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, February 28, 2013 Volume 30 Number 9
Evidence Matters in Genomic Medicine
New recommendation from the EGAPP working group: Can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? Genetics in Medicine Feb 21
What is EGAPP? Independent multidisciplinary panel that has established and evaluated a systematic, evidence-based process for assessing genomic tests in transition from research to clinical and public health practice
Stratified screening based on genetic testing is a radically new approach to prevention-Stratified cancer screening: The practicalities of implementation. Dent T, et al. Public Health Genomics. 2013 Jan 26.
How can polygenic inheritance be used in population screening for common diseases. Khoury MJ et al. Genetics in Medicine Feb 14, 2013
Improving screening for breast and prostate cancer with genetic data, PHG Foundation, Feb 21
Incorporating genomics into breast and prostate cancer screening: assessing the implications. Chowdhury S et al. Genetics in Medicine Feb 14, 2013
Population-based screening in the era of genomics. Pashayan N, Pharoah P. Per Med. 2012 Jun;9(4):451-455.
Toxic Substances, Genomics and Human Health
CDC feature: ATSDR's toxic substances web portal Find information about toxic chemicals and related health effects. Learn how toxic substances can affect health and how to prevent exposure
HuGE Navigator: Genetic susceptibility to toxic substances-Search the scientific literature on how human genetic variation affects susceptibility to health effects from toxic exposures (Enter the name of the toxic chemical and search database by year, gene, disease and author)
CDC article: Interaction of occupational and personal risk factors in workforce health and safety. Schulte P et al. Am J Publ Health 2012
CDC article: The contributions of genetics and genomics to occupational safety and health.Schulte P. Occup Environ Med.
CDC article: Recommendations and proposed guidelines for assessing the cumulative evidence on joint effects of genes and environments on cancer occurrence in humans. Int J Epidemiol 2012. Boffetta P et al.
Electronic Health Records, Genomic Medicine and Public Health
Leveraging the electronic health record to implement genomic medicine
Kullo IJ. Genetics in Medicine Sept 2012
Expansion of electronic health record-based screening, prevention, and management of diabetes in New York City [PDF 212.26 KB]
Albu J, et al. Prev Chron Disease Jan 2013
As EHR use grows, new patient safety risks identified, American Medical News, Feb. 25
Early results of the meaningful use program for electronic health records
N Engl J Med 2013; 368:779-780 Febr 21
Genetic Testing in Children
Kids and DNA New Guidelines for Genetic Testing in Children- By Bonnie Rochman, Time, Feb. 21, 2013
Ethical and policy issues in genetic testing and screening of children.
Committee On Bioethics; Committee On Genetics; The American College Of Medical Genetics; Genomics Social; Ethical; Legal Issues Committee. Pediatrics. 2013 Feb 21
Technical report: ethical and policy issues in genetic testing and screening of children.
Ross LF, Saal HM, David KL, et al. Genet Med. 2013 Feb 21.
