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Personalized Medicine

Sarah A Walser, Allison Werner-Lin, Rebecca Mueller, Victoria A Miller, Sawona Biswas, Barbara A Bernhardt
AIM: This study provides preliminary data on the process and content of returning results from exome sequencing offered to children through one of the Clinical Sequencing Exploratory Research (CSER) projects. MATERIALS & METHODS: We recorded 25 sessions where providers returned diagnostic and secondary sequencing results to families. Data interpretation utilized inductive thematic analysis. RESULTS: Typically, providers followed a results report and discussed diagnostic findings using technical genomic and sequencing concepts...
September 2017: Personalized Medicine
Cheryl Eifert, Angeliki Pantazi, Ruobai Sun, Jia Xu, Pablo Cingolani, Joerg Heyer, Meaghan Russell, Maria Lvova, Jennifer Ring, Julie Y Tse, Stephen Lyle, Alexei Protopopov
AIM: Develop and apply a comprehensive and accurate next-generation sequencing based assay to help clinicians to match oncology patients to therapies. MATERIALS & METHODS: The performance of the CANCERPLEX(®) assay was assessed using DNA from well-characterized routine clinical formalin-fixed paraffin-embedded (FFPE) specimens and cell lines. RESULTS: The maximum sensitivity of the assay is 99.5% and its accuracy is virtually 100% for detecting somatic alterations with an allele fraction of as low as 10%...
July 2017: Personalized Medicine
Deborah A Marshall, Karen V MacDonald, Jill Oliver Robinson, Lisa F Barcellos, Milena Gianfrancesco, Monica Helm, Amy McGuire, Robert C Green, Michael P Douglas, Michael A Goldman, Kathryn A Phillips
AIM: Since whole-genome sequencing (WGS) information can have positive and negative personal utility for individuals, we examined predictors of willingness to pay (WTP) for WGS. PATIENTS & METHODS: We surveyed two independent populations: adult patients (n = 203) and college seniors (n = 980). Ordinal logistic regression models were used to characterize the relationship between predictors and WTP. RESULTS: Sex, age, education, income, genomic knowledge and knowing someone who had genetic testing or having had genetic testing done personally were associated with significantly higher WTP for WGS...
May 2017: Personalized Medicine
Elizabeth J Davis, Douglas B Johnson
"The role of next-generation sequencing to determine appropriateness of anti-PD1/PD-L1 therapy needs further investigation, but has shown promise in predicting response and survival in melanoma and urothelial carcinoma."
May 2017: Personalized Medicine
Clay Cockerell, Jaime Tschen, Steven D Billings, Brent Evans, Krystal Brown, Colleen Rock, Loren E Clarke
AIM: The effect of a gene-expression-based test on treatment of melanocytic neoplasms by dermatologists was evaluated. PATIENTS & METHODS: Pathologists submitted diagnostically challenging melanocytic neoplasms to a clinical laboratory for testing accompanied by pretest surveys documenting the intended treatment recommendations. The actual treatment rendered by dermatologists was then documented after testing. Changes between the pretest recommendations and actual treatment were analyzed...
March 2017: Personalized Medicine
Alain Moreau
No abstract text is available yet for this article.
March 2017: Personalized Medicine
Sarah A McGraw, Judy Garber, Pasi A Jänne, Neal Lindeman, Nelly Oliver, Lynette M Sholl, Eliezer M Van Allen, Nikhil Wagle, Levi A Garraway, Steven Joffe, Stacy W Gray
AIM: To understand how a cancer precision medicine tumor board (CPM-TB) made choices about return of results. MATERIALS & METHODS: Observed CPM-TB deliberations and completed in-depth interviews with committee members. RESULTS: Responding to complex evidence of ambiguous significance, deliberations of the CPM-TB were predicated on analytic validity and clinical utility. Members had concerns both about potential harms due to returning results based on weak evidence and about withholding potentially meaningful results...
January 2017: Personalized Medicine
Silvia Camporesi, Giulia Cavaliere
This paper provides an overview of the ethical issues in the international clustered regularly interspaced short palindromic repeats (CRISPR) genome editing debate from March 2015 to September 2016. We present the regulatory framework for embryo research in the UK, and explain why CRISPR is not a significant break with the past. We discuss the ethical issues arising from CRISPR applications beyond human embryos, namely the use of gene drive-engineered mosquitoes to eradicate diseases, engineering nonhuman animals to harvest organs for human transplant and engineering crops...
November 2016: Personalized Medicine
Soren H Hough, Ayokunmi Ajetunmobi, Leigh Brody, Neil Humphryes-Kirilov, Edward Perello
Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine...
November 2016: Personalized Medicine
Youssef M Roman, Kathleen A Culhane-Pera, Jeremiah Menk, Robert J Straka
AIM: Hyperuricemia commonly causes gout. Minnesota Hmong exhibit a two- to fivefold higher prevalence of gout versus non-Hmong. To elucidate a possible genomic contribution to this disparity, prevalence of risk alleles for hyperuricemia in Hmong was compared with European (CEU) and Han-Chinese (CHB). METHODS: In total, 235 Hmong were genotyped for eight SNPs representing five candidate genes (SLC22A12, SLC2A9, ABCG2, SLC17A1 and PDZK1). RESULTS: The frequency of seven out of eight risk alleles in the Hmong was significantly different than CEU; six higher and one with lower prevalence...
September 2016: 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
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