Personalized Bringing the Promise of Personalized and Precision Medicine (PPM) to Rare and Orphan Disorder Care: The Future of PPM through the View of Biodesign-inspired Hi-Tech Philosophy, Upgraded Mentality and Global Needs of the Consumers

A new systems approach to diseased states and wellness result in a new branch in the healthcare services, namely, personalized and precision medicine (PPM). The concept of PPM is becoming increasingly relevant for cancer treatment, moving from the ‘one-size-fits-all’ standard therapy to a more personalized scheme guided by molecular diagnostics. A comprehensive molecular tumor analysis integrating a combination of NGS methods including whole-exome (WES), whole-genome (WGS) and transcriptome sequencing (RNAseq) offers the best chance for personalizing cancer care, enlarging the scope of therapy choices and offering potential new options for challenging cases, for instance metastatic tumors, rare cancer types, and cancers of unknown primary. Cutting-edge bioinformatics pipelines integrate the multiple data levels to con-struct Big Data and Data Sets and to generate a personalized tumor report. One key asset of this so-lution is the use of whole transcriptome data as a booster enhancing the sensitivity and information content of the diagnostic, predictive and prognostic tests. Up to now personalized and precision on-cology has been largely relying on identifying key mutations in the tumor DNA by means of panel sequencing, a method scanning only designated cancer gene targets. Though the panel approach helps to orientate therapy choices for particular cancer types, many “hard to treat” tumors remain in need of more effective diagnostic solutions. The improvement of methodology for OMICS-based (i.e., genomic) testing has made it one of the cornerstones of PPM-driven cancer clinical practice, which would incorporate various genomic, pro-teomic and other assays of human cancers into diagnostic, predictive, prognostic, and decision-making algorithms. A consolidated team of molecular pathologists, IT experts and cancer practition-ers of the next step generation are becoming to play a crucial role in developing and implementing OMICS-based profiling tests in practice and communicate the results and their relevance with clini-cians. Such approach is considered to be of utmost importance for successfully translating the latest advancements into a benefit to patients, illustrating a generation of the “next-generation cancer pathologists, cancer-related practitioners and oncologists globally”. Another essential aspect in which the cancer-related pathologists and practitioners play a crucial role is developing and implementing OMICS-based tests being integrated with the frame of IT algo-rithms, in clinical oncology and communicating the obtained results with other diagnostic and thera-peutic disciplines (e.g., microbiology, clinical enzymology, genetics, immunology, etc) and clini-cians.