Biomarkers & Precision Medicine
Reading Your Genomic Report: A Patient Guide
Why genomic reports can feel overwhelming
Genomic reports often contain genes, variants, fusions, amplifications, tumor mutational burden, microsatellite instability, and therapy associations (Li MM et al., The Journal of Molecular Diagnostics, 2017). The report can be useful, but it is not a treatment plan by itself.
Key sections to understand
Patients should look for specimen type, tumor fraction or adequacy, actionable alterations, FDA-approved therapies, clinical trial matches, variants of unknown significance, and limitations of the assay (Mateo et al., ESMO Scale for Clinical Actionability of molecular Targets, Annals of Oncology, 2018).
Important questions
Ask your oncologist: Is this alteration driving my cancer? Is there an approved therapy for my diagnosis? Is the evidence from my cancer type or another cancer type? Are there resistance mutations? Does this qualify me for a trial? (Chakravarty et al., JCO Precision Oncology, 2017)
What not to do
Do not start supplements based only on a gene name. Human tumor genomics is not the same as consumer wellness genetics, and pathway assumptions can be misleading.
Practical takeaways
- A genomic report describes the tumour's biology; it is not a prediction of your future.
- Focus on the sections your oncology team uses: actionable alterations and clinical trial options.
- Variants of uncertain significance are common and usually do not change management.
- Do not use a tumour genomic report to select supplements — that is not what it is for.
How SANAVITA Health approaches this
SANAVITA Health provides physician-led integrative oncology education and support with a focus on clarity, safety, whole-person care, and collaboration. The goal is to help patients understand their options, reduce avoidable risk, and build a supportive plan that fits their diagnosis, treatment phase, values, and care team recommendations.
Research references
- Li MM, et al. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. The Journal of Molecular Diagnostics. 2017 https://doi.org/10.1016/j.jmoldx.2016.10.002
- Mosele F, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with advanced cancer in 2024: a report from the ESMO Precision Medicine Working Group. Annals of Oncology. 2024 https://doi.org/10.1016/j.annonc.2024.04.005
- Mateo J, et al. A framework to rank genomic alterations as targets for cancer precision medicine: the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). Annals of Oncology. 2018 https://doi.org/10.1093/annonc/mdy263
- Chakravarty D, et al. OncoKB: A Precision Oncology Knowledge Base. JCO Precision Oncology. 2017 https://doi.org/10.1200/PO.17.00011
- National Cancer Institute. Biomarker Testing for Cancer Treatment https://www.cancer.gov/about-cancer/treatment/types/biomarker-testing-cancer-treatment
