Table 1 Example of MTB workflow
| Â | Work item | Work details |
|---|---|---|
I | Assign biological significance to the genetic abnormality (e.g., whether it contributes to the acquisition of a particular trait, such as oncogenic potential). | Focusing on variants whose pathological significance is judged differently in laboratory company reports and C-CAT survey results, the registration statuses of the Gene Polymorphism Database (gnomAD), Somatic Mutation Database (COSMIC), and ClinVar will be checked to determine their pathological significance. |
II | Interpretation of genetic evidence for diagnosis and prognosis. | Search public databases (CIViC, OncoKB, etc.) and literature for information on diagnosis and prognosis. |
III | Attach a specific candidate drug and level of evidence corresponding to the genetic abnormality after considering basic patient information (cancer type) | Focus on drugs listed in laboratory company reports and C-CAT survey results, and search public databases (CIViC, OncoKB, etc.) and literature to confirm the level of evidence based on the latest findings. |
IV | When germline gene abnormalities are recognized (or suspected), the significance and response should be discussed in accordance with relevant guidelines, guidance, and recommendations. | Consider significance and response based on guidelines, guidance, and recommendations related to secondary findings. |
V | After considering basic patient information including previous history of chemotherapy, specific candidate drugs and evidence levels corresponding to the genetic abnormality, as well as their approval status and clinical trial status, should be investigated. | Review the list of clinical trials being conducted at the hospital and consider whether to enroll the patient in the relevant clinical trial. |
VI | If necessary, consider whether any of the candidate drugs listed in IV can be recommended, considering the patient’s condition, availability, etc. | Check the pathological significance of each gene, level of evidence for the drug linked to the genetic mutation, and availability of the drug. |