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Journal of Personalized Medicine

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https://www.readbyqxmd.com/read/27827859/precision-health-economics-and-outcomes-research-to-support-precision-medicine-big-data-meets-patient-heterogeneity-on-the-road-to-value
#1
Yixi Chen, Gregory F Guzauskas, Chengming Gu, Bruce C M Wang, Wesley E Furnback, Guotong Xie, Peng Dong, Louis P Garrison
The "big data" era represents an exciting opportunity to utilize powerful new sources of information to reduce clinical and health economic uncertainty on an individual patient level. In turn, health economic outcomes research (HEOR) practices will need to evolve to accommodate individual patient-level HEOR analyses. We propose the concept of "precision HEOR", which utilizes a combination of costs and outcomes derived from big data to inform healthcare decision-making that is tailored to highly specific patient clusters or individuals...
November 2, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27801815/idicap-a-novel-tool-for-integrating-drug-intervention-based-on-cancer-panel
#2
Noelle Kosarek, Eric S Ho
Cancer is a heterogeneous disease afflicting millions of people of all ages and their families worldwide. Tremendous resources have been and continue to be devoted to the development of cancer treatments that target the unique mutation profiles of patients, namely targeted cancer therapy. However, the sheer volume of drugs coupled with cancer heterogeneity becomes a challenge for physicians to prescribe effective therapies targeting patients' unique genetic mutations. Developing a web service that allows clinicians as well as patients to identify effective drug therapies, both approved and experimental, would be helpful for both parties...
October 28, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27657137/implementing-personalized-medicine-in-the-academic-health-center
#3
EDITORIAL
Scott T Weiss
Recently we at Partners Health Care had a series of articles in the Journal of Personalized Medicine describing how we are going about implementing Personalized Medicine in an academic health care system [1-10].[...].
September 21, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26861400/serotonin-2a-receptor-snp-rs7330461-association-with-treatment-response-to-pomaglumetad-methionil-in-patients-with-schizophrenia
#4
Laura K Nisenbaum, AnnCatherine M Downing, Fangyi Zhao, Brian A Millen, Leanne Munsie, Bruce J Kinon, David H Adams, Juan Carlos Gomez, Michelle Ann Penny
This study aims to confirm the initial pharmacogenetic finding observed within the clinical proof-of-concept trial of an enhanced response to treatment with pomaglumetad methionil (LY2140023 monohydrate) in Caucasian schizophrenia patients homozygous for T/T at single nucleotide polymorphism rs7330461 in the serotonin (5-hydroxytryptamine) 2A receptor gene compared to A/A homozygous patients. The effect of the rs7330461 genotype on the response to pomaglumetad methionil treatment was assessed in three additional clinical trials and in an integrated analysis...
February 5, 2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27294961/implementation-of-electronic-consent-at-a-biobank-an-opportunity-for-precision-medicine-research
#5
Natalie T Boutin, Kathleen Mathieu, Alison G Hoffnagle, Nicole L Allen, Victor M Castro, Megan Morash, P Pearl O'Rourke, Elizabeth L Hohmann, Neil Herring, Lynn Bry, Susan A Slaugenhaupt, Elizabeth W Karlson, Scott T Weiss, Jordan W Smoller
The purpose of this study is to characterize the potential benefits and challenges of electronic informed consent (eIC) as a strategy for rapidly expanding the reach of large biobanks while reducing costs and potentially enhancing participant engagement. The Partners HealthCare Biobank (Partners Biobank) implemented eIC tools and processes to complement traditional recruitment strategies in June 2014. Since then, the Partners Biobank has rigorously collected and tracked a variety of metrics relating to this novel recruitment method...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27144585/personalized-medicine-in-the-u-s-and-germany-awareness-acceptance-use-and-preconditions-for-the-wide-implementation-into-the-medical-standard
#6
Kateryna Kichko, Paul Marschall, Steffen Flessa
The aim of our research was to collect comprehensive data about the public and physician awareness, acceptance and use of Personalized Medicine (PM), as well as their opinions on PM reimbursement and genetic privacy protection in the U.S. and Germany. In order to give a better overview, we compared our survey results with the results from other studies and discussed Personalized Medicine preconditions for its wide implementation into the medical standard. For the data collection, using the same methodology, we performed several surveys in Pennsylvania (U...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27136589/barriers-and-facilitators-to-adoption-of-genomic-services-for-colorectal-care-within-the-veterans-health-administration
#7
Nina R Sperber, Sara M Andrews, Corrine I Voils, Gregory L Green, Dawn Provenzale, Sara Knight
We examined facilitators and barriers to adoption of genomic services for colorectal care, one of the first genomic medicine applications, within the Veterans Health Administration to shed light on areas for practice change. We conducted semi-structured interviews with 58 clinicians to understand use of the following genomic services for colorectal care: family health history documentation, molecular and genetic testing, and genetic counseling. Data collection and analysis were informed by two conceptual frameworks, the Greenhalgh Diffusion of Innovation and Andersen Behavioral Model, to allow for concurrent examination of both access and innovation factors...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/27023617/personal-genome-sequencing-in-ostensibly-healthy-individuals-and-the-peopleseq-consortium
#8
REVIEW
Michael D Linderman, Daiva E Nielsen, Robert C Green
