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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, May 3, 2012 Volume 28 Number 18
Highlights of the Week:
Spotlight
New Blog Post: Genomic Tests and Population Health: An Online Catalog to Promote a Conversation on Evolving Evidence
Announcements
- May is Asthma Awareness Month
- NIH statement on World Asthma Day 2012 - May 1, 2012
- Statement by HHS Secretary Kathleen Sebelius on Asthma Awareness Month
- May is National Stroke Awareness Month
- May is Stroke Awareness Month; Know Your Risks, CDC Feature
- The next EGAPP working group meeting is being held on May 7-8 in Atlanta, GA
- Two new publications in PLoS Currents Evidence on Genomic Tests this week
- Genetic testing for long QT syndrome and the category of cardiac ion channelopathies
Modell S, Bradley D. PLoS Currents Evidence on Genomic Tests May 3
- Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Kingsmore S. PLoS Currents Evidence on Genomic Tests May 2
- Genetic testing for long QT syndrome and the category of cardiac ion channelopathies
- CDC paper: Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III).
Grimsby JL, et al. BMC Med Genet. 2012 Apr 27;13(1):30.
- Blog Post: Smoke Screen...Never Let Genetics Blind You to the Harsh Reality of Cigarettes
- Focus on Comparative Effectiveness Research for Evaluating and Implementing Genomics in Practice
- Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research
Goddard KA, et al. Genet Med 2012 Apr - Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies.
Deverka PA, Schully SD, et al. Genet Med. 2012 Apr 5. - Comparative effectiveness research and genomic medicine: An evolving partnership for 21st century medicine.
Khoury MJ, Rich EC, Randhawa G, et al. Genet Med. 2009 Sep 11.
- Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research
Genomic Pulse
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Since September 2009, we have identified 419 genomic tests which have been suggested for use in clinical practice. Almost all of these tests fall under tier 3 of our classification schema (not ready for practice). The online publication PLoS Currents Evidence on Genomic Tests features independent summary reviews of 23 genomic tests. To find out more, to submit reviews or join the conversation, click here.
Picks of the Week
- Toolkit for Congenital Disorders
- Genetic Variants and Measures of Tobacco Exposure
- Association Between Genetic Variants on Chromosome 15q25 Locus and Objective Measures of Tobacco Exposure.
Munafò MR, Timofeeva MN, Morris RW, et al. J Natl Cancer Inst. 2012 Apr 25. - Tobacco exposure and genetics linked to lung cancer risk, Medical News Today, April 27
- Association Between Genetic Variants on Chromosome 15q25 Locus and Objective Measures of Tobacco Exposure.
- Point-of-care genetic testing for personalisation of antiplatelet treatment
- Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial
Roberts JD, et al. Lancet2012 Mar - Pharmacogenetics: Point-of-care genetic testing-a new frontier explored
Barrett PM & Topol EJ Nat Rev Cardiol 2012 May
- Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial
Topics
Family Health History
Risk Factors for Breast Cancer for Women Aged 40 to 49 Years: A Systematic Review and Meta-analysis
Nelson HD, et al. Ann Intern Med 2012 May;156(9):635-48
Practice and Programs
'Cancer doesn’t have an age': Genetic testing and cancer risk management in BRCA1/2 mutation-positive women aged 18-24
Werner-Lin A, et al. Health (London) 2012 Apr
Genetic Counseling for Personal Genomic Testing: Optimizing Client Uptake of Post-Test Telephonic Counseling Services
Levin E, et al. J Genet Couns 2012 Apr
Policy and Legislation
Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
Tabor HK, et al. Am J Med Genet A 2012 Apr
The Challenges of Incorporating Genetic Testing in the Unified National Health System in Brazil
Melo DG & Sequeiros J Genet Test Mol Biomarkers 2012 Apr
Public Health Science
Deriving rules and assertions from pharmacogenomics knowledge resources in support of patient drug metabolism efficacy predictions
Overby CL, et al. J Am Med Inform Assoc 2012 Apr
Strategies to work with HLA data in human populations for histocompatibility, clinical transplantation, epidemiology and population genetics: HLA-NET methodological recommendations
Sanchez-Mazas A, et al. Int J Immunogenet 2012 Apr
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA, Davies MW, Dimster-Denk D, et al. Genetics. 2012 Apr;190(4):1309-23.
A genome-wide association study identifies susceptibility loci for Wilms tumor
Turnbull C, Perdeaux E, Pernet D, et al. Nature Genetics 2012 Apr 29
Genetic mutations linked to childhood kidney cancer, Medical News Today, May 1
Sleep Duration and Body Mass Index in Twins: A Gene-Environment Interaction
Watson N, Harden K, Buchwald D, et al. Sleep 2012; 35(5):597-603
Sleep lessens the effect genes have on weight, USA Today, May 1
188 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
Age-associated DNA methylation in pediatric populations
Alisch RS, Barwick BG, Chopra P, Myrick LK, Satten GA, Conneely KN, Warren ST. Genome Res. 2012 Apr;22(4):623-32.
Assessing the influence of 5,10-methylenetetrahydrofolate reductase polymorphism on folate stability during long-term frozen storage, thawing, and repeated freeze/thawing of whole blood
Fazili Z, Sternberg MR, Pfeiffer CM. Clin Chim Acta. 2012 Jun 14;413(11-12):966-72.
Chronic occupational exposure to arsenic induces carcinogenic gene signaling networks and neoplastic transformation in human lung epithelial cells
Stueckle TA, Lu Y, Davis ME, Wang L, Jiang BH, Holaskova I, Schafer R, Barnett JB, Rojanasakul Y. Toxicol Appl Pharmacol. 2012 Apr 13.
Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III).
Grimsby JL, Porneala BC, Vassy JL, Yang Q, Florez JC, Dupuis J, Liu T, Yesupriya A, Chang MH, Ned RM, Dowling NF, Khoury MJ, Meigs JB, Magic Investigators T. BMC Med Genet. 2012 Apr 27;13(1):30.
Rapid, simultaneous detection of Clostridium sordellii and Clostridium perfringens in archived tissues by a novel PCR-based microsphere assay: diagnostic implications for pregnancy-associated toxic shock syndrome cases
Bhatnagar J, Deleon-Carnes M, Kellar KL, Bandyopadhyay K, Antoniadou ZA, Shieh WJ, Paddock CD, Zaki SR. Infect Dis Obstet Gynecol. 2012 ;2012:972845.
View previous CDC-authored publications
Let's Go Surfing
Solving the genomic jigsaw puzzle, Scienceline, May 1
Telomeres in disease, The Scientist, May 1
UCSC launches cancer genomics data hub, Genome Web, May 1 [by free subscription only]
The DNA doctor will see you now: a 5-minute, near-future cartoon, Common Health, April 30
Events and Training
The Biology of Genomes
May 8-12 ~ Cold Spring Harbor, NY
27th Meeting of the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children
May 17-18 ~ Alexandria, VA
2nd Genomic and Proteomic Drug Discovery
May 29-31 ~ Boston, MA
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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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