Personalized medicine最新文献

Aim: This study determined if gene variants in the GABA receptor delta subunit (GABRD) are associated with treatment response and dose in methadone maintenance treatment (MMT) for heroin addiction. Materials & methods: A total of 286 MMT patients were recruited and divided into response and nonresponse groups based on retention time in therapy. A total of 177 responders were classified into low dose and high dose subgroups according to the stabilized methadone dose. Four (single nucleotide polymorphisms) SNPs (rs13303344, rs4481796, rs2376805 and rs2229110) in GABRD were genotyped using the TaqMan SNP assay. Logistic regression was used to assess the genetic effects of the SNPs in MMT. Results: No significant associations were observed between the SNPs and treatment response or dose, except the frequency of haplotype ACGC at the four SNPs significantly differed between responders and nonresponders. Conclusion: The results indicated that GABRD variants may play a small role in modulating methadone treatment response.

Advancing frontiers of clinical research, we discuss the need for intelligent health systems to support a deeper investigation of COVID-19. We hypothesize that the convergence of the healthcare data and staggering developments in artificial intelligence have the potential to elevate the recovery process with diagnostic and predictive analysis to identify major causes of mortality, modifiable risk factors and actionable information that supports the early detection and prevention of COVID-19. However, current constraints include the recruitment of COVID-19 patients for research; translational integration of electronic health records and diversified public datasets; and the development of artificial intelligence systems for data-intensive computational modeling to assist clinical decision making. We propose a novel nexus of machine learning algorithms to examine COVID-19 data granularity from population studies to subgroups stratification and ensure best modeling strategies within the data continuum.

Aim: To increase Spanish speakers' representation in genomics research, accessible study materials on genetic topics must be made available in Spanish. Materials & methods: The Clinical Sequencing Evidence-Generating Research consortium is evaluating genome sequencing for underserved populations. All sites needed Spanish translation of recruitment materials, surveys and return of results. Results: We describe our process for translating site-specific materials, as well as shared measures across sites, to inform future efforts to engage Spanish speakers in research. Conclusion: In translating and adapting study materials for roughly 1000 Spanish speakers across the USA, and harmonizing translated measures across diverse sites, we overcame numerous challenges. Translation should be performed by professionals. Studies must allocate sufficient time, effort and budget to translate and adapt participant materials.

Aim: Investigate why healthcare providers are not always willing to use molecular biomarker tests, even though they promise to personalize disease diagnosis and treatment. Materials & methods: We interviewed 20 Dutch urological healthcare providers to ascertain why they used or did not use SelectMDx, a biomarker test for prostate cancer. Results: Whether and how it was used differed from the developers' expectations, because users and nonusers disagreed about its perceived advantages; the scientific and clinical evidence; the advantages of MRI; and the value of PCA3 testing. Financial issues and the absence of SelectMDx in professional guidelines and hospital care pathways also hampered its use. Conclusion: Eliciting users' and nonusers' views is important to better understand how biomarker tests can be embedded in clinical practice.

The primary purpose of 'omics' technologies is to understand the intricacy of genomics, proteomics, metabolomics and other molecular mechanisms to reveal the complex traits of human diseases. The significant use of omics technologies and their applications in medicine gear up the study of the pathogenesis of several disorders. The detection of biomarkers in the early onset of diseases is challenging; still, omics can discover novel molecular mechanisms and biomarkers. In this review, the different types of omics and their technologies are explicated and aimed to provide their emerging applications in cardiovascular precision medicine. These technologies significantly impact optimizing medical treatment for individuals to reach a higher level in precision medicine.

Metabolomics is rapidly evolving omics technology in personalized medicine, it offers a new avenue for identification of multiple novel metabolic mediators of impaired glucose tolerance and dysglycemia. Liquid chromatography-mass spectrometry, gas chromatography-mass spectrometry and nuclear magnetic resonance spectroscopy are most commonly used analytical methods in the field of metabolomics. Recent evidences showed that metabolomic profiles are link to the incidence of diabetes. In this review, an overview of metabolomics studies in diabetes revealed several diabetes-associated metabolites including 1,5-anhydroglycitol, branch chain amino acids, glucose, α-hydroxybutyric acid, 3-hydroundecanoyl-carnitine and phosphatidylcholine that could be potential biomarkers associated with diabetes. These identified metabolites can be used to develop personalized prognostics and diagnostic, and help in diabetes management.

Tweetable abstract Fueled by technological advancements and the integration efforts of many pioneer health systems, personalized medicine is now being clinically implemented at measurable but incomplete levels system-wide.

Aim: To explore the association between miR-938rs2505901 T>C polymorphism and Hirschsprung disease (HSCR) risk in Chinese children. Materials & Methods: We conducted a case-control study in a Chinese population with 1381 cases and 1457 controls. The associated correlation strengths were assessed by adjusted odds ratios (AORs) and 95% CIs. Results: The results revealed that the rs2505901 TC and rs2505901 TC/CC genotype were related to an increased HSCR risk compared to the risk contributed by the rs2505901 TT genotype. A stratification analysis showed that the rs2505901 TC/CC genotype promoted the progression of HSCR more significantly in patients with the short-segment HSCR subtype. Conclusion: Our study indicated that miR-938rs2505901 T>C polymorphism is significantly associated with HSCR risk in Chinese children. This result needs to be confirmed with well-designed studies.

There is little question that precision medicine will eventually be the standard of care in treatment with algorithms designed for therapy selection and is already being used in some specialties such as cystic fibrosis and multiple cancer treatments. Genetic counselors are the heart of the treatment team in relation to counseling regarding genetic risk factors and disease states. A framework for treatment within the interdisciplinary team with more defined roles and areas of specialty will need to be in place as this practice approach expands with new data and treatments. Pharmacists are poised to be of great assistance in this matrix as many of these roles are merely an extension of current tasks and responsibilities of pharmacy practice.