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"Precision medicine" disparities

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https://www.readbyqxmd.com/read/28167869/bearings-in-hip-arthroplasty-joint-registries-vs-precision-medicine-review-article
#1
REVIEW
Mark J Pearson, Liam M Grover, Janet M Lord, Simon W Jones, Edward T Davis
BACKGROUND: Precision medicine has been adopted in a range of clinical settings where omics data have led to greater characterisation of disease and stratification of patients into subcategories of phenotypes and pathologies. However, in orthopaedics, precision medicine lags behind other disciplines such as cancer. Joint registries have now amassed a huge body of data pertaining to implant performance which can be broken down into performance statistics for different material types in different cohorts of patients...
February 2017: HSS Journal: the Musculoskeletal Journal of Hospital for Special Surgery
https://www.readbyqxmd.com/read/28127673/opportunities-and-challenges-in-precision-medicine-improving-cancer-prevention-and-treatment-for-asian-americans
#2
Chau Trinh-Shevrin, Rachel Sacks, Jiyoung Ahn, Stella S Yi
Cancer is the leading cause of death among Asian Americans, and cancer cases among Asian Americans, Pacific Islanders, and Native Americans are expected to rise by 132% by 2050. Yet, little is known about biologic and environmental factors that contribute to these higher rates of disease in this population. Precision medicine has the potential to contribute to a more comprehensive understanding of morbidity and mortality trends among Asian American subgroups and to reduce cancer-related health disparities by recognizing patients as individuals with unique genetic, environmental, and lifestyle characteristics; identifying ways in which these differences impact cancer expression; and developing tailored disease prevention and clinical treatment strategies to address them...
January 26, 2017: Journal of Racial and Ethnic Health Disparities
https://www.readbyqxmd.com/read/28074382/engaging-hmong-adults-in-genomic%C3%A2-and%C3%A2-pharmacogenomic-research-toward-reducing-health-disparities-in-genomic-knowledge-using-a-community-based-participatory-research-approach
#3
Kathleen A Culhane-Pera, Robert J Straka, MaiKia Moua, Youssef Roman, Pachia Vue, Kang Xiaaj, May Xia Lo, Mai Lor
Advancing precision medicine relies in part on examining populations that may exhibit unique genetic variants that impact clinical outcomes. Failure to include diverse populations in genomic-based research represents a health disparity. We implemented a community-based participatory research (CBPR) process with the Hmong community in Minnesota, who were refugees from Laos, in order to assess the feasibility of conducting genomic and pharmacogenomic-based research for genetic variants that are relevant to the Hmong community...
January 10, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28069798/integrative-comparison-of-mrna-expression-patterns-in-breast-cancers-from-caucasian-and-asian-americans-with-implications-for-precision-medicine
#4
Yanxia Shi, Albert Steppi, Ye Cao, Jianan Wang, Max M He, Liren Li, Jinfeng Zhang
Asian Americans (AS) have significantly lower incidence and mortality rates of breast cancer than Caucasian Americans (CA). Although this racial disparity has been documented, the underlying pathogenetic factors explaining it are obscure. We addressed this issue by an integrative genomics approach to compare mRNA expression between AS and CA cases of breast cancer. RNA-seq data from the Cancer Genome Atlas showed that mRNA expression revealed significant differences at gene and pathway levels. Increased susceptibility and severity in CA patients were likely the result of synergistic environmental and genetic risk factors, with arachidonic acid metabolism and PPAR signaling pathways implicated in linking environmental and genetic factors...
January 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28007335/precision-medicine-in-rare-disease-mechanisms-of-disparate-effects-of-n-carbamyl-l-glutamate-on-mutant-cps1-enzymes
#5
Dashuang Shi, Gengxiang Zhao, Nicholas Ah Mew, Mendel Tuchman
This study documents the disparate therapeutic effect of N-carbamyl-l-glutamate (NCG) in the activation of two different disease-causing mutants of carbamyl phosphate synthetase 1 (CPS1). We investigated the effects of NCG on purified recombinant wild-type (WT) mouse CPS1 and its human corresponding E1034G (increased ureagenesis on NCG) and M792I (decreased ureagenesis on NCG) mutants. NCG activates WT CPS1 sub-optimally compared to NAG. Similar to NAG, NCG, in combination with MgATP, stabilizes the enzyme, but competes with NAG binding to the enzyme...
