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"Precision medicine" disparities

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https://www.readbyqxmd.com/read/29590280/the-emerging-clinical-neuroscience-of-autism-spectrum-disorder-a-review
#1
Rebecca A Muhle, Hannah E Reed, Katharine A Stratigos, Jeremy Veenstra-VanderWeele
Importance: Autism spectrum disorder (ASD) is a highly prevalent disorder, and community psychiatrists are likely to treat many individuals with ASD during their clinical practice. This clinical case challenge describes a routine evaluation of irritability and self-injury in a preschool-aged child who meets the criteria for ASD. The case also illustrates the importance of known risk factors for ASD, such as chromosomal deletion and prematurity. This clinical neuroscience article seeks to educate the clinician of current avenues of research that can inform and may already affect clinical practice for this patient, while providing a preview of research that may yield biological treatments for ASD within the next decade...
March 28, 2018: JAMA Psychiatry
https://www.readbyqxmd.com/read/29575600/genetic-counseling-globally-where-are-we-now
#2
Kelly E Ormond, Mercy Ygoña Laurino, Kristine Barlow-Stewart, Tina-Marié Wessels, Shelley Macaulay, Jehannine Austin, Anna Middleton
The genetic counseling profession is continuing to develop globally, with countries in various stages of development. In some, the profession has been in existence for decades and is increasingly recognized as an important provider of allied health, while in others it is just beginning. In this article, we describe the current global landscape of the genetic counseling specialty field's professional development. Using examples of the United States, United Kingdom, Canada, Australia, South Africa, and various countries in Asia, we highlight the following: (a) status of genetic counseling training programs, (b) availability of credentialing through government and professional bodies (certification, registration, and licensure), and potential for international reciprocity, (c) scope of clinical practice, and (d) health-care system disparities and cultural differences impacting on practice...
March 25, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29554880/underutilization-and-disparities-in-access-to-egfr-testing-among-medicare-patients-with-lung-cancer-from-2010-2013
#3
Julie A Lynch, Brygida Berse, Merry Rabb, Paul Mosquin, Rob Chew, Suzanne L West, Nicole Coomer, Daniel Becker, John Kautter
BACKGROUND: Tumor testing for mutations in the epidermal growth factor receptor (EGFR) gene is indicated for all newly diagnosed, metastatic lung cancer patients, who may be candidates for first-line treatment with an EGFR tyrosine kinase inhibitor. Few studies have analyzed population-level testing. METHODS: We identified clinical, demographic, and regional predictors of EGFR & KRAS testing among Medicare beneficiaries with a new diagnosis of lung cancer in 2011-2013 claims...
March 20, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29537309/pancreatic-cancer-subtypes-a-roadmap-for-precision-medicine
#4
Carolina Torres, Paul J Grippo
Pancreatic ductal adenocarcinoma (PDAC) is projected to become the second cause of cancer-related deaths by 2020. Although it has traditionally been approached as a disease, accumulated evidences point to the clinical heterogeneity of this disease, which translate into disparity in outcomes among the patients. Much emphasis has been put into patient classification introducing a platform for more tailored therapies. In the last 10 years, there have been important advances in the understanding of the molecular pathogenesis of PDAC, which has culminated with a comprehensive integrated genomic analysis from RNA expression profiles...
March 22, 2018: Annals of Medicine
https://www.readbyqxmd.com/read/29449090/clinical-and-molecular-characteristics-and-burden-of-kidney-cancer-among-hispanics-and-native-americans-steps-toward-precision-medicine
#5
Ken Batai, Andrew Bergersen, Elinora Price, Kieran Hynes, Nathan A Ellis, Benjamin R Lee
Cancer disparities in Native Americans (NAs) and Hispanic Americans (HAs) vary significantly in terms of cancer incidence and mortality rates across geographic regions. This review reports that kidney and renal pelvis cancers are unevenly affecting HAs and NAs compared to European Americans of non-Hispanic origin, and that currently there is significant need for improved data and reporting to be able to advance toward genomic-based precision medicine for the assessment of such cancers in these medically underserved populations...