- PHG Foundation: A commentary on the AAP and ACMG policy statement on ethical and policy issues in genetic testing and screening of children
CDC podcast: Cascade screening for familial hypercholesterolemia
Texas mother's heart attack at 40 saves her son's life. ABC News Feb 22
Familial Hypercholesterolemia Foundation: Faces of FH
CDC information: Classic Creutzfeldt-Jakob Disease
CDC information: Variant Creutzfeldt-Jakob Disease
National Institute of Neurological Disorders and Stroke: About 5 to 10 percent of cases in the United States are hereditary. In hereditary Creutzfeldt-Jakob Disease , the person has a family history of the disease and/or tests positive for a genetic mutation associated with disease
15 genes have been reported with Creutzfeldt-Jakob Disease, including 2 genomewide association studies/ The most known gene is the prion protein PRNP. To find out more, visit the HuGE Navigator
Genetic variation in prion protein PRNP has been associated with several human diseases. To find out more, visit the HuGENavigator
NIH Information: Nearly 7,000 rare diseases affect nearly 25 million Americans. Find out more
Senate Resolution 57--Designating February 28, 2013, as "Rare Disease Day"-- (Senate - February 26, 2013)
Feb 28 is 6th international Rare Disease Day: Video
Jeans for Genes: It's Rare Disease Day! Watch films to understand how genetic disorders affect children
Rare Disease Day: What 5 kids with low vision CAN do, By Ricki Lewis, PhD PLoS Blogs Posted: February 28, 2013
- Making this a land for you and me, Francis Collins, NIH Director Blog Feb 28
Advances in Genome Biology and Technology (AGBT13): Annual Conference Feb 20-23: Conference Highlights
New York Genome Center Blog by C Rizk, Feb 20: AGBT13 meeting shows record attendance
AGBT 2013 First Day Link Roundup Feb 21 by nextgenseek
Day Two AGBT speakers address clinical genomics. By C Rizk, Feb 21
At AGBT: sequencing takes center stage. C Rizk, Feb 22
NIH National Institute for Allergy and Infectious Diseases: Genomic Centers for Infectious Diseases (letter of intent May 24, 2013): A collaborative program that will use a combination of next generation sequencing and related genomic technologies, bioinformatics capabilities and computational analyses, with a focus on the pathogen and its interaction with the host.
Does positive family history of prostate cancer increase the risk of prostate cancer on initial prostate biopsy?
Elshafei A, et al. Urology 2013 Feb
Drug-gene modeling in pediatric t-cell acute lymphoblastic leukemia highlights importance of 6-mercaptopurine for outcome
Beesley AH, et al. Cancer Res 2013 Feb
Gene expression profiling and expanded immunohistochemistry tests to guide the use of adjuvant chemotherapy in early breast cancer management: MammaPrint, Oncotype DX, IHC4 and Mammostrat [PDF 392.01 KB]
UK's NICE recommends use of genomic health's OncoType DX in draft guidance, Genome Web, Feb 19 [by free subscription only]
Melanoma genetic testing, counseling, and adherence to skin cancer prevention and detection behaviors.
Glanz KL, Volpicelli K, Kanetsky PA, et al. Cancer Epidemiol Biomarkers Prev. 2013 Feb 7.
Modes of delivery of genetic testing services and the uptake of cancer risk management strategies in BRCA1 and BRCA2 carriers
Pal T, et al. Clin Genet 2013 Feb
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.
Gracia-Aznarez FJ et al. PLoS One. 2013;8(2):e55681
Insight: Cancer drugs proving worth earlier in testing, Reuters, Feb 25
The ethical introduction of genome-based information and technologies into public health
Howard HC, et al. Public Health Genomics 2013 Feb
New guidelines on testing kids’ DNA–the Cliff’s Notes version, Scientific American By Ricki Lewis Feb 21
Test now, share now Christine Jahnke and Sharon F. Terry. Genetic Testing And Molecular Biomarkers. 2013, vol 2
Should we prohibit genetically engineered babies? by NPR Staff Feb 19
Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome.
McGorrian C et al. Europace. 2013 Feb 3.
"You don't have to keep everything on paper": African American women's use of family health history tools.
Thompson T, Seo J, Griffith J, Baxter M, James A, Kaphingst KA. J Community Genet. 2013 Feb 9
Genomics in Practice
Deaf genetic testing and psychological well-being in deaf adults
Palmer CG, et al. J Genet Couns 2013 Feb
Guidelines and Recommendations
Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update
Relling MV, et al. Clin Pharmacol Ther 2013 Jan
Newborn screening for lysosomal storage disorders in Hungary
Wittmann J, et al. JIMD Rep 2012;6:117-25
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Sarkissian CN, et al. JIMD Rep 2012;5:59-70
Policy and Legislation
Bill seeking greater genetic privacy protection reintroduced in California, Genome Web, Feb 22 [by free subscription only]
Public Health Sciences
A collaboratively-derived science-policy research agenda.
Sutherland WJ et al. PLoS One. 2012;7(3):e31824. Mar 9.
