Personalized medicine最新文献

With over 5.5 million deaths worldwide attributed to the respiratory disease COVID-19 caused by the novel coronavirus SARS-CoV-2, it is essential that continued efforts be made to track the evolution and spread of the virus globally. The authors previously presented a rapid and cost-effective method to sequence the entire SARS-CoV-2 genome with 95% coverage and 99.9% accuracy. This method is advantageous for identifying and tracking variants in the SARS-CoV-2 genome compared with traditional short-read sequencing methods which can be time-consuming and costly. Herein, the addition of genotyping probes to a DNA chip that targets known SARS-CoV-2 variants is presented. The incorporation of genotyping probe sets along with the advent of a moving average filter improved the sequencing coverage and accuracy of the SARS-CoV-2 genome.

Aim: To assess the knowledge, attitudes, and practices of the healthcare professionals working at Children's Cancer Hospital Egypt regarding pharmacovigilance (PV) and adverse drug reaction (ADR) reporting, in addition to the ADR reporting barriers. Materials & methods: A cross-sectional study was conducted at Children's Cancer Hospital Egypt from July to September 2021 using a validated questionnaire. Results: About 37 physicians (20.3%) and 145 pharmacists (79.7%) responded to the survey. Overall, the knowledge (median: 40%) and practice (median: 50%) of PV and the reporting of ADRs were low; however, attitudes were mostly positive. The main barrier to reporting ADRs was The difficulty of determining whether or not ADRs occurred (42.3%). Conclusion: Understanding of PV and ADR reporting could improve the huge gap between ADRs experienced and ADRs reported. In order to be able to assess the impact of personalized medicine implementation, adequate ADR reporting should be well established.

Aim: In anticipation of the implementation of personalized medicine in Brazil the authors assessed the characteristics of its medical genetics workforce together with the distribution of genetic diseases and services across the country. Materials & methods: The authors used demographic data on medical specialties, and summarized data from the public and private healthcare systems on live births, hospitalization and mortality, for the years 2019 and 2020. Results: The distribution of medical geneticists (MGs) overlapped the country-wide distribution of genetic diseases and services examined, indicating that ∼30% of the patient population has access to a MG specialist. Graduate specialism in medical genetics, registered MGs and suitable workplaces were concentrated in the south and southeast regions, leaving the north and northeast deeply underserved. Conclusion: MGs are concentrated in the wealthiest and most populated areas, while other regions have very limited services. These inequalities should be addressed for a successful transition to personalized medicine.

Aim: The aim was to investigate the expression profile of miR-516a-3P and its correlation with the PNPLA3 rs738409 polymorphism in Egyptian hepatitis C virus (HCV) and hepatocellular carcinoma (HCC) patients. Materials & methods: miR-516a-3P was quantified and rs738409 was genotyped by quantitative reverse transcription PCR. Results: miR-516a-3P was significantly upregulated in HCC patients compared with HCV patients (p = 0.001). Receiver operating characteristic curve analysis confirmed that miR-516a-3P discriminates HCC from HCV (p = 0.001). A significant (p = 0.015) correlation between miR-516a-3p level and PNPLA3 rs738409 genotypes was recorded in HCV patients, yet it was not recorded in either healthy individuals or HCC patients. miR-516a-3p level was significantly (p = 0.001) higher in HCV patients carrying the rs738409 GG genotype than in those carrying the CC genotype. Conclusion: miR-516a-3P is a potential biomarker in HCC. PNPLA3 rs738409 GG carriers affect miR-516a-3P expression in HCV, and this may highlight a new mechanism in liver disease.

Aim: This study aimed to explore the genetic risk factors and validate variants of abnormal uterine bleeding after copper intrauterine device insertion. Methods: Whole-exome sequencing was performed and several variants were validated by Sequenom MassARRAY. Results: Eight variants showed potential clinical damage according to American College of Medical Genetics and Genomics criteria. By combined analysis of screening and validation, NFASC RS2802808 C>G p.Ile971Met (P_allele = 0.009 and P_genotype = 0.027) and PIGR RS2275531 C>T p.Gly365Ser (P_allele = 0.009 and P_genotype = 0.013) variants were identified as significantly associated with abnormal uterine bleeding with a false discovery rate <0.05. NFASC and PIGR may play a role in abnormal uterine bleeding by regulating coagulation fibrinolysis and endometrial epithelium inflammation functions. Conclusion: These findings provide a genetic basis for clinical individualization and precision of intrauterine device implantation.

Aim: To elicit preferences for pharmacogenomic (PGx) testing in polypharmacy patients. Materials & methods: A face-to-face discrete choice experiment survey was designed and administered to adult polypharmacy patients recruited at a local retail pharmacy in Albuquerque (NM, USA). Results: A total of 128 eligible polypharmacy patients completed the discrete choice experiment survey and significantly preferred a PGx test with lower cost, better confidentiality and higher certainty of identifying best medication/dose and side effects and one that can be used to advocate for their treatment needs (all p < 0.01). Conclusion: This is the first study eliciting preferences for PGx testing among polypharmacy patients. The study found most polypharmacy patients were willing to take a PGx test and their preferences were mostly influenced by test cost.

Colorectal cancer remains a major cause of mortality in the USA, despite advances in prevention and screening. Existing therapies focus primarily on generic treatment such as surgical intervention and chemotherapy, depending on disease severity. As personalized medicine and targeted molecular oncology continue to develop as promising treatment avenues, there has emerged a need for effective targets and biomarkers of colorectal cancer. The transmembrane receptor guanylyl cyclase C (GUCY2C) regulates intestinal homeostasis and has emerged as a tumor suppressor. Further, it is universally expressed in advanced metastatic colorectal tumors, as well as other cancer types that arise through intestinal metaplasia. In this context, GUCY2C satisfies many characteristics of a compelling target and biomarker for gastrointestinal malignancies.

Aim: The COVID-19 pandemic forced medical practices to augment healthcare delivery to remote and virtual services. We describe the results of a nationwide survey of cardiovascular professionals regarding telehealth perspectives. Materials & methods: A 31-question survey was sent early in the pandemic to assess the impact of COVID-19 on telehealth adoption & reimbursement. Results: A total of 342 clinicians across 42 states participated. 77% were using telehealth, with the majority initiating usage 2 months after the COVID-19 shutdown. A variety of video-based systems were used. Telehealth integration requirements differed, with electronic medical record integration being mandated in more urban than rural practices (70 vs 59%; p < 0.005). Many implementation barriers surfaced, with over 75% of respondents emphasizing reimbursement uncertainty and concerns for telehealth generalizability given the complexity of cardiovascular diseases. Conclusion: Substantial variation exists in telehealth practices. Further studies and legislation are needed to improve access, reimbursement and the quality of telehealth-based cardiovascular care.