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Personalized Medicine

Caroline Eden, Kipp W Johnson, Omri Gottesman, Erwin P Bottinger, Noura S Abul-Husn
AIM: The objective of this research was to assess medical student preparedness for the use of personalized medicine. MATERIALS & METHODS: A survey instrument measuring attitude toward personalized medicine, perceived knowledge of genomic testing concepts and perceived ability to apply genomics to clinical care was distributed to students in medical school (MS) years 1-4. RESULTS: Of 212 participants, 79% felt that it was important to learn about personalized medicine, but only 6% thought that their medical education had adequately prepared them to practice personalized medicine...
March 2016: Personalized Medicine
Nora Pashayan, Daniel Reisel, Martin Widschwendter
Common genetic susceptibility variants could be used for risk stratification in risk-tailored cancer screening and prevention programmes. Combining genetic variants with environmental risk factors would improve risk stratification. Epigenetic changes are surrogate markers of environmental exposures during individual's lifetime. Integrating epigenetic markers, in lieu of environmental exposure data, with genetic markers would potentially improve risk stratification. Epigenetic changes are reversible and acquired gradually, providing potentials for prevention and early detection strategies...
March 1, 2016: Personalized Medicine
Philip J Lupo, Jill O Robinson, Pamela M Diamond, Leila Jamal, Heather E Danysh, Jennifer Blumenthal-Barby, Lisa Soleymani Lehmann, Jason L Vassy, Kurt D Christensen, Robert C Green, Amy L McGuire
AIM: To evaluate patients' expectations regarding the perceived utility of whole-genome sequencing (WGS). MATERIALS & METHODS: We used latent class analysis to characterize individuals enrolled in the MedSeq Project based on their perceived utility of WGS. Multinomial logistic regression was used to evaluate associations between participant characteristics and latent classes. RESULTS: Findings characterized participants into one of three perceived utility groups: enthusiasts, who had a high probability of agreement with all utility items (23%); health conscious, who perceived utility in medically related areas (60%) or skeptics, who had a low probability of agreement with utility items (17%)...
January 1, 2016: Personalized Medicine
Brian A Kidd, Ben P Readhead, Caroline Eden, Samir Parekh, Joel T Dudley
The ability to collect millions of molecular measurements from patients is a now a reality for clinical medicine. This reality has created the challenge of how to integrate these vast amounts of data into models that accurately predict complex pathophysiology and can translate this complexity into clinically actionable outputs. Integrative informatics and data-driven approaches provide a framework for analyzing large-scale datasets and combining them into multiscale models that can be used to determine the key drivers of disease and identify optimal therapies for treating tumors...
June 1, 2015: Personalized Medicine
Christine M Formea, Wayne T Nicholson, Carolyn Rohrer Vitek
Personalized medicine offers the promise of better diagnoses, targeted therapies and individualized treatment plans. Pharmacogenomics is an integral component of personalized medicine; it aids in the prediction of an individual's response to medications. Despite growing public acceptance and emerging clinical evidence, this rapidly expanding field of medicine is slow to be adopted and utilized by healthcare providers, although many believe that they should be knowledgeable and able to apply pharmacogenomics in clinical practice...
March 2015: Personalized Medicine
Meagan B Myers, Karen L McKim, Fanxue Meng, Barbara L Parsons
AIM: This study quantified low-frequency KRAS mutations in normal lung and lung adenocarcinomas, to understand their potential significance in the development of acquired resistance to EGFR-targeted therapies. MATERIALS & METHODS: Allele-specific Competitive Blocker-PCR was used to quantify KRAS codon 12 GAT (G12D) and GTT (G12V) mutation in 19 normal lung and 21 lung adenocarcinoma samples. RESULTS: Lung adenocarcinomas had KRAS codon 12 GAT and GTT geometric mean mutant fractions of 1...
March 2015: Personalized Medicine
Kim M Unertl, Julie R Field, Lisa Price, Josh F Peterson
AIM: To describe the knowledge and attitudes of clinicians participating in a large pharmacogenomics implementation program. MATERIALS & METHODS: Semi-structured interviews with 15 physicians and nurse practitioners were conducted. RESULTS: Three categories of themes were identified: preparation and knowledge, pharmacogenomics usage in practice, and future management of genomic variants. Providers expressed an inability to keep up with the rapid pace of evidence generation and indicated strong support for clinical decision support to assist with genotype-tailored therapies...