December 8, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27993174/reconciling-evidence-based-medicine-and-precision-medicine-in-the-era-of-big-data-challenges-and-opportunities
#6
Jacques S Beckmann, Daniel Lew
This era of groundbreaking scientific developments in high-resolution, high-throughput technologies is allowing the cost-effective collection and analysis of huge, disparate datasets on individual health. Proper data mining and translation of the vast datasets into clinically actionable knowledge will require the application of clinical bioinformatics. These developments have triggered multiple national initiatives in precision medicine-a data-driven approach centering on the individual. However, clinical implementation of precision medicine poses numerous challenges...
December 19, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27929525/the-precision-medicine-initiative-s-all-of-us-research-program-an-agenda-for-research-on-its-ethical-legal-and-social-issues
#7
REVIEW
Pamela L Sankar, Lisa S Parker
The Precision Medicine Initiative (PMI) is an innovative approach to developing a new model of health care that takes into account individual differences in people's genes, environments, and lifestyles. A cornerstone of the initiative is the PMI All of Us Research Program (formerly known as PMI-Cohort Program) which will create a cohort of 1 million volunteers who will contribute their health data and biospecimens to a centralized national database to support precision medicine research. The PMI All of US Research Program is the largest longitudinal study in the history of the United States...
December 8, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27814611/targeted-drugs-and-diagnostic-assays-companions-in-the-race-to-combat-ethnic-disparity
#8
Nikita Wright, Padmashree Rida, Uma Krishnamurti, Xiaoxian Li, Ritu Aneja
African Americans (AAs) are more likely than European Americans to develop aggressive breast cancer subtypes, and have higher recurrence and mortality rates; this results in a stark breast-cancer related ethnic disparity in clinical outcomes. In this era of personalized oncology, companion diagnostics (CDx) are transforming the cancer treatment narrative slowly but steadily, by enabling the use of safety and/or efficacy biomarkers to stratify patient populations, and thus ensuring more effective deployment of targeted therapeutics...
January 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/27790362/evaluation-of-sex-and-gender-based-medicine-training-in-post-graduate-medical-education-a-cross-sectional-survey-study
#9
Juliana M Kling, Steven H Rose, Lisa N Kransdorf, Thomas R Viggiano, Virginia M Miller
BACKGROUND: Addressing healthcare disparities is a national priority for initiatives in precision and individualized medicine. An essential component of precision medicine is the understanding that sex and gender influence health and disease. Whether these issues are addressed in post-graduate medical education curricula is unknown. METHODS: A questionnaire was designed and administered to residents across the Mayo Clinic enterprise to assess current knowledge of sex and gender medicine in a large program of post-graduate medical education and to identify barriers and preferred teaching methods for addressing sex and gender issues in health and disease...
2016: Biology of Sex Differences
https://www.readbyqxmd.com/read/27775837/chemotherapy-decisions-and-patient-experience-with-the-recurrence-score-assay-for-early-stage-breast-cancer
#10
Christopher R Friese, Yun Li, Irina Bondarenko, Timothy P Hofer, Kevin C Ward, Ann S Hamilton, Dennis Deapen, Allison W Kurian, Steven J Katz
BACKGROUND: The 21-gene recurrence score (RS) assay stratifies early-stage, estrogen receptor-positive breast cancer by recurrence risk. Few studies have examined the ways in which physicians use the RS to recommend adjuvant systemic chemotherapy or patients' experiences with testing and decision making. METHODS: This study surveyed 3880 women treated for breast cancer in 2013-2014; they were identified from the Los Angeles County and Georgia Surveillance, Epidemiology, and End Results registries (response rate, 71%)...