February 12, 2018: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29389890/p450-pharmacogenetics-in-indigenous-north-american-populations
#6
REVIEW
Lindsay M Henderson, Katrina G Claw, Erica L Woodahl, Renee F Robinson, Bert B Boyer, Wylie Burke, Kenneth E Thummel
Indigenous North American populations, including American Indian and Alaska Native peoples in the United States, the First Nations, Métis and Inuit peoples in Canada and Amerindians in Mexico, are historically under-represented in biomedical research, including genomic research on drug disposition and response. Without adequate representation in pharmacogenetic studies establishing genotype-phenotype relationships, Indigenous populations may not benefit fully from new innovations in precision medicine testing to tailor and improve the safety and efficacy of drug treatment, resulting in health care disparities...
February 1, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29218899/precision-medicine-from-diplotypes-to-disparities-towards-improved-health-and-therapies
#7
Dana C Crawford, Alexander A Morgan, Joshua C Denny, Bruce J Aronow, Steven E Brenner
Precision medicine research efforts both in basic science discovery and clinical implementation are well underway and promise to provide individualized preventions and treatments, improving overall health care delivery. To achieve these goals, advances in data capture and analysis are needed spanning different types of 'omic and clinical data. The efforts to enhance precise treatments for all may accentuate healthcare disparities unless specific challenges are identified and addressed. This session of the 2018 Pacific Symposium on Biocomputing presents the latest developments in this transdisciplinary research space of genomics, medicine, and population health...
2018: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/29208398/future-cancer-research-priorities-in-the-usa-a-lancet-oncology-commission
#8
REVIEW
Elizabeth M Jaffee, Chi Van Dang, David B Agus, Brian M Alexander, Kenneth C Anderson, Alan Ashworth, Anna D Barker, Roshan Bastani, Sangeeta Bhatia, Jeffrey A Bluestone, Otis Brawley, Atul J Butte, Daniel G Coit, Nancy E Davidson, Mark Davis, Ronald A DePinho, Robert B Diasio, Giulio Draetta, A Lindsay Frazier, Andrew Futreal, Sam S Gambhir, Patricia A Ganz, Levi Garraway, Stanton Gerson, Sumit Gupta, James Heath, Ruth I Hoffman, Cliff Hudis, Chanita Hughes-Halbert, Ramy Ibrahim, Hossein Jadvar, Brian Kavanagh, Rick Kittles, Quynh-Thu Le, Scott M Lippman, David Mankoff, Elaine R Mardis, Deborah K Mayer, Kelly McMasters, Neal J Meropol, Beverly Mitchell, Peter Naredi, Dean Ornish, Timothy M Pawlik, Jeffrey Peppercorn, Martin G Pomper, Derek Raghavan, Christine Ritchie, Sally W Schwarz, Richard Sullivan, Richard Wahl, Jedd D Wolchok, Sandra L Wong, Alfred Yung
We are in the midst of a technological revolution that is providing new insights into human biology and cancer. In this era of big data, we are amassing large amounts of information that is transforming how we approach cancer treatment and prevention. Enactment of the Cancer Moonshot within the 21st Century Cures Act in the USA arrived at a propitious moment in the advancement of knowledge, providing nearly US$2 billion of funding for cancer research and precision medicine. In 2016, the Blue Ribbon Panel (BRP) set out a roadmap of recommendations designed to exploit new advances in cancer diagnosis, prevention, and treatment...
November 2017: Lancet Oncology
https://www.readbyqxmd.com/read/29158373/revisiting-expectations-in-an-era-of-precision-oncology
#9
Emily J Marchiano, Andrew C Birkeland, Paul L Swiecicki, Kayte Spector-Bagdady, Andrew G Shuman
As we enter an era of precision medicine and targeted therapies in the treatment of metastatic cancer, we face new challenges for patients and providers alike as we establish clear guidelines, regulations, and strategies for implementation. At the crux of this challenge is the fact that patients with advanced cancer may have disproportionate expectations of personal benefit when participating in clinical trials designed to generate generalizable knowledge. Patient and physician goals of treatment may not align, and reconciliation of their disparate perceptions must be addressed...
