Mayo Clinic launched its first solid tumor next-generation sequencing (NGS) assay in 2014, and genetic counselors’ (GCs) input and expertise in somatic oncology quickly became invaluable (for a snapshot of this history, check out a previous article). A decade later, as our understanding of somatic mutations in cancer continues to grow, so has the demand for more complex and comprehensive testing. 

Consider a patient with metastatic breast cancer whose tumor sequencing revealed a somatic PIK3CA mutation. This result makes them eligible for an FDA-approved targeted therapy, an option they would not have had based on traditional pathology alone. Targeted treatment often leads to a meaningful clinical response, underscoring how somatic testing can transform patient outcomes. This is why many tumor-specific NCCN (National Comprehensive Cancer Network) guidelines now recommend biomarker testing, and a growing number of FDA-approved targeted therapies have made solid tumor testing the standard of care in oncology. Biomarker results optimize patient care by providing clinicians with essential diagnostic, prognostic, and therapeutic information, all of which rely on accurate detection, classification, and interpretation of somatic alterations. 

These advances led to the rapid expansion of our somatic oncology test menu and the subsequent addition of team members. Furthermore, the increase in order volume and interpretive nuances has also necessitated the development of workflows distinct from our hereditary-focused colleagues. Today, our somatic team, which consists of seven GCs and two variant scientists, is the largest in our work unit. We now support 38 assays with several more tests currently in development. Our team has continued to grow, and we foresee further expansion, despite the recent volatility of the laboratory genetics job market (Stoll, 2022). 

Our Role in Somatic Oncology

As somatic oncology-focused laboratory GCs, we play an integral role in variant curation and report writing for tumor-based molecular testing. Most importantly, we drive our lab’s initiatives to scale reporting workflows and meet the demands of increasing volumes. Our GCs lead a multidisciplinary committee that reviews and creates reporting comments and automates reporting workflows; co-own IT tools such as internal knowledge bases and external reporting platforms; teach genetic counseling students, medical residents and fellows; and serve as liaisons between lab directors, technical specialists, test developers and IT specialists. We also play a role in test development, requiring a thorough understanding of testing methodologies, limitations, clinical implications of results and reporting workflows that must meet rapid turnaround times.

Training and Challenges 

For GCs entering the field of somatic oncology, there is no clear training pathway. Many have either not considered entering this space or are unaware roles like this exist. Background knowledge of somatic oncology, including tumor profiling and somatic variant curation, is not routinely covered in genetic counseling training programs, leaving many GCs to learn on the job. Even GCs who came to this role at our organization with a laboratory background felt out of their depth with prior experience focused on hereditary genomics, test utilization, results counseling, marketing and client support. None of these tasks are a significant part of our current role. Despite this, we share a commitment to advancing the field of laboratory genomics, upholding the value of personalized medicine, and learning new skills in an ever-evolving environment, from deciphering FDA labels to the intricacies of tumor testing methodologies. While the lack of formal training can make this role intimidating, it also presents a unique opportunity for professional growth. 

While GCs have a history of pioneering nontraditional roles, somatic oncology presents unique challenges. With increasing demand for somatic oncology testing, the systems and tools required to manage these tests are under significant pressure. Historically, IT tools were designed with hereditary genetics in mind, making it difficult to integrate alternate variant classification guidelines. Building and selecting new tools must allow for scalability of workflows and flexibility to accommodate rapidly changing guidelines and recommendations from professional organizations, such as the Food and Drug Administration, the Association for Molecular Pathology, the American Society of Clinical Oncology, the College of American Pathologists and the World Health Organization. Another challenge is balancing the need for personalized reporting with the drive for standardization. Personalization in somatic oncology reporting ensures that findings are relevant to each patient’s unique clinical situation, yet achieving standardization across a wide range of assays and platforms is necessary for operational efficiency. GCs must navigate these competing demands while supporting clinicians in delivering timely, actionable insights.

What Is Next for Our Team?

Looking ahead, GCs must continue adapting their expertise to strike a balance between variant interpretation solely for therapeutic and prognostic purposes versus reporting variants with potential hereditary implications. This balance requires adherence to professional guidelines and careful judgment, as the role of somatic mutations in cancer therapy becomes increasingly intertwined with hereditary considerations, and as paired tumor-normal testing becomes more widely available. Additionally, our diverse skillset and understanding of health care systems may allow expansion of our role to billing and marketing of somatic tests as they become better integrated into oncology care. This expansion will further enhance our value to laboratory clients and oncology clinicians.

Our experience reflects the GC profession’s adaptability in taking skills gained in graduate school training and transforming them to meet the expanding needs of both patients and the health care field. While the exact roadmap may not be clear, the role of GCs in somatic oncology is here to stay. Our unique expertise and drive to learn ensure we will continue to shape the future of oncology and patient care. As oncology precision medicine advances, we may need to draw on our hereditary skills once again, bringing full circle our unique path as GCs. 

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