 For information on genomic applications in cancer care and prevention, please visit the CancerGEM Knowledge Base |
Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update includes CDC announcements, publications, blogs and other products. The Update also includes links to genomics and health impact news and publications. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science. To receive this update electronically every week sign-up here.
Thursday, April 5, 2012 Volume 28 Number 14
Highlights of the Week:
Spotlight
New CDC Recommendations Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders
Announcements
- April is Cancer Control Month
- The Association of State and Territorial Health Officials (ASTHO) posted five state case studies highlighting the role of genomics in public health
- Request for comments on issues of privacy and access with regard to human genome sequence data, Presidential Commission for the Study of Bioethical Issues, March 27
- DNA mapped in a day prompts U.S. review of genome ethics, Bloomberg Businessweek, March 26
- Blog Post: Evidence Matters in Genomic Medicine
Genomic Pulse
- More than 4 million babies born in the US every year are screened for inherited metabolic disorders. Good laboratory practices are the foundation for public health programs providing early recognition and timely intervention.
Picks of the Week
- Genomics and global health: the case of podoconiosis
- HLA class II locus and susceptibility to podoconiosis.
Ayele FT, Adeyemo A, Finan C, et al. N Engl J Med. 2012 Mar 29;366(13):1200-8. - Using a "genomics tool" to develop disease prevention strategy in a low-income setting: lessons from the podoconiosis research project.
Tekola Ayele F, Adeyemo A, Rotimi CN. J Community Genet. 2012 Mar 20.
- Researchers identify genetic basis of tropical foot and leg lymphedema, NIH News, March 28
- HLA class II locus and susceptibility to podoconiosis.
- Genetic testing for cardiomyopathy in clinical practice
- Genetic testing for dilated cardiomyopathy in clinical practice
Lakdawala NK, et al. J Card Fail 2012 Apr;18(4):296-303
- Genetic testing for dilated cardiomyopathy in clinical practice
- Universities swabbing students for genetics education?
- Swabbing students: should universities be allowed to facilitate educational DNA testing?
Callier SL Am J Bioeth 2012 Apr;12(4):32-40
- Swabbing students: should universities be allowed to facilitate educational DNA testing?
- Poor predictive capacity for personal genomic sequencing
- The Predictive Capacity of Personal Genome Sequencing
Roberts N, Vogelstein J, Parmigiani G, et al. Sci. Transl. Med.2012 Apr 2 - Gene sequencing not a crystal ball, but has value for some, Medscape, April 2 [by free subscription only]
- Study says DNA’s power to predict illness is limited, The New York Times, April 2
- How useful is whole genome sequencing to predict disease? Scientific American, April 2
- The Predictive Capacity of Personal Genome Sequencing
- Policy statement on genomic sequencing in practice
- Policy Statement: Points to Consider in the Clinical Application of Genomic Sequencing [PDF 155.10 KB], American College of Medical Genetics and Genomics
- American College of Medical Genetics and Genomics releases policy statement on genomic sequencing, ACMG, March 29
- Genetic testing for antiplatelet treatment
- Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial
Roberts J, Wells G, May M, et al. Lancet 2012 Mar 29 - World's first bedside genetic test gets green light by prestigious medical publication, EurekAlert, March 29
- RAPID GENE: Point-of-care genetic test singles out clopidogrel nonresponders, Medscape, March 29 [by free subscription only]
- Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial
Topics
Genomic Tests
Evidence-based path to newborn screening for duchenne muscular dystrophy
Mendell JR, et al. Ann Neurol 2012 Mar;71(3):304-13
PAX3/FOXO1 Fusion Gene Status Is the Key Prognostic Molecular Marker in Rhabdomyosarcoma and Significantly Improves Current Risk Stratification.
Missiaglia E, Williamson D, Chisholm J, et al. J Clin Oncol. 2012 Mar 26.
Genetic test may help tailor cancer treatment for children, Medical News Today, March 29
For more information on genomic applications in practice and prevention, please visit the GAPP Finder in the GAPP Knowledge Base and PLoS Currents Evidence on Genomic Tests.
Family Health History
Parenting Through Genetic Uncertainty: Themes in the Disclosure of Breast Cancer Risk Information to Children
Sharff M, DeMarco T, Mays D, et al. Genetic Testing and Molecular Biomarkers 2011 Nov 15
Should a genetic predisposition to breast cancer be disclosed to children? EurekAlert, April 2
Practice and Programs
Just how feasible is pharmacogenetic testing in the primary healthcare setting?
Swen JJ & Guchelaar HJ Pharmacogenomics 2012 Apr;13(5):507-9
Next-generation community genetics for low- and middle-income countries
Kingsmore SF, et al. Genome Med 2012 Mar;4(3):25
On the future of genetic risk assessment
Ropers HH J Community Genet 2012 Apr
Gene testing provides insight into disease risks, CBS News, April 2
Genome sequencing to add new twist to doctor-patient talks, American Medical News, April 2
Policy and Legislation
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe
Hastings R, et al. Eur J Hum Genet 2012 Mar
Presidential bioethics panel seeks input on sequencing-related issues, Genome Web, March 30 [by free subscription only]
Public Health Science
On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic Privacy
Im HK, et al. Am J Hum Genet 2012 Mar
BootstRatio: A web-based statistical analysis of fold-change in qPCR and RT-qPCR data using resampling methods.