Thousands of ostensibly healthy individuals have had their exome or genome sequenced, but a much smaller number of these individuals have received any personal genomic results from that sequencing. We term those projects in which ostensibly healthy participants can receive sequencing-derived genetic findings and may also have access to their genomic data as participatory predispositional personal genome sequencing (PPGS). Here we are focused on genome sequencing applied in a pre-symptomatic context and so define PPGS to exclude diagnostic genome sequencing intended to identify the molecular cause of suspected or diagnosed genetic disease...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26927187/infrastructure-for-personalized-medicine-at-partners-healthcare
#9
Scott T Weiss, Meini Sumbada Shin
Partners HealthCare Personalized Medicine (PPM) is a center within the Partners HealthCare system (founded by Massachusetts General Hospital and Brigham and Women's Hospital) whose mission is to utilize genetics and genomics to improve the care of patients in a cost effective manner. PPM consists of five interconnected components: (1) Laboratory for Molecular Medicine (LMM), a CLIA laboratory performing genetic testing for patients world-wide; (2) Translational Genomics Core (TGC), a core laboratory providing genomic platforms for Partners investigators; (3) Partners Biobank, a biobank of samples (DNA, plasma and serum) for 50,000 Consented Partners patients; (4) Biobank Portal, an IT infrastructure and viewer to bring together genotypes, samples, phenotypes (validated diagnoses, radiology, and clinical chemistry) from the electronic medical record to Partners investigators...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26927186/bioinformatics-workflow-for-clinical-whole-genome-sequencing-at-partners-healthcare-personalized-medicine
#10
Ellen A Tsai, Rimma Shakbatyan, Jason Evans, Peter Rossetti, Chet Graham, Himanshu Sharma, Chiao-Feng Lin, Matthew S Lebo
Effective implementation of precision medicine will be enhanced by a thorough understanding of each patient's genetic composition to better treat his or her presenting symptoms or mitigate the onset of disease. This ideally includes the sequence information of a complete genome for each individual. At Partners HealthCare Personalized Medicine, we have developed a clinical process for whole genome sequencing (WGS) with application in both healthy individuals and those with disease. In this manuscript, we will describe our bioinformatics strategy to efficiently process and deliver genomic data to geneticists for clinical interpretation...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26927185/the-translational-genomics-core-at-partners-personalized-medicine-facilitating-the-transition-of-research-towards-personalized-medicine
#11
Ashley Blau, Alison Brown, Lisa Mahanta, Sami S Amr
The Translational Genomics Core (TGC) at Partners Personalized Medicine (PPM) serves as a fee-for-service core laboratory for Partners Healthcare researchers, providing access to technology platforms and analysis pipelines for genomic, transcriptomic, and epigenomic research projects. The interaction of the TGC with various components of PPM provides it with a unique infrastructure that allows for greater IT and bioinformatics opportunities, such as sample tracking and data analysis. The following article describes some of the unique opportunities available to an academic research core operating within PPM, such the ability to develop analysis pipelines with a dedicated bioinformatics team and maintain a flexible Laboratory Information Management System (LIMS) with the support of an internal IT team, as well as the operational challenges encountered to respond to emerging technologies, diverse investigator needs, and high staff turnover...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26927184/the-biobank-portal-for-partners-personalized-medicine-a-query-tool-for-working-with-consented-biobank-samples-genotypes-and-phenotypes-using-i2b2
#12
Vivian S Gainer, Andrew Cagan, Victor M Castro, Stacey Duey, Bhaswati Ghosh, Alyssa P Goodson, Sergey Goryachev, Reeta Metta, Taowei David Wang, Nich Wattanasin, Shawn N Murphy
We have designed a Biobank Portal that lets researchers request Biobank samples and genotypic data, query associated electronic health records, and design and download datasets containing de-identified attributes about consented Biobank subjects. This do-it-yourself functionality puts a wide variety and volume of data at the fingertips of investigators, allowing them to create custom datasets for their clinical and genomic research from complex phenotypic data and quickly obtain corresponding samples and genomic data...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26828522/the-changing-landscape-of-molecular-diagnostic-testing-implications-for-academic-medical-centers
#13
Heidi L Rehm, Elizabeth Hynes, Birgit H Funke
Over the last decade, the field of molecular diagnostics has undergone tremendous transformation, catalyzed by the clinical implementation of next generation sequencing (NGS). As technical capabilities are enhanced and current limitations are addressed, NGS is increasingly capable of detecting most variant types and will therefore continue to consolidate and simplify diagnostic testing. It is likely that genome sequencing will eventually serve as a universal first line test for disorders with a suspected genetic origin...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26805892/the-information-technology-infrastructure-for-the-translational-genomics-core-and-the-partners-biobank-at-partners-personalized-medicine
#14
Natalie Boutin, Ana Holzbach, Lisa Mahanta, Jackie Aldama, Xander Cerretani, Kevin Embree, Irene Leon, Neeta Rathi, Matilde Vickers
