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Published By Future Medicine

1744-828x, 1741-0541

2022 ◽  
Author(s):  
Grace Lee ◽  
Lisa A Varughese ◽  
Laura Conway ◽  
Carol Stojinski ◽  
Sandhya Ashokkumar ◽  
...  

Aim: Patient knowledge and attitudes toward pharmacogenetic (PGx) testing may impact adoption of clinical testing. Methods: Questionnaires regarding knowledge, attitudes and ethics of PGx testing were distributed to 504 patients enrolled in the ADAPT study conducted at two urban hospitals in Philadelphia, Pennsylvania, USA. Responses were assessed using multivariable logistic regression. Results: 311 completed the survey (62% response rate). 74% were unaware of PGx testing, but 79% indicated using PGx results to predict medication efficacy was important. In a multivariable model, higher education level (p = 0.031) and greater genetics knowledge (p < 0.001) were associated with more positive attitudes toward PGx testing. Conclusion: Greater patient knowledge of genetics was associated with a more positive attitude toward PGx testing, indicating that educational strategies aimed at increasing genetics knowledge may enhance adoption of PGx testing in the clinic.


2022 ◽  
Author(s):  
Kerstin Clasen ◽  
Cihan Gani ◽  
Christopher Schroeder ◽  
Olaf Riess ◽  
Daniel Zips ◽  
...  

Purpose: Willingness-to-pay (WTP) analyses can support allocation processes considering the patients preferences in personalized medicine. However, genetic testing especially might imply ethical concerns that have to be considered. Methods: A WTP questionnaire was designed to compare preferences for imaging and genetic testing in cancer patients and to evaluate potential ethical concerns. Results: Comparing the options of imaging and genetics showed comparable WTP values. Ethical concerns about genetic testing seemed to be minor. Treatment success was the top priority irrespective of the diagnostic modality. In general, the majority of patients considered personalized medicine to be beneficial. Conclusion: Most patients valued personalized approaches and rated the benefits of precision medicine of overriding importance irrespective of modality or ethical concerns.


2021 ◽  
Author(s):  
Khalil El Gharib ◽  
Makram Khoury ◽  
Hampig Raphael Kourie

Aim: HER2 is a proto-oncogene expressed in 10–30% of gastric adenocarcinomas and is an ideal target for inhibition in malignancy with high recurrence and dismal survival rates. Materials & methods: A systematic search was conducted via PubMed, Google Scholar and the  clinicaltrials.gov database to report the results of ongoing and past studies investigating HER2- inhibitors in gastric cancer. Results: Twenty-five studies were included; ToGA trial is the pivotal trial approving the use of trastuzumab in metastatic gastric cancer, followed by more studies investigating other HER2- inhibitors in this setting, as well as in local and locoregional malignancy. Conclusion: Anti-HER2 molecules are proving efficacy and safety in gastric cancer; the evidence is growing and association with other cancer agents is under investigation.


2021 ◽  
Author(s):  
Glenda Hoffecker ◽  
Genevieve P Kanter ◽  
Yao Xu ◽  
William Matthai ◽  
Daniel M Kolansky ◽  
...  

Aim: To determine if interventional cardiologists’ knowledge and attitudes toward pharmacogenetic (PGx) testing influenced their antiplatelet prescribing decisions in response to CYP2C19 results. Materials & methods: Surveys were administered prior to participating in a randomized trial of CYP2C19 testing. Associations between baseline knowledge/attitudes and agreement with the genotype-guided antiplatelet recommendations were determined using multivariable logistic regression. Results: 50% believed that PGx testing would be valuable to predict medication toxicity or efficacy. 64% felt well informed about PGx testing and its therapeutic application. However, PGx experience, knowledge, nor attitudes were significantly associated with agreement to genotype-guided antiplatelet recommendations. Conclusion: Cardiologists’ knowledge and attitudes were not associated with CYP2C19-guided antiplatelet prescribing, but larger studies should be done to confirm this finding.


2021 ◽  
Author(s):  
Teresa T Ho ◽  
Maja Gift ◽  
Earnest Alexander

Aim: Characterize current perceptions, practices, preferences and barriers to integrating pharmacogenomics into patient care at an institution with an established pharmacogenomics clinic. Materials & methods: A 16-item anonymous survey was sent to healthcare professionals practicing at Tampa General Hospital and the University of South Florida Health. Results: Survey participants consisted of nine advanced practice providers, 41 pharmacists and 64 physicians. Majority of survey participants did not feel confident in their ability to interpret and apply pharmacogenomic results. In the past 12 months, 27% of physicians reported ordering a pharmacogenomic test. The greatest reported barrier to integrating pharmacogenomics was the absence of established guidelines or protocols. Conclusion: Most clinicians believed pharmacogenomics would be useful in their clinical practice but do not feel prepared to interpret pharmacogenomic results.


2021 ◽  
Author(s):  
Bee Hong Soon ◽  
Nadiah Abu ◽  
Nor Azian Abdul Murad ◽  
Sue-Mian Then ◽  
Azizi Abu Bakar ◽  
...  

Aim: Mitochondrial DNA (mtDNA) alterations play an important role in the multistep processes of cancer development. Gliomas are among the most diagnosed brain cancer. The relationship between mtDNA alterations and different grades of gliomas are still elusive. This study aimed to elucidate the profile of somatic mtDNA mutations in different grades of gliomas and correlate it with clinical phenotype. Materials & methods: Forty histopathologically confirmed glioma tissue samples and their matched blood were collected and subjected for mtDNA sequencing. Results & conclusion: About 75% of the gliomas harbored at least one somatic mutation in the mtDNA gene, and 45% of these mutations were pathogenic. Mutations were scattered across the mtDNA genome, and the commonest nonsynonymous mutations were located at complex I and IV of the mitochondrial respiratory chain. These findings may have implication for future research to determine the mitochondrial energetics and its downstream metabolomics on gliomas.


2021 ◽  
Author(s):  
Arianna Ottini ◽  
Pierangela Sepe ◽  
Teresa Beninato ◽  
Mélanie Claps ◽  
Valentina Guadalupi ◽  
...  

Although immunotherapy has recently revolutionized standard of care in different cancer types, prostate cancer has generally failed to show dramatic responses to immune checkpoint inhibitors. As in other tumors, the goal in prostate cancer is now to target treatments more precisely on patient’s individual characteristics through precision medicine. Defects in mismatch repair, mutations in the exonuclease domain of the DNA polymerase epsilon ( POLE), high tumor mutational burden and the presence of biallelic loss of CDK12 among others, are predictive biomarkers of response to immunotherapy. In the present review, we summarize the evolving landscape of immunotherapy in prostate cancer, including precision approaches and strategies to define classes of responsive patients and scale up resistance to immune checkpoint inhibitors.


2021 ◽  
Author(s):  
Jun Zhong ◽  
Jiabin Liu ◽  
Yi Zheng ◽  
Xiaoli Xie ◽  
Qiuming He ◽  
...  

Aim: To explore the association between  miR-938 rs2505901 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 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-938 rs2505901 T>C polymorphism is significantly associated with HSCR risk in Chinese children. This result needs to be confirmed with well-designed studies.


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