About this Research Topic
Precision medicine as a general concept has been the ultimate goal of all medical care since its inception- the idea that specific remedies are appropriate for optimal care of a given patient's condition. However, the rise of the discipline of molecular/genetic medicine in tandem with the field of molecular pathology has given birth to the precision medicine as a specific term in oncology where the specific tumor or host genetic information is used in prevention, diagnosis, risk stratification, and in the tailoring of therapy for cancer. With the advent of next-generation sequencing (NGS), large-scale interrogation of a wide range of loci in support of precision medicine has become increasingly commonplace.
This issue marks a critical time in cancer precision medicine. While NGS has previously been in the scope of practice of only select large academic centers and few commercial entities, it is now widespread and cancer patients throughout the world are clamoring for their tumors to be profiled. Concomitantly, the number of applications to which molecular profiling can be applied is burgeoning. NGS is used not only for the identification of single hotspot mutations, but for structural variants, copy number analysis, clonality, minimal residual disease detection, and mutational patterns such as total tumor mutational burden, mismatch repair deficiency, or DNA damage response. Yet, there is no clear standardization between methods. According, when patients bring their molecular genetic information with them at time of referral to an oncologist, as is increasingly the practice, clinicians now are forced to interpret and potentially act upon data from unfamiliar laboratories, assays, and bioinformatic pipelines. In many cancer practices, such as those in the community or in less populated regions, this data is entirely externally generated.
Therefore, this Research Topic has 3 key goals:
1) to introduce many novel applications of NGS and cancer precision medicine
2) to raise awareness of the many pitfalls in the interpretation of NGS data, in particular, the strengths and weaknesses of bioinformatic pipelines
3) to discuss how NGS data is reaching and being utilized in populations outside of large academic centers.
This Research Topic will demonstrate the breadth, depth, and limitations of cancer precision medicine today.