Personalized Medicine

Aim: This study aims to develop a cloud-based digital healthcare system for precision medical hospital information systems (P-HIS). Methods: In 2020, international standardization of P-HIS clinical terms and codes was performed. In 2021, South Korea's first tertiary hospital cloud was established and implemented successfully. Results: P-HIS was applied at Korea's first tertiary general hospital. Common data model-compatible precision medicine/medical service solutions were developed for medical support. Ultrahigh-quality medical data for precision medicine were acquired and built using big data...

Gastric cancer remains undoubtedly one of the most common and deadly cancers worldwide. The global incidence shows wide geographic variation with a high prevalence in Asia. Besides that, there are evident differences in epidemiology, histopathology, tumor location, diagnosis and treatment strategy between east and west countries. Gastric cancer represents an aggressive disease, with many factors influencing its development and also recurrence after surgical resection. New knowledge of disease spread and new routes of metastases are now emerging and the 'novel' concept of complete mesogastric excision for gastric cancer is under consideration and debate...

Epilepsy is characterized by repeated seizure activity. Valproate, a commonly used antiepileptic drug, shows large inter-individual variation in plasma valproic levels and causes many adverse drug reactions. Aim: To find the influence of CYP2C9*2 and *3 polymorphisms on valproate-associated adverse drug reactions and plasma valproic acid levels in people with epilepsy. Methods: We recruited 158 people with epilepsy (79 cases and 79 controls) from an epilepsy clinic. Steady-state plasma valproic acid levels were measured using liquid chromatography-mass spectrometry and genotyping of CYP2C9 variants was carried out with helps of RT-PCR...

No abstract text is available yet for this article.

Aim: To explore variations in the cost-effectiveness of entrectinib across different testing strategies and settings. Methods: Four testing strategies where adult cancer patients received entrectinib if they tested positive for NTRK  gene fusions compared with 'no testing' and standard of care (SoC) for all patients were evaluated. Results: Immunohistochemistry for all patients followed by RNA-based next-generation sequencing after a positive result was the optimal strategy in all included countries...

No abstract text is available yet for this article.

Background: The HEcoPerMed consortium developed a methodological guidance for the harmonization and improvement of economic evaluations in personalized medicine. Materials & methods: In three therapeutic areas, health economic models were developed to scrutinize the recommendations of the guidance. Results: Altogether, 20 of the 23 recommendations of the guidance were addressed by the models. Seven recommendations were applied in all studies, six in two of the studies and seven in one of the studies. Recommendations with an essential role on the final conclusions of the analyses were identified in each study...

Maturity-onset diabetes of the young (MODY) is often misdiagnosed as Type I or II diabetes. This study was designed to assess the cost-effectiveness of MODY screening strategies in Hungary, which included a recent genetic test compared with no routine screening for MODY. A simulation model that combined a decision tree and an individual-level Markov model was constructed to assess the costs per quality-adjusted life year of screening strategies. Stratifying patients based on age and insulin treatment followed by a risk assessment questionnaire, a laboratory test and genetic testing was the most cost-effective strategy, saving EUR 12 and generating 0...

Background: Correct diagnosis of maturity-onset diabetes of the young (MODY), which is often misdiagnosed as Type 1 or 2 diabetes, is important for providing appropriate treatment. Materials & Methods: A diabetes model was adapted to Hungary, the Netherlands, and the UK to analyse the cost-effectiveness and budget impact of different screening strategies for MODY with 20 years time horizon. Results: Compared with no screening, screening with the MODY calculator then genetic testing is considered cost-effective with respect to each country's willingness to pay threshold...

The aim of this study was to evaluate the cost-effectiveness of ToxNav© , a multivariant genetic test, to screen for DPYD followed by personalized chemotherapy dosing for metastatic breast cancer in the UK compared with no testing followed by standard dose, standard of care. In the main analysis, ToxNav© was dominant over standard of care, producing 0.19 additional quality-adjusted life years and savings of £78,000 per patient over a lifetime. The mean additional quality-adjusted life years per person from 1000 simulations was 0...

Aim: The possible effects of maternal and placental ANRIL polymorphisms on preeclampsia were examined. Methods: The maternal blood of 315 preeclamptic and 317 control women and the placentas of 103 preeclamptic and 133 control women were enrolled in the study. ANRIL polymorphisms were genotyped using a PCR-RFLP method. Results: The maternal ANRIL rs1333048C variant showed a relationship with a lower risk of preeclampsia in codominant and dominant models. The maternal ANRIL rs4977574G variant had a relationship with a lower risk of preeclampsia in codominant and recessive models...

