Genomics & Health Impact Update
The Update includes genomics and health impact news and publications, CDC announcements, reports, blogs, podcasts, and other products. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science. To receive the update electronically every week sign-up here.
Volume 30 Number 15 April 11-18, 2013
JAMA Issue on Genomic Medicine-10th Anniversary of Completion of the Human Genome Project
- CDC blog post: Walking before running: Genomic medicine 10 years after the Human Genome Project
Selected Articles from the JAMA Apr 10, 2013 issue:
- Realizing the opportunities of genomics in health care.
Geoffrey S. Ginsburg
- Genomic medicine, health information technology, and patient care
Chute CG, Kohane IS
- Accessing genomic medicine: Affordability, diffusion, and disparities.
Tuckson RV et al.
- Preparing for the 21st-century patient.
- New approaches to molecular diagnosis.
Korf BR, Rehm HL.
- Metagenomics, infectious disease diagnostics, and outbreak investigations: Sequence first, ask questions later?
David A. Relman
- Genomics in Medicine: Maturation, but not maturity.
- CDC paper: The role of human genomics in public health preparedness for infectious threats.
Dowling N et al. Genome Medicine
- HHS paper: The case for integrating research into public health emergency response.
Lurrie N, et al. New England J Med March 2013
Binning the Human Genome: Reporting Incidental Findings in Clinical Genome Sequencing
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing [PDF 342.83 KB]
Robert C. Green, Jonathan S. Berg, Wayne W. Grody, et al. ACMG
- CDC blog post: On spinning wheels and genomes revealed: Sequencing is no longer a sleeping controversy
- New EGAPP paper: Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies [PDF 656.44 KB]
Katrina A.B. Goddard et al. Genetics in Medicine, Apr 4
- CDC blog post: Can we have our genome and eat it too? One base pair at at time
CDC Tips Campaign 2013
- CDC information: Tips from former smokers 2013 campaign
- CDC information: For every 1 person who dies from tobacco use, another 20 suffer from serious smoking illness, more than 8.6 million in the US
- When you smoke, you aren't just harming yourself. Quit for someone else-tips from previous smoker
- If you have a family history of smoking-related conditions, you are at increased risk of these conditions if you smoke-quit now
- But my great aunt smoked every day and lived to be 100”. Genetics will not protect you from the harsh reality of smoking-quit now, CDC blog post (2012)
Cancer Epidemiology in the 21st Century
- A series of commentaries on advancing epidemiologic science in the 21st century published in Cancer Epidemiology Biomarkers and Prevention (Apr, 2013)
- Cultivating cohort studies for observational translational research.
David F. Ransohoff. CEBP (Apr 2013)
- Bridging the Gap between Biologic, Individual, and Macroenvironmental Factors in Cancer: A Multilevel Approach.
Shannon M. Lynch and Timothy R. Rebbeck. CEBP (Apr 2013)
- Identifying opportunities for future research in genes and environment in cancer.
Armen A. Ghazarian et al (Apr, 2013)
- Transforming epidemiology for 21st century medicine and public health.
Muin J. Khoury et al (Apr, 2013)
- CDC feature: April 7 is World Health Day: High Blood Pressure
- World Health Organization: Silent killer, global public health crisis
- CDC information: Learn about high blood pressure
- MMWR article: Self-reported hypertension and use of antihypertensive medications among adults, United States, 2005-2009. Apr 5, 2013
- Risk factors for high blood pressure include family history. [PDF 94.84 KB] Collect and act on your family history to cut your own risk from high blood pressure
- From the HuGE Navigator: 1522 genes have been reported with hypertension, including 70 genomewide association studies.
April is Autism Awareness Month
- CDC feature: Autism Spectrum Disorders: One Family's Story
- CDC announcement: Autism Awareness Month and World Autism Day, April 2013 MMWR Mar 29, 2013 / 62(12);232
- CDC information: Autism spectrum disorders: test your knowledge
- CDC information: Genomics and health: Autism and family history
Newborn screening for autism: in search of candidate biomarkers
Mizejewski GJ, et al. Biomark Med 2013 Apr;7(2):247-60
- From the HuGE Navigator: 431 genes have been reported with Autism, including 10 genomewide association studies
- NCI webinar: Collaborating for impact: Public health genomics and cancer control Apr 16
- Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer.
Mingzhao Xing et al. JAMA, Apr 10
- Epidermal growth factor receptor targeting in head and neck cancer: Have we been just skimming the surface?
Aaron R. Hansen and Lillian L. Siu. J Clin Oncol, Apr 10
ERCC1/BRCA1 expression and gene polymorphisms as prognostic and predictive factors in advanced NSCLC treated with or without cisplatin
M Tiseo, P Bordi, B Bortesi, et al. BJC 2013 Apr 2
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: A study based on 7352 families from the German Hereditary Breast and Ovarian Cancer
Fischer C, et al. J Med Genet 2013 Apr
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer
E Castro, C Goh, D Olmos, et al. Journal of Clinical Oncology 2013 Apr 8
- First genetic factor in prostate cancer prognosis identified, EurekAlert, Apr 9
Meta-analyses of colorectal cancer risk factors
Johnson CM, et al. Cancer Causes Control 2013 Apr
Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net?