The Biobank and Translational Genomics core at Partners Personalized Medicine requires robust software and hardware. This Information Technology (IT) infrastructure enables the storage and transfer of large amounts of data, drives efficiencies in the laboratory, maintains data integrity from the time of consent to the time that genomic data is distributed for research, and enables the management of complex genetic data. Here, we describe the functional components of the research IT infrastructure at Partners Personalized Medicine and how they integrate with existing clinical and research systems, review some of the ways in which this IT infrastructure maintains data integrity and security, and discuss some of the challenges inherent to building and maintaining such infrastructure...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26805891/an-emerge-clinical-center-at-partners-personalized-medicine
#15
Jordan W Smoller, Elizabeth W Karlson, Robert C Green, Sekar Kathiresan, Daniel G MacArthur, Michael E Talkowski, Shawn N Murphy, Scott T Weiss
The integration of electronic medical records (EMRs) and genomic research has become a major component of efforts to advance personalized and precision medicine. The Electronic Medical Records and Genomics (eMERGE) network, initiated in 2007, is an NIH-funded consortium devoted to genomic discovery and implementation research by leveraging biorepositories linked to EMRs. In its most recent phase, eMERGE III, the network is focused on facilitating implementation of genomic medicine by detecting and disclosing rare pathogenic variants in clinically relevant genes...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26805890/information-technology-support-for-clinical-genetic-testing-within-an-academic-medical-center
#16
Samuel Aronson, Lisa Mahanta, Lei Lei Ros, Eugene Clark, Lawrence Babb, Michael Oates, Heidi Rehm, Matthew Lebo
Academic medical centers require many interconnected systems to fully support genetic testing processes. We provide an overview of the end-to-end support that has been established surrounding a genetic testing laboratory within our environment, including both laboratory and clinician facing infrastructure. We explain key functions that we have found useful in the supporting systems. We also consider ways that this infrastructure could be enhanced to enable deeper assessment of genetic test results in both the laboratory and clinic...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26784235/molecular-pathology-and-personalized-medicine-the-dawn-of-a-new-era-in-companion-diagnostics-practical-considerations-about-companion-diagnostics-for-non-small-cell-lung-cancer
#17
REVIEW
Till Plönes, Walburga Engel-Riedel, Erich Stoelben, Christina Limmroth, Oliver Schildgen, Verena Schildgen
Companion diagnostics (CDx) have become a major tool in molecular pathology and assist in therapy decisions in an increasing number of various cancers. Particularly, the developments in lung cancer have been most impressing in the last decade and consequently lung cancer mutation testing and molecular profiling has become a major business of diagnostic laboratories. However, it has become difficult to decide which biomarkers are currently relevant for therapy decisions, as many of the new biomarkers are not yet approved as therapy targets, remain in the status of clinical studies, or still have not left the experimental phase...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26784234/building-the-partners-healthcare-biobank-at-partners-personalized-medicine-informed-consent-return-of-research-results-recruitment-lessons-and-operational-considerations
#18
Elizabeth W Karlson, Natalie T Boutin, Alison G Hoffnagle, Nicole L Allen
The Partners HealthCare Biobank is a Partners HealthCare enterprise-wide initiative whose goal is to provide a foundation for the next generation of translational research studies of genotype, environment, gene-environment interaction, biomarker and family history associations with disease phenotypes. The Biobank has leveraged in-person and electronic recruitment methods to enroll >30,000 subjects as of October 2015 at two academic medical centers in Partners HealthCare since launching in 2010. Through a close collaboration with the Partners Human Research Committee, the Biobank has developed a comprehensive informed consent process that addresses key patient concerns, including privacy and the return of research results...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26751479/training-the-future-leaders-in-personalized-medicine
#19
Heather Mason-Suares, David A Sweetser, Neal I Lindeman, Cynthia C Morton
The era of personalized medicine has arrived, and with it a need for leaders in this discipline. This generation of trainees requires a cadre of new skill sets to lead the implementation of personalized medicine into mainstream healthcare. Traditional training programs no longer provide trainees with all the skills they will need to optimize implementation of this revolution now underway in medicine. Today's trainees must manage clinical teams, act as clinical and molecular diagnostic consultants, train other healthcare professionals, teach future generations, and be knowledgeable about clinical trials to facilitate genomic-based therapies...
2016: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/26610574/sex-race-and-age-differences-in-observed-years-of-life-healthy-life-and-able-life-among-older-adults-in-the-cardiovascular-health-study
#20
Stephen M Thielke, Paula H Diehr, Laura M Yee, Alice M Arnold, Ana R Quiñones, Heather E Whitson, Mini E Jacob, Anne B Newman
OBJECTIVE: Longevity fails to account for health and functional status during aging. We sought to quantify differences in years of total life, years of healthy life, and years of able life among groups defined by age, sex, and race. DESIGN: Primary analysis of a cohort study. SETTING: 18 years of annual evaluations in four U.S. communities. PARTICIPANTS: 5888 men and women aged 65 and older. MEASUREMENTS: Years of life were calculated as the time from enrollment to death or 18 years...
November 25, 2015: Journal of Personalized Medicine
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