Clèries R, Galvez J, Espino M, et al. Comput Biol Med. 2012 Apr;42(4):438-45.
A new application allows online statistical analysis of gene-expression data, Medical Xpress, April 3
Unhealthy behaviours influenced by genes and environment, CMAJ, April 3
The clonal and mutational evolution spectrum of primary triple-negative breast cancers
Shah S, Roth A, Goyz R, et al. Nature 2012 Apr 4
Genomic profiling reveals complexity and evolution of triple negative breast cancer tumors, Genome Web, April 5 [by free subscription only]
Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias.
Clarke R, Bennett DA, Parish S, et al. PLoS Med. 2012 Feb;9(2):e1001177.
Is homocysteine a CHD risk factor? The genetic view, Medscape, April 2 [by free subscription only]
The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity
Barretina J, Caponigro G, Stransky N, et al. 2012 Nature 483, 603-307 Mar 29
Huge cancer knowledge resource made public, Medical News Today, March 30
Systematic identification of genomic markers of drug sensitivity in cancer cells
Garnett M, Edelman E, Heidorn S, et al. Nature 2012; 483, 570-575 Mar 28
The path to personalised cancer treatment, Wellcome Trust Sanger, March 28
Therapeutic Hemoglobin Levels after Gene Transfer in β-Thalassemia Mice and in Hematopoietic Cells of β-Thalassemia and Sickle Cells Disease Patients
Breda L, Casu C, Gardenghi S, et al. PLoS One 2012;7(3):e32345
New gene therapy approach developed for red blood cell disorders, Science Daily, March 27
170 human genome epidemiology articles have recently been added, please visit the HuGE Literature Finder in the HuGE Navigator.
CDC-Authored Genomics Publications
CDC authors are indicated in bold
Analysis of influenza viruses from patients clinically suspected of infection with an oseltamivir resistant virus during the 2009 pandemic in the United States
Nguyen HT, Trujillo AA, Sheu TG, Levine M, Mishin VP, Shaw M, Ades EW, Klimov AI, Fry AM, Gubareva LV. Antiviral Res. 2012 Mar;93(3):381-6.
Bartonella bacteria in nature: where does population variability end and a species start?
Kosoy M, Hayman DT, Chan KS. Infect Genet Evol. 2012 Mar 23.
Characterization of multi-drug resistant Salmonella enterica serovar Heidelberg from a ground turkey-associated outbreak in the United States, 2011
Folster JP, Pecic G, Rickert R, Taylor J, Zhao S, Fedorka-Cray PL, Whichard J, McDermott P. Antimicrob Agents Chemother. 2012 Mar 26.
Epidemic history of hepatitis C virus infection in two remote communities in Nigeria, West Africa
Forbi JC, Purdy MA, Campo DS, Vaughan G, Dimitrova ZE, Ganova-Raeva LM, Xia GL, Khudyakov YE. J Gen Virol. 2012 Mar 28.
Experiences from the shiga toxin-producing escherichia coli O104:H4 outbreak in Germany and research needs in the field, Berlin, 28-29 November 2011
Stark K, Bauerfeind R, Bernard H, Eckmanns T, Ethelberg S, Flieger A, Giesecke J, Greiner M, Karch H, Krause G, Mielke M, O'Brien SJ, Pulz M, Scheutz F, Schielke A, Stahl RA, Takkinen J, Tarr PI, Tauxe RV, Werber D. Eurosurveillance. 2012 ;17(7).
Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009)
Weck KE, Zehnbauer B, Datto M, Schrijver I. Genet Med. 2012 Mar;14(3):306-12.
Molecular signatures associated with Mx1-mediated resistance to highly pathogenic influenza virus infection: mechanisms of survival
Cilloniz C, Pantin-Jackwood MJ, Ni C, Carter VS, Korth MJ, Swayne DE, Tumpey TM, Katze MG. J Virol. 2012 Mar;86(5):2437-46.
Pooling nasopharyngeal/throat swab specimens to increase testing capacity for influenza viruses by PCR
Van TT, Miller J, Warshauer DM, Reisdorf E, Jernigan D, Humes R, Shult PA. J Clin Microbiol. 2012 Mar;50(3):891-6.
View previous CDC-authored publications
Let's Go Surfing
Getting a head start: the importance of personal genetics education in high schools
Kung JT & Gelbart ME Yale J Biol Med 2012 Mar;85(1):87-92
UK Biobank resource now open to researchers, PHG Foundation, March 30
Biobank promises to pinpoint the cause of disease, New Scientist, March 30
1000 Genomes Project data available on Amazon Cloud, NIH News, March 29
Amazon Web Services’ Big Free Genetic Database, The New York Times, March 29
Personalized Medicine: A Competitor or an Upgrade of Evidence-based Medicine? Medscape, March 29
Events and Training
From Population Health to Personal Health
April 17-20 ~ Rome, Italy
Pharmacology & Pharmcogenomics for Nurses
April 27 ~ Fayetteville, NC
Ovarian Cancer: Prevention, Detection and Treatment of the Disease and Its Recurrence
May 10-11 ~ Pittsburgh, PA
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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC. Note that some links may become invalid over time.
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