November 20, 2017: Oncologist
https://www.readbyqxmd.com/read/29147853/biospecimen-donation-among-black-and-white-breast-cancer-survivors-opportunities-to-promote-precision-medicine
#10
Vanessa B Sheppard, Alejandra Hurtado-de-Mendoza, Yun-Ling Zheng, Ying Wang, Kristi D Graves, Tania Lobo, Hanfei Xu, Yvonne Jennings, Dennis Tolsma, Martha Trout, Brandi E Robinson, Brittany McKinnon, Mahlet Tadesse
PURPOSE: Advances in precision medicine (PM) have potential to reduce and/or eliminate breast cancer disparities in both treatment and survivorship. However, compared to white Americans, black Americans are often underrepresented in genetic research. This report assessed factors that influence receipt of buccal cells via saliva kits. METHODS: This prospective study recruited women with confirmed hormonal-positive (HR+) breast cancer (BC). A standardized telephone survey collected sociodemographic, socio-cultural (e...
November 16, 2017: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/29140597/improving-omics-based-research-and-precision-health-in-minority-populations-recommendations-for-nurse-scientists
#11
Jacquelyn Y Taylor, Veronica Barcelona de Mendoza
PURPOSE: The purpose of this article is to provide an overview of the role of nurse scientists in -omics-based research and to promote discussion around the conduct of -omics-based nursing research in minority communities. Nurses are advocates, educators, practitioners, scientists, and researchers, and are crucial to the design and successful implementation of -omics studies, particularly including minority communities. The contribution of nursing in this area of research is crucial to reducing health disparities...
January 2018: Journal of Nursing Scholarship
https://www.readbyqxmd.com/read/29110760/apolipoprotein-l1-gene-effects-on-kidney-transplantation
#12
REVIEW
Barry I Freedman, Jayme E Locke, Amber M Reeves-Daniel, Bruce A Julian
The pathogenesis of many common etiologies of nephropathy has been informed by recent molecular genetic breakthroughs. It now is apparent that the ethnic disparity in the risk for nondiabetic chronic kidney disease between African Americans and European Americans is explained largely by variation in the apolipoprotein L1 gene (APOL1). The presence of two APOL1 renal risk variants markedly increases an individual's risk for kidney disease. In transplantation, kidneys from deceased African Americans with two APOL1 renal risk variants have shorter survival intervals after engraftment, regardless of the ethnicity of the recipient...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29064337/david-bowie-and-the-art-of-slow-innovation-a-fast-second-winner-strategy-for-biotechnology-and-precision-medicine-global-development
#13
Vural Özdemir, George P Patrinos
Original ideas and innovation cannot always be ordered like a courier service and delivered fresh to our desk at 9 am. Yet, most creativity-based organizations, careers, and professions, science and biotechnology innovation included, emphasize the speed as the prevailing ideology. But a narrow focus on speed has several and overlooked shortcomings. For example, it does not offer the opportunity to draw from, and stitch together disparate concepts and practices for truly disruptive innovation. Preventing false starts, learning from others' or our own mistakes, and customizing innovations for local community needs are difficult in a speed-hungry innovation ecosystem...
November 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28852561/barred-from-better-medicine-reexamining-regulatory-barriers-to-the-inclusion-of-prisoners-in-research
#14
Elaine Huang, Jacqueline Cauley, Jennifer K Wagner
In 2015, President Obama announced plans for the Precision Medicine Initiative(®) (PMI), an ambitious longitudinal project aimed at revolutionizing medicine. Integral to this Initiative is the recruitment of over one million Americans into a volunteer research cohort, the All of Us(SM) Research Program. The announcement has generated much excitement but absent is a discussion of how the All of Us Research Program-to be implemented within the context of social realities of mass incarcerations and racial disparities in criminal justice and healthcare-might excaberate health disparities...