EpiHealth: a large population-based cohort study for investigation of gene-lifestyle interactions in the pathogenesis of common diseases
Lind L, et al. Eur J Epidemiol 2013 Feb
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
Cross-Disorder Group of the Psychiatric Genomics Consortium The Lancet, Early Online Publication, 28 Feb
Initial development and validation of a mitochondrial disease quality of life scale
Elson JL, et al. Neuromuscul Disord 2013 Feb
SYMPHONY, an information-theoretic method for gene–gene and gene–environment interaction analysis of disease syndromes. Knights J et al. Heredity, Feb 20
Socioeconomic status, health behavior, and leukocyte telomere length in the National Health and Nutrition Examination Survey, 1999-2002
Belinda L. Needham et al. Soc Sci Med Feb 2013
Using genetics to enable studies on the prevention of Alzheimer's disease
Crenshaw DG, et al. Clin Pharmacol Ther 2013 Feb;93(2):177-85
Genetic evaluation procedures at sperm banks in the United States.
Isley L, Callum P. Fertil Steril. 2013 Feb 5.
Reviews and Commentaries on Science & Technology
Do You Know Genetics? PLoS Blogs Feb 22
Genomic instability in cancer, An article series from Nature Reviews Cancer
Bridging the transgenerational gap with epigenetic memory. By Jana P. Lim, Anne Brunet. Trends in Genetics Feb 2013
DNA's double helix: 60 years since life's deep molecular secret was discovered. Maddox G, The Guardian, Feb 22
The Implications of Clonal Genome Evolution for Cancer Medicine
Samuel Aparicio, B.M., B.Ch., Ph.D., and Carlos Caldas, M.D. N Engl J Med 2013; 368:842-851
Taking the gamble out of DNA sequencing: how much can be learned in a large-scale experiment, Science Daily News Feb. 24, 2013
The microbiome explored: recent insights and future challenges
Martin Blaser et al. Nature Reviews Microbiology, Mar 2013
Theranostics, the 21st century bioeconomy and ‘one health’.
Expert Review of Molecular Diagnostics Nov 2012.
Values in translation: how asking the right questions can move translational science toward greater health impact. Kelley M et al.Clin Transl Sci. 2012 Dec;5(6):445-51
National Human Genome Research Institute: Genome advance of the month: Fitting the National Archives in your pocket By Joy Yang
When genetic testing can be dangerous to your health, Oprah Magazine, March 2013
The abuse of ancestry testing is bad for personal genomics By Razib Khan, Feb 25 Discover Magazine
At more colleges, classes on genetics get personal, Associated Press February 27, 2013
Cancer genomes: Broader and deeper
Nature Genetics Volume: 45, Page: 227 (2013) Feb 26
CDC authors are indicated in bold
Rapid hepatitis C virus divergence among chronically infected individuals
Cruz-Rivera M, Carpio-Pedroza JC, Escobar-Gutierrez A, Lozano D, Vergara-Castaneda A, Rivera-Osorio P, Martinez-Guarneros A, Chacon CA, Fonseca-Coronado S, Vaughan G. J Clin Microbiol. 2013 Feb;51(2):629-32.
How can polygenic inheritance be used in population screening for common diseases?
Khoury MJ, Janssens AC, Ransohoff DF. Genet Med. 2013 Feb 14.
Field evaluation of a broadly sensitive HIV-1 in-house genotyping assay for use with both plasma and dried blood spot specimens in a resource-limited country
Inzaule S, Yang C, Kasembeli A, Nafisa L, Okonji J, Oyaro B, Lando R, Mills LA, Laserson K, Thomas T, Nkengasong J, Zeh C. J Clin Microbiol. 2013 Feb;51(2):529-39.
Zoonotic Cryptosporidium species and Enterocytozoon bieneusi genotypes in HIV-positive patients on antiretroviral therapy
Wang L, Zhang H, Zhao X, Zhang L, Zhang G, Guo M, Liu L, Feng Y, Xiao L. J Clin Microbiol. 2013 Feb;51(2):557-63.
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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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