels, and clinical trials. With QCI, clinicians will be able to rapidly classify variants, identify treatment options, and perform geographical clinical trial matching.
“Interpretation” remains the rate-limiting factor for the adoption and benefits of genomics-guided clinical decision support at the point of care; but, labs continue to invest a majority of their time and resources in instrument and assay selection. QCI shifts the focus from instrumentation to insight, catalyzing the rate of discovery and deployment of precision medicine capabilities. QIAGEN has developed the only publically available, industrial-scale, clinical-grade technology platform that can cost-effectively enable this capability for NGS testing laboratories. Thanks to an army of expert PhD curators, the QIAGEN Knowledge Base allows physicians and oncologists to develop patient-specific recommendations in the context of over 13 million relevant biomedical findings.
A recent U.S. Food and Drug Administration working group identified the need for improving standards of automated clinical NGS analysis, interpretation, and reporting policies. Widespread adoption of these guidelines will enhance communication between molecular pathologists, oncologists, and geneticists, as well as enhance patient care. QCI assists with the standardization of NGS analytical workflows by supporting virtually any clinical testing laboratory in developing and implementing a robust production pipeline for its cancer patient population.
Like nearly all aspects of healthcare, reaching the full potential of precision medicine will require collaboration among multiple players and a shift in current thinking: from information to insight. QCI is designed to fit into the clinical care workflow, which simplifies the adoption of precision medicine by delivering high-quality, scientific research to the bedside to improve patient care and outcomes.
By advancing the pace of precision medicine with QCI, any organization can harness the power of precision medicine to improve population health worldwide.
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