April 2017: Journal of Law and the Biosciences
https://www.readbyqxmd.com/read/28815129/sdt-a-tree-method-for-detecting-patient-subgroups-with-personalized-risk-factors
#15
Xiangrui Li, Dongxiao Zhu, Ming Dong, Milad Zafar Nezhad, Alexander Janke, Phillip D Levy
Eradicating health disparity is a new focus for precision medicine research. Identifying patient subgroups is an effective approach to customized treatments for maximizing efficiency in precision medicine. Some features may be important risk factors for specific patient subgroups but not necessarily for others, resulting in a potential divergence in treatments designed for a given population. In this paper, we propose a tree-based method, called Subgroup Detection Tree (SDT), to detect patient subgroups with personalized risk factors...
2017: AMIA Summits on Translational Science Proceedings
https://www.readbyqxmd.com/read/28807841/racial-disparity-in-gastrointestinal-cancer-risk
#16
REVIEW
Hassan Ashktorab, Sonia S Kupfer, Hassan Brim, John M Carethers
Cancer from the gastrointestinal tract and its associated excretory organs will occur in more than 300,000 Americans in 2017, with colorectal cancer responsible for >40% of that burden; there will be more than 150,000 deaths from this group of cancers in the same time period. Disparities among subgroups related to the incidence and mortality of these cancers exist. The epidemiology and risk factors associated with each cancer bear out differences for racial groups in the United States. Esophageal adenocarcinoma is more frequent in non-Hispanic whites, whereas esophageal squamous cell carcinoma with risk factors of tobacco and alcohol is more frequent among blacks...
October 2017: Gastroenterology
https://www.readbyqxmd.com/read/28771252/precision-medicine-health-disparities-and-ethics-the-case-for-disability-inclusion
#17
Maya Sabatello
No abstract text is available yet for this article.
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28757202/leveraging-multi-ethnic-evidence-for-risk-assessment-of-quantitative-traits-in-minority-populations
#18
Marc A Coram, Huaying Fang, Sophie I Candille, Themistocles L Assimes, Hua Tang
An essential component of precision medicine is the ability to predict an individual's risk of disease based on genetic and non-genetic factors. For complex traits and diseases, assessing the risk due to genetic factors is challenging because it requires knowledge of both the identity of variants that influence the trait and their corresponding allelic effects. Although the set of risk variants and their allelic effects may vary between populations, a large proportion of these variants were identified based on studies in populations of European descent...
August 3, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28745447/commentary-perspectives-on-alcohol-related-gene-and-environment-interplay-in-diverse-populations
#19
Marcia S Scott
BACKGROUND AND OBJECTIVES: Racial/ethnic groups comprise more than 20% of the U.S. population, but many experience disproportionately high risk for alcohol misuse, often resulting in higher rates of alcohol-associated consequences. Completion of mapping the human genome has launched rapidly evolving research methods aimed at improved understanding of genetic contribution to disease. Despite decades of research on the influence of genetic and environmental risks on alcohol use disorders and outcomes, few studies have included racial/ethnic subpopulations in sufficient numbers to allow for proper statistical analysis...
August 2017: American Journal on Addictions
https://www.readbyqxmd.com/read/28592923/omics-based-molecular-techniques-in-oral-pathology-centred-cancer-prospect-and-challenges-in-africa
#20
REVIEW
Henry A Adeola, Olujide O Soyele, Anthonio O Adefuye, Sikiru A Jimoh, Azeez Butali
BACKGROUND: The completion of the human genome project and the accomplished milestones in the human proteome project; as well as the progress made so far in computational bioinformatics and "big data" processing have contributed immensely to individualized/personalized medicine in the developed world. MAIN BODY: At the dawn of precision medicine, various omics-based therapies and bioengineering can now be applied accurately for the diagnosis, prognosis, treatment, and risk stratification of cancer in a manner that was hitherto not thought possible...
2017: Cancer Cell International
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