2015: Personalized Medicine
Laura M Amendola, Denise Lautenbach, Sarah Scollon, Barbara Bernhardt, Sawona Biswas, Kelly East, Jessica Everett, Marian J Gilmore, Patricia Himes, Victoria M Raymond, Julia Wynn, Ragan Hart, Gail P Jarvik
Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from these tests. A goal of the Clinical Sequencing and Exploratory Research (CSER) consortium is to gain experience with this process to develop best practice recommendations for offering exome and genome testing and returning results. Genetic counselors in the CSER consortium have an integral role in the return of results from these genomic sequencing tests and have gained valuable insight...
2015: Personalized Medicine
Jason L Vassy, Kurt D Christensen, Melody J Slashinski, Denise M Lautenbach, Sridharan Raghavan, Jill Oliver Robinson, Jennifer Blumenthal-Barby, Lindsay Zausmer Feuerman, Lisa Soleymani Lehmann, Michael F Murray, Robert C Green, Amy L McGuire
AIM: To describe practicing physicians' perceived clinical utility of genome sequencing. MATERIALS & METHODS: We conducted a mixed-methods analysis of data from 18 primary care physicians and cardiologists in a study of the clinical integration of whole-genome sequencing. Physicians underwent brief genomics continuing medical education before completing surveys and semi-structured interviews. RESULTS: Physicians described sequencing as currently lacking clinical utility because of its uncertain interpretation and limited impact on clinical decision-making, but they expressed the idea that its clinical integration was inevitable...
2015: Personalized Medicine
Susan Garfeld, Michael P Douglas, Karen V MacDonald, Deborah A Marshall, Kathryn A Phillips
AIMS: Knowledge of consumer perspectives of personalized medicine (PM) is limited. Our study assessed consumer perspectives of PM, with a focus on oncology care, to inform industry, clinician and payer stakeholders' programs and policy. MATERIALS & METHODS: A nationally representative survey of 602 US consumers' ≥30 years old explored familiarity, perspectives and expected value of PM. RESULTS: Most (73%) respondents have not heard of 'personalized medicine,' though after understanding the term most (95%) expect PM to have a positive beneft...
January 1, 2015: Personalized Medicine
Kyle B Brothers, Mark A Rothstein
As research focused on personalized medicine has developed over the past decade, bioethics scholars have contemplated the ethical, legal and social implications of this type of research. In the next decade, there will be a need to broaden the focus of this work as personalized medicine moves into clinical settings. We consider two broad issues that will grow in importance and urgency. First, we analyze the consequences of the significant increase in health information that will be brought about by personalized medicine...
2015: Personalized Medicine
Nadia Hidayatallah, Louise B Silverstein, Marina Stolerman, Thomas McDonald, Christine A Walsh, Esma Paljevic, Lilian L Cohen, Robert W Marion, David Wasserman, Sarah Hreyo, Siobhan M Dolan
AIM: Genetic testing now makes it possible to identify specific mutations that may lead to life-threatening cardiac arrhythmias. This article presents data from a qualitative research study that explored the subjective experiences of individuals and families with cardiogenetic conditions. We focus on describing patients' experiences of psychological stresses associated with having a cardiogenetic condition, illustrating the importance of integrating psychological and medical care. This integration of care is particularly important as personalized genomic medicine continues to evolve and the implications of genetic testing have a profound effect on individuals and families...
September 1, 2014: Personalized Medicine
Eric R Londin, Peter Clark, Marialuisa Sponziello, Larry J Kricka, Paolo Fortina, Jason Y Park
AIM: We present the potential false-negative rate of exome sequencing for the detection of pharmacogenomic variants. MATERIALS & METHODS: Depth of coverage of 1928 pharmacogenomically relevant variant positions was ascertained from 62 exome-sequenced samples. RESULTS: Approximately 14% of the 1928 variant locations examined had inadequate depth of coverage (<20x). The variants with inadequate coverage were predominantly located outside of protein-coding portions and included some clinically relevant variant positions, such as the warfarin VKORC1 variant...