January 1, 2017: Cancer
https://www.readbyqxmd.com/read/27636225/an-expert-review-of-pharmacogenomics-of-sickle-cell-disease-therapeutics-not-yet-ready-for-global-precision-medicine
#11
Khuthala Mnika, Gift D Pule, Collet Dandara, Ambroise Wonkam
Sickle cell disease (SCD) is a blood disease caused by a single nucleotide substitution (T > A) in the beta globin gene on chromosome 11. The single point mutation (Glu6Val) promotes polymerization of hemoglobin S (HbS) and causes sickling of erythrocytes. Vaso-occlusive painful crises are associated with recurrent and long-term use of analgesics/opioids and hydroxyurea (HU) by people living with SCD. The present analysis offers a state-of-the-art expert review of the effectiveness of pharmacogenomics/genetics of pain management in SCD, with specific focus on HU and opioids...
October 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27460824/the-impact-of-tumor-profiling-approaches-and-genomic-data-strategies-for-cancer-precision-medicine
#12
Andrea Garofalo, Lynette Sholl, Brendan Reardon, Amaro Taylor-Weiner, Ali Amin-Mansour, Diana Miao, David Liu, Nelly Oliver, Laura MacConaill, Matthew Ducar, Vanesa Rojas-Rudilla, Marios Giannakis, Arezou Ghazani, Stacy Gray, Pasi Janne, Judy Garber, Steve Joffe, Neal Lindeman, Nikhil Wagle, Levi A Garraway, Eliezer M Van Allen
BACKGROUND: The diversity of clinical tumor profiling approaches (small panels to whole exomes with matched or unmatched germline analysis) may engender uncertainty about their benefits and liabilities, particularly in light of reported germline false positives in tumor-only profiling and use of global mutational and/or neoantigen data. The goal of this study was to determine the impact of genomic analysis strategies on error rates and data interpretation across contexts and ancestries...
July 26, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27441706/conducting-precision-medicine-research-with-african-americans
#13
Chanita Hughes Halbert, Jasmine McDonald, Susan Vadaparampil, LaShanta Rice, Melanie Jefferson
IMPORTANCE: Precision medicine is an approach to detecting, treating, and managing disease that is based on individual variation in genetic, environmental, and lifestyle factors. Precision medicine is expected to reduce health disparities, but this will be possible only if studies have adequate representation of racial minorities. OBJECTIVE: It is critical to anticipate the rates at which individuals from diverse populations are likely to participate in precision medicine studies as research initiatives are being developed...
2016: PloS One
https://www.readbyqxmd.com/read/27238737/shooting-for-the-moon-or-flying-too-near-the-sun-crossing-the-value-rubicon-in-precision-cancer-care
#14
Mark Lawler, Declan French, Raymond Henderson, Ajay Aggarwal, Richard Sullivan
In his last two State of the Union addresses, President Barack Obama has focused on the need to deliver innovative solutions to improve human health, through the Precision Medicine Initiative in 2015 and the recently announced Cancer Moonshot in 2016. Precision cancer care has delivered clear patient benefit, but even for high-impact medicines such as imatinib mesylate (Glivec) in chronic myeloid leukaemia, the excitement at the success of this practice-changing clinical intervention has been somewhat tempered by the escalating price of this 'poster child' for precision cancer medicine (PCM)...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27209407/scientific-achievements-may-not-reach-everyone-understanding-disparities-in-acute-leukemia
#15
REVIEW
Manali I Patel
Over the past decade, scientific advancements have resulted in improved survival from acute leukemia. Continued advancements are expected given the attention to precision medicine and the resulting growth in development and adoption of risk-stratified, personalized therapies. While precision medicine has great potential to improve acute leukemia outcomes, there remain significant barriers to ensuring equitable access to these technologies and receipt of these prescribed targeted, personalized therapies. Over the past 3 years, studies report persistent outcome disparities among patients from specific racial and ethnic backgrounds, insurance and socioeconomic status, and other socio-demographic factors after a diagnosis of acute leukemia...