The implementation of adequate financing and reimbursement of personalized medicine (PM) in Europe is still turbulent. The views and experience of stakeholders about barriers in financing and reimbursing PM and potential solutions were elicited and supplemented with literature findings to draft a set of recommendations. Key recommendations to overcome the barriers for adequately financing and reimbursing PM in different healthcare systems in Europe included the provision of legal foundations and establishment of large pan-European databases, use of financial-based agreements and regulation of transparency of prices and reimbursement, and creating a business-friendly environment and attractive market for innovation...

Background: Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions. Methods: NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm de novo variants. Diagnostic tests confirmed NIPT-detected cases. Results: Among 93 pregnancies with ultrasound findings, 11 (11...

Personalized medicine has allowed for knowledge at an individual level for several diseases and this has led to improvements in prevention and treatment of various types of neoplasms. Despite the greater availability of tests, the costs of genomic testing and targeted therapies are still high for most patients, especially in low- and middle-income countries. Although value frameworks and health technology assessment are fundamental to allow decision-making by policymakers, there are several concerns in terms of personalized medicine pharmacoeconomics...

The cost-effectiveness and budget impact of introducing extended DPYD testing prior to fluoropyrimidine-based chemotherapy in metastatic breast cancer patients in the UK, The Netherlands and Hungary were examined. DPYD testing with ToxNav© was cost-effective in all three countries. In the UK and The Netherlands, the ToxNav strategy led to more quality-adjusted life years and fewer costs to the health systems compared with no genetic testing and standard dosing of capecitabine/5-fluorouracil...

The biggest challenges that any country faces are affordability and accessibility of quality healthcare. Technological advancements can address these challenges. One such advancement is personalized medicine (PM). This paper discusses the implementation and institutionalization of PM . Using the sectoral innovation system framework, this work describes government interventions with research trends in PM in India. The Web of Science database was used to analyze research trends. Indian government-funded interventions to institutionalize PM were compiled and analyzed...

Aim: Interindividual and interethnic differences in drug efficacy drive the development and progress of pharmacogenomics and precision medicine. This study was performed to enrich the pharmacogenomic information for the Lisu population from China. Methods: Fifty-four very important pharmacogene variants were selected from PharmGKB and genotyped in 199 Lisu individuals. The genotype distribution data of 26 populations were downloaded from the 1000 Genomes Project and analyzed with the χ2 test. Results: Among the 26 populations in the 1000 Genomes Project, African Caribbeans in Barbados; Esan in Nigeria; Gambian in Western Divisions, The Gambia; Luhya in Webuye, Kenya; Yoruba in Ibadan; Finnish in Finland; Toscani in Italy and Sri Lankan Tamil in the UK were the top eight nationalities with the most significant differences in genotype distribution from the Lisu population...

Nanosensors are nanoscale devices that measure physical attributes and convert these signals into analyzable information. In preparation, for the impending reality of nanosensors in clinical practice, we confront important questions regarding the evidence supporting widespread device use. Our objectives are to demonstrate the value and implications for new nanosensors as they relate to the next phase of remote patient monitoring and to apply lessons learned from digital health devices through real-world examples...

Background: Considering the role of visfatin in nonalcoholic fatty liver disease (NAFLD), a growing global epidemic, this article explores the potential association between the visfatin gene ( NAMPT ) and NAFLD. Methods: We used the PCR-restriction fragment length polymorphism method to genotype the rs1319501 promoter variant of the NAMPT gene in 154 patients with biopsy-proven NAFLD and 158 controls in this case-control genetic association study. Results: The 'CC+TC' genotype of NAMPT rs1319501 in comparison to the 'TT' genotype occurred less frequently in the cases with NAFLD than the controls, and the difference remained significant after adjustment for confounding factors (p = 0...

Aim: To investigate associations between MRI features and high-frequency mutations of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC). Methods: This study included 58 HCC patients who underwent contrast-enhanced MRI prior to surgical resection and genome sequencing. MRI features and mutation information were evaluated. Results: The top five most frequently mutated genes in HCC were TP53 (53.45%), TAF1 (24.14%), PDE4DIP (22.41%), ABCA13 (18.97%) and  LRP1B (17.24%). Mutations in TP53 and LRP1B were associated with tumor necrosis (p = 0...