Personalized medicine最新文献

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.

Aim: To describe patient communication challenges encountered by oncology clinicians, which represent a fundamental barrier to implementing precision oncology. Materials & methods: We conducted three focus groups including breast, melanoma and thoracic oncology clinicians regarding their precision oncology communication experiences. Transcripts were reviewed and coded using inductive thematic text analysis. Results: We identified four themes: varied definitions of precision oncology exist, clinicians and patients face unique challenges to precision oncology implementation, patient communication challenges engendered or heightened by precision oncology implementation and clinician communication solutions and training needs. Conclusion: This study elucidated clinicians' perspectives on implementing precision oncology and related communication challenges. Understanding these challenges and developing strategies to help clinicians navigate these discussions are critical for ensuring that patients reap the full benefits of precision oncology.

Aim: Personalized medicine (PM) is revolutionizing biomedical and clinical research while improving the ways healthcare is delivered. The EU is at the forefront of science and innovation in this field, increasing collaborations worldwide. This paper aims to assess the status of recent collaborations between Europe and China in PM-related science, technology and funded research. Methods: We analyze scientific literature, patents and funding programs, respectively. Results: PM is a scientific and industrial priority in both geographical areas, but current levels of collaboration are suboptimal. To increase these levels, policy makers should promote cooperation between researchers, innovators, industries, regulators, funding agencies and healthcare systems, while providing a forum to exchange best practices, define common guidelines for PM implementation and promote public-private partnerships.

Pancreatic duct adenocarcinoma is an aggressive tumor which constitutes the fourth leading cause of cancer-related mortality in the USA. Despite the fact that surgery is an integral part of treatment, 5-year survival rates remain unfavorable, partly because of the complex genetic background, delayed diagnosis and also the absence of effective therapeutic approaches. To optimize surgery's results in recent years, the use of patients' genetic profile has been implemented through classification into subtypes; subtypes based on mutations which could efficiently lead oncologists to the path of targeted novel neoadjuvant regimens. This approach aims to achieve the most effective selection of patients undergoing surgery, to increase the number of potentially resectable tumors and also control micro-metastases, aiming to extend overall survival.

Aim: Personalized medicine (PM) is a novel approach to diagnose and treat disease. The study assessed the knowledge, attitudes and future expectations of healthcare professionals (HPs) towards PM in Ethiopia. Materials & methods: A cross-sectional survey with primary data and a simple random sampling technique was applied to collect data. Results: Our study revealed from a total of 384 respondents, 98 (25.5%), 146 (38%) and 140 (36.5%) had good, medium and poor knowledge of PM, respectively. However, 172 (44.8%), 185 (48.2%) and 27 (7%) had positive, neutral and negative attitudes towards PM, respectively. Conclusion: Most respondent's future expectations of PM were positive. Education level had a significant association with attitudes and other sociodemographic variables were not significant for both knowledge and attitude.

Aim: To evaluate the association between candidate genetic polymorphisms and glucocorticoid-induced osteonecrosis in Arab children treated for acute lymphoblastic leukemia. Methods: A total of 189 children treated for acute lymphoblastic leukemia were genotyped for four SNPs with allele discrimination assays. The incidence and timing of radiologically confirmed symptomatic grade 4 osteonecrosis were classified based on the Ponte di Legno toxicity working group consensus definition. Results: Thirteen children developed grade 4 osteonecrosis (6.8%), of whom 12 received the intermediate/high-risk treatment protocol. GRIN3A variant allele carriers had to stop dexamethasone therapy earlier resulting in significantly shorter duration of dexamethasone treatment (mean [95% CI]: 75.17 [64.28-86.06] vs 85.90 [81.22-90.58] weeks; p = 0.054) and lower cumulative dose (mean [95% CI]: 1118.11 [954.94-1281.29] vs 1341.14 [1264.17-1418.11] mg/m^2; p = 0.011). Conclusion: This is the first pharmacogenomics evaluation of the association between GRIN3A variants and glucocorticoid-induced osteonecrosis in Arab children.