Abstract
In recent years, with the advancement of next-generation sequencing (NGS) technology, gene panel tests have been approved in the field of cancer diseases, and approaches to prescribe optimal molecular target drugs to patients are being developed. In the field of rare diseases, whole-genome and whole-exome analysis has been used to identify the causative genes of undiagnosed diseases and to diagnose patients’ diseases, and further progress in personalized medicine is expected. In order to promote personalized medicine in the future, we investigated the current status and progress of personalized medicine in disease areas other than cancer and rare diseases, where personalized medicine is most advanced. We selected rheumatoid arthritis and psoriasis as the inflammatory disease, in addition to Alzheimer’s disease. These diseases have high unmet needs for personalized medicine from the viewpoints of disease mechanisms, diagnostic biomarkers, therapeutic drugs with diagnostic markers and treatment satisfaction. In rheumatoid arthritis and psoriasis, there are many therapeutic options; however, diagnostic methods have not been developed to select the best treatment for each patient. In addition, there are few effective therapeutic agents in Alzheimer’s disease, although clinical trials of many candidate drugs have been conducted. In rheumatoid arthritis and psoriasis, further elucidation of the disease mechanism is desired to enable the selection of appropriate therapeutic agents according to the patient profile. In the case of Alzheimer’s disease, progress in preventive medicine is desired through the establishment of an early diagnosis method as well as the research and development of innovative therapeutic agents. To this end, we hope for further research and development of diagnostic markers and new drugs through progress in comprehensive data analysis such as comprehensive genomic and transcriptomic information. Furthermore, new types of markers such as miRNAs and the gut microbiome are desired to be utilized in clinical diagnostics.
Highlights
Personalized medicine refers to medical treatment that takes into account the factors such as genetic background and disease status of each individual patient and selects the most appropriate treatment and therapeutic agent
The following three diseases were selected for the survey: rheumatoid arthritis, which is an inflammatory disease for which antibody drugs and JAK inhibitors are being developed; psoriasis, for which IL-17 antibodies and PDE4 inhibitors, in addition to TNFα and IL-12/23 antibodies, have been discovered in recent years, expanding the scope of treatment; and Alzheimer’s disease, for which the elucidation of disease mechanisms and the development of diagnostic methods and therapeutic agents are currently being actively pursued
As biomarkers characteristic of Alzheimer’s disease (AD), a decrease in the ratio of Aβ42/Aβ40 in cerebrospinal fluid (CSF) that reflects the deposition of amyloid β protein (Aβ) in the brain, amyloid imaging using positron emission tomography (PET), p-tau in CSF, and tau imaging using PET, which reflect the accumulation of tau in the brain, and t-tau, NfL, etc. in CSF, which reflect neurodegeneration, are shown
Summary
Personalized medicine refers to medical treatment that takes into account the factors such as genetic background and disease status of each individual patient and selects the most appropriate treatment and therapeutic agent. It is expected that therapeutic agents corresponding to the discovered genetic mutations will be advanced and the disease mechanism will be further elucidated [9,10]. Such a comprehensive cancer panel test can be used to attempt to evaluate the therapeutic effect of drugs such as crizotinib and alectinib for lung adenocarcinoma on specific fusion gene-positive patients in a different carcinoma (basket study), or to select an appropriate drug from multiple investigational drugs for a specific carcinoma using the results of the panel test (umbrella trials) [11]. For undiagnosed diseases for which the causative gene has not yet been determined, NGS is desired to make a significant contribution to the progress of this research for diagnosis
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