Domchek SM, Bradbury A, Garber JE, et al. J Clin Oncol. 2013 Apr 1;31(10):1267-70.
Lynch Syndrome video, from the Mayo Clinic, Apr 9
Update on genetic tests currently available for clinical use in common cancers, AHRQ techonology assessment for Public comments
Ethics, Policy & Law
Managing incidental and pertinent findings from WGS in the 100,000 Genome Project
A discussion paper from the PHG Foundation, 2013 Apr
- Regulatory agency struggles under the weight of genomic data
Yevgeniy Grigoryev. Nature Medicine 2013;385:19
- Evidence-based persuasion: An ethical imperative.
David Shaw, Bernice Elger. JAMA, Apr 8
Genomics in Practice
Academic family physicians' perception of genetic testing and integration into practice: A CERA study
Mainous Iii AG, et al. Fam Med 2013 Apr;45(4):257-62
Attitudes about regulation among direct-to-consumer genetic testing customers
Bollinger JM, et al. Genet Test Mol Biomarkers 2013 Apr
Impact of direct-to-consumer genomic testing at long term follow-up
Bloss CS, et al. J Med Genet 2013 Apr
Practices and policies of clinical exome sequencing providers: Analysis and implications
Jamal SM, et al. Am J Med Genet A 2013 Apr
- Why nurses are getting genomics training? C Rizk, New York Genome Center, Apr 3
What does it mean to be genomically literate?: National Human Genome Research Institute Meeting Report
Belen Hurle, Toby Citrin, Jean F. Jenkins, et al. Genetics in Medicine 2013 Feb 28
- NHGRI reports on first genomic literacy workshop, NHGRI, Apr 5
Clinical utility gene card for: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Napolitano C, et al. Eur J Hum Genet 2013 Apr
- Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.
Tanskanen T, et al. Scand J Gastroenterol. 2013 Apr 2
Guidelines and Recommendations
- ACMG statement on noninvasive prenatal screening for fetal aneuploidy.
Anthony R. Gregg et al. Genetics in Medicine Apr 4
- ACMG cautious of non-invasive prenatal diagnostic testing in policy statement, Genome Web, Apr 8 [by free subscription only]
Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology
Neal I. Lindeman , Philip T. Cagle , Mary Beth Beasley , et al. Archives of Pathology & Laboratory Medicine 2013 Apr 2
- Guide for lung cancer gene tests published, Medpage Today, Apr 5
Residual newborn screening samples for research: Parental information needs for decision-making
Rothwell E, et al. J Spec Pediatr Nurs 2013 Apr;18(2):115-22
Review of the cost effectiveness of pharmacogenetic-guided treatment of hypercholesterolaemia
Sorich MJ, et al. Pharmacoeconomics 2013 Apr
Public Health Sciences
Finding the missing heritability in pediatric obesity: the contribution of genome-wide complex trait analysis.
Llewellyn CH, et al Int J Obes (Lond). 2013 Mar 26
From “big epidemiology” to “colossal epidemiology”: When all eggs are in one basket
Hernán, Miguel A, Savitz, David A. Epidemiology, 2013 May
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity
Eleanor Wheeler, Ni Huang, Elena G Bochukova, et al. Nature Genetics 2013 Apr 7
- Genome wide study identifies genetic variants associated with childhood obesity, Medical Xpress, Apr 7
GWAS of cerebrospinal fluid tau levels identifies novel risk variants for Alzheimer's disease
Carlos Cruchaga, John S.K. Kauwe, Oscar Harari, et al. Neuron 2013 Apr 4
- Predicting risk for Alzheimer's disease with new genetic markers, Medical News Today, Apr 7
IL-6 polymorphisms: a useful genetic tool for inflammation research?
Woo P, Humphries SE. J Clin Invest. 2013 Apr 1;123(4):1413-4
Implementation of the CDC translational informatics platform - from genetic variants to the national Swedish Rheumatology Quality Register
Abugessaisa I, et al. J Transl Med 2013 Apr;11(1):85
Is size the next big thing in epidemiology?
Toh, Sengwee; Platt, Richard. Epidemiology, 2013 May
Making medical decisions in dependence of genetic background: estimation of the utility of DNA testing in clinical, pharmaco-epidemiological or genetic studies
Nguyen TT, et al. Genet Epidemiol 2013 Apr
Reviews and Commentaries on Science & Technology
- Things genes can’t do: Simplistic ideas of how genes ‘cause’ traits are no longer viable: life is an orderly collection of uncertainties. K Weiss and A Buchanan. Aeon Magazine
- A complete DNA sequencer on a USB stick. By John Hewitt on Mar 29, 2013 ExtremeTech
- The gut microbiome and malnutrition Mustafa Mahfuz. Sci Trans Med 3 April 2013: 179ec55
- This I believe in genetics: discovery can be a nuisance, replication is science, implementation matters.
John P. A. Ioannidis. Frontiers in Genetics Apr 2013
- Quick guide to GWAS.
Flint J. Cell, Apr 8, 2013
- A gene of rare effect: a mutation that gives people rock-bottom cholesterol levels has led