In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.
*Genetic Markers ; Genetic Predisposition to Disease ; Genetic Testing ; Genome, Human ; Humans ; Individualized Medicine ; Models, Statistical ; *Molecular Epidemiology ; *Pharmacogenetics ; Risk Assessment

No abstract available.
Precision Medicine*

The concept of “precision medicine” has been a mainstay in discourses about the future of medicine, although it was not until the completion of the Human Genome Project that genetic associations to Mendelian diseases have risen dramatically. Since genetic variations in most (85%) monogenic or oligogenic diseases reside in exons, whole-exome sequencing (WES) serves as a pivotal tool in the identification of causative variants in genodermatoses and other diseases, leading to efficient and timely diagnosis. Here, we share our current diagnosis protocol for genodermatoses using WES as a first-tier solution. Two cases are presented to demonstrate the process of identifying germline variants and one case for a somatic variant. In the first case, a germline missense mutation in COL7A1 (exon73:c.G6127A) was identified for a patient that presented with clinical symptoms of dystrophic epidermolysis bullosa (DEB). Immunofluorescence study revealed decreased collagen VII expression in the dermal-epidermal junction. In case 2, we detected a germline missense mutation in KRT16 (exon1:c.374A>G) in a patient with palmoplantar keratoderma (PPK) and congenital pachyonychia. Sanger sequencing and segregation analysis confirmed the variant detected in WES. For case 3, a patient with linear nevus comedonicus was found to have a somatic missense mutation in NEK9 (exon4:c.500T>C), which was only detected in the lesional DNA sample. Thus, WES shows great potential as a diagnostic tool for monogenic or oligogenic genodermatoses. Since omics is a technology-driven tool, we expect that reaching precision medicine is ever closer.
Precision Medicine

No abstract available.
Nuclear Medicine ; Precision Medicine

No abstract available.
Fluorodeoxyglucose F18/diagnostic use ; Genetic Variation ; Humans ; Individualized Medicine/*methods ; Iodine Radioisotopes/*therapeutic use ; Molecular Imaging/methods ; Positron-Emission Tomography ; Symporters/biosynthesis/*metabolism ; Thyroid Neoplasms/*drug therapy/*genetics ; Tumor Microenvironment

PURPOSE: Adenosine triphosphate-based chemotherapy response assay (ATP-CRA) is a well-documented and validated technology that can individualize chemotherapy for patients with lung, stomach, or breast cancer. This study explored the feasibility of ATP-CRA as a chemosensitivity test in patients with colorectal cancer. MATERIALS AND METHODS: A total of 118 patients who underwent surgical resection for colorectal adenocarcinoma were analyzed for chemosensitivity to 6 anticancer drugs using ATP-CRA. We calculated the cell death rate (CDR) by measuring intracellular ATP levels of drug-exposed cells and untreated controls. RESULTS: Interpretable results were available for 85.5% (118/138) of patients. The mean coefficient of variation for triplicate ATP measurements was 9.2%. The highest CDR was observed in irinotecan (34.0%) and the lowest CDR in etoposide (21.0%). Paclitaxel had the broadest range of CDR (0-86.7%) and 5-FU had the narrowest range of CDR (0-56.8%). The overall highest responsiveness was seen most prevalently in irinotecan (24.7%, 23/93 patients). Irinotecan had the greatest responsiveness in patients with well differentiated and moderately differentiated carcinoma. CONCLUSION: Our study suggests that ATP-CRA could be used to identify patients with colorectal cancer who might benefit from treatment with a specific chemotherapeutic agent.
Adenocarcinoma/*drug therapy ; Adenosine Triphosphate/*metabolism ; Adult ; Aged ; Aged, 80 and over ; Antineoplastic Agents/*pharmacology/therapeutic use ; Colorectal Neoplasms/*drug therapy ; Drug Screening Assays, Antitumor/*methods ; Female ; Humans ; Individualized Medicine ; Male ; Middle Aged ; Tumor Cells, Cultured

Tumor response may be assessed readily by the use of Response Evaluation Criteria in Solid Tumor version 1.1. However, the criteria mainly depend on tumor size changes. These criteria do not reflect other morphologic (tumor necrosis, hemorrhage, and cavitation), functional, or metabolic changes that may occur with targeted chemotherapy or even with conventional chemotherapy. The state-of-the-art multidetector CT is still playing an important role, by showing high-quality, high-resolution images that are appropriate enough to measure tumor size and its changes. Additional imaging biomarker devices such as dual energy CT, positron emission tomography, MRI including diffusion-weighted MRI shall be more frequently used for tumor response evaluation, because they provide detailed anatomic, and functional or metabolic change information during tumor treatment, particularly during targeted chemotherapy. This review elucidates morphologic and functional or metabolic approaches, and new concepts in the evaluation of tumor response in the era of personalized medicine (targeted chemotherapy).
Antineoplastic Agents/*therapeutic use ; *Diagnostic Imaging/standards/trends ; Forecasting ; Humans ; Individualized Medicine ; Neoplasms/*drug therapy/*pathology ; *Outcome Assessment (Health Care) ; Practice Guidelines as Topic ; Radiology/standards/trends ; World Health Organization

No abstract available.
Humans ; Precision Medicine*

Precision medicine (PM) refers to the tailoring of the prevention and treatment strategies to the individual characteristics of each patient. Following the vigorous advocacy of the U.S. President Obama and China's President Xi, PM has now become a hot topic of common concern worldwide. PM does not merely refer to the skill set level but rather a comprehensive medical methodology. Hence, there is PM that builds on the analytical methodology of Western medical system as well as PM that builds on Chinese medicine (CM). The differences between the two systems, fundamentally speaking, are the differences in methodology to describe the body constitution that based on reductionism and holism. Today, as science advances to complex systems, the mainstream analytical reductionism advances to the holistic synthesis era, it is imperative to introduce CM's holistic body constitution to the modern medical system in order to progress to PM. PM with its foundation on holistic body constitution, is a medical system that integrates Western medicine and CM, is the highest attainment of "PM" in the future.
Humans ; Precision Medicine ; Science

No abstract available.
Asthma* ; Precision Medicine*