August 2016: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/27142222/novel-genetic-risk-factors-for-asthma-in-african-american-children-precision-medicine-and-the-sage-ii-study
#16
Marquitta J White, O Risse-Adams, P Goddard, M G Contreras, J Adams, D Hu, C Eng, S S Oh, A Davis, K Meade, E Brigino-Buenaventura, M A LeNoir, K Bibbins-Domingo, M Pino-Yanes, E G Burchard
Asthma, an inflammatory disorder of the airways, is the most common chronic disease of children worldwide. There are significant racial/ethnic disparities in asthma prevalence, morbidity, and mortality among US children. This trend is mirrored in obesity, which may share genetic and environmental risk factors with asthma. The majority of asthma biomedical research has been performed in populations of European decent. We sought to identify genetic risk factors for asthma in African American children. We also assessed the generalizability of genetic variants associated with asthma in European and Asian populations to African American children...
July 2016: Immunogenetics
https://www.readbyqxmd.com/read/27028310/effect-of-actionable-somatic-mutations-on-racial-ethnic-disparities-in-head-and-neck-cancer-prognosis
#17
Evan S Wu, Jong Y Park, Joseph A Zeitouni, Carmen R Gomez, Isildinha M Reis, Wei Zhao, Deukwoo Kwon, Eunkyung Lee, Omar L Nelson, Hui-Yi Lin, Elizabeth J Franzmann, Jason Savell, Thomas V McCaffrey, W Jarrard Goodwin, Jennifer J Hu
BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide and minorities have the worst survival. However, the molecular mechanisms underlying survival disparities have not been elucidated. METHODS: In a retrospective study, we assessed association between HNSCC early death (<2 years) and 208 somatic mutations of 10 cancer-related genes in 214 patients: 98 non-Hispanic whites (46%), 72 Hispanic whites (34%), and 44 African Americans (20%)...
August 2016: Head & Neck
https://www.readbyqxmd.com/read/26984047/sociocultural-variation-in-attitudes-toward-use-of-genetic-information-and-participation-in-genetic-research-by-race-in-the-united-states-implications-for-precision-medicine
#18
Timothy Dye, Dongmei Li, Margaret Demment, Susan Groth, Diana Fernandez, Ann Dozier, Jack Chang
BACKGROUND: "Precision medicine" (PM) requires researchers to identify actionable genetic risks and for clinicians to interpret genetic testing results to patients. Whether PM will equally benefit all populations or exacerbate existing disparities is uncertain. METHODS: We ascertained attitudes toward genetic testing and genetic research by race in the United States using the online Amazon mTurk US workforce (n = 403 White; n = 56 African American (AA))...
July 2016: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/26962155/staphylococcus-aureus-%C3%AE-toxin-potentiates-opportunistic-bacterial-lung-infections
#19
Taylor S Cohen, Jamese J Hilliard, Omari Jones-Nelson, Ashley E Keller, Terrence O'Day, Christine Tkaczyk, Antonio DiGiandomenico, Melissa Hamilton, Mark Pelletier, Qun Wang, Binh An Diep, Vien T M Le, Lily Cheng, JoAnn Suzich, C Kendall Stover, Bret R Sellman
Broad-spectrum antibiotic use may adversely affect a patient's beneficial microbiome and fuel cross-species spread of drug resistance. Although alternative pathogen-specific approaches are rationally justified, a major concern for this precision medicine strategy is that co-colonizing or co-infecting opportunistic bacteria may still cause serious disease. In a mixed-pathogen lung infection model, we find that the Staphylococcus aureus virulence factor α toxin potentiates Gram-negative bacterial proliferation, systemic spread, and lethality by preventing acidification of bacteria-containing macrophage phagosomes, thereby reducing effective killing of both S...
March 9, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/26776194/kidney-disease-genetics-and-the-importance-of-diversity-in-precision-medicine
#20
Jessica N Cooke Bailey, Sarah Wilson, Kristin Brown-Gentry, Robert Goodloe, Dana C Crawford
Kidney disease is a well-known health disparity in the United States where African Americans are affected at higher rates compared with other groups such as European Americans and Mexican Americans. Common genetic variants in the myosin, heavy chain 9, non-muscle (MYH9) gene were initially identified as associated with non-diabetic end-stage renal disease in African Americans, and it is now understood that these variants are in strong linkage disequilibrium with likely causal variants in neighboring APOL1. Subsequent genome-wide and candidate gene studies have suggested that MYH9 common variants among others are also associated with chronic kidney disease and quantitative measures of kidney function in various populations...
2016: Pacific Symposium on Biocomputing
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