2014: Personalized Medicine
Sridharan Raghavan, Jason L Vassy
Significant technological improvements over the last decade have led to a vast expansion in the understanding of the genomic architecture of human disease. However, the use of genomic information, so-called genomic medicine, in routine clinical care, has been slow in comparison to the growth in genomic discovery. The uptake of genomic technology into clinical practice will depend on physicians' perspectives of its utility in patient care. We review recent literature addressing physician attitudes regarding the usefulness and limitations of genomic testing...
2014: Personalized Medicine
Vural Özdemir
Vural Özdemir began his career as a medical doctor in Turkey in 1990, as a scientist at the Faculty of Medicine, University of Toronto (ON, Canada), where he obtained his MSc and PhD in clinical pharmacology (1998), and subsequently completed a 4-year postdoctoral fellowship in personalized medicine with the late Werner Kalow, a founding pioneer in the field of pharmacogenetics. Özdemir contributed to the conception and development of the repeated drug administration (RDA) method as a novel way of measuring pharmacological heritability, pharmacogenetics of psychiatric drugs and studying the clinical role of CYP2D6 genetic variations for endogenous neurotransmitter metabolism in the human brain...
2014: Personalized Medicine
Manuel L Gonzalez-Garay
Moving from a traditional medical model of treating pathologies to an individualized predictive and preventive model of personalized medicine promises to reduce the healthcare cost on an overburdened and overwhelmed system. Next-generation sequencing (NGS) has the potential to accelerate the early detection of disorders and the identification of pharmacogenetics markers to customize treatments. This review explains the historical facts that led to the development of NGS along with the strengths and weakness of NGS, with a special emphasis on the analytical aspects used to process NGS data...
2014: Personalized Medicine
Isaac J Powell, Gregory Dyson, Sreenivasa R Chinni, Aliccia Bollig-Fischer
Genomic rearrangement and overexpression of the ERG oncogene (also known as v-ets avian erythroblastosis virus E26 oncogene homolog) is estimated to occur at a rate of 40-50% in prostate cancer. Early evidence suggests that ERG overexpression may be associated with disease progression, and the utilization of ERG levels as a biomarker for prostate cancer is being strongly considered. However, the evidence is incomplete because it relies on studies that primarily focused on men of European ancestry, giving little consideration to African-American men even though African-American men bear a greater disease burden in the form of significantly greater incidence and worse outcomes...
2014: Personalized Medicine
Ross A Okimoto, Trever G Bivona
The identification of molecular subtypes of non-small-cell lung cancer has transformed the clinical management of this disease. This is best exemplified by the clinical success of targeting the EGFR or ALK with tyrosine kinase inhibitors in the front-line setting. Our ability to further improve patient outcomes with biomarker-based targeted therapies will depend on a more comprehensive genetic platform that can rationally interrogate the cancer genome of an individual patient. Novel technologies, including multiplex genotyping and next-generation sequencing are rapidly evolving and will soon challenge the oncologist with a wealth of genetic information for each patient...
2014: Personalized Medicine
Benjamin E Berkman, Sara Chandros Hull, Lisa Eckstein
While the development of next-generation sequencing technology has had a paradigm-changing impact on biomedical research, there is likely to be a gap between discovery of therapeutic benefits in research and actual adoption of the new technology into clinical practice. This gap can create pressure on the research enterprise to provide individualized care more typical of the clinic setting because it is uniquely accessible in research. This blurring of the line between research and clinical care is understandable, and perhaps even inevitable...
2014: Personalized Medicine
Kelly E Ormond, Mildred K Cho
The integration of new genetic technologies into clinical practice holds great promise for the personalization of medical care, particularly the use of large-scale DNA sequencing for genome-wide genetic testing. However, these technologies also yield unprecedented amounts of information whose clinical implications are not fully understood, and we are still developing technical standards for measuring sequence accuracy. These technical and clinical challenges raise ethical issues that are similar to but qualitatively different from those that we are accustomed to dealing with for traditional medical genetics...
2014: Personalized Medicine
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