From Sample to Insight: Technologies Driving the Future of Precision Oncology Assays
Perspective ... Nature, Nurture, and Diagnostics: Time to Move Beyond the Genome Genomics technologies, while powerful, are not sufficient to bring precision medicine into routine clinical practice By Manish Arora, PhD
in clinical trials, potentially accelerating drug discovery and development. Biomarkers have been particularly important in rare diseases and oncology. Next-generation sequencing has helped identify individual patients’ unique diseases, directed them to treatment, and isolated potential therapeutic targets for further study. Unfortunately, for other conditions, precision medicine theory and disease reality have yet to match up. In many cases, effective biomarker tests do not exist. This is particularly true for neurolog- ical conditions, such as autism spectrum disorder, where observational tools like questionnaires are still being used in the evaluation process, relying on subjective assessments rather than objective, measurable factors. Without the necessary diag- nostics, clinicians and researchers can easily access essential data and the presence of disorders, delaying treatment. This creates a slow, cumber- some, and inefficient therapeutic progress. Against this backdrop lies another more serious question: Will genomic (or transcriptomic or proteomic) testing provide all the necessary information we need to truly implement preci- sion medicine? The short answer is no. The long
I n theory, precision medicine is a relatively straightforward concept. Clinicians use advanced techniques like genomic sequencing to identify disease-related biomarkers and develop a personalized treatment plan tailored to the individual’s unique genetic and molecular profile. These biological elements can help them rapidly diagnose a patient’s disease and direct them to the most effective therapies. This approach differs from the traditional “one-size-fits-all” method, where each disease is treated with a preset recipe of interventions without regard to what makes each patient unique. In the bigger picture, biomarker-based tests can also help identify the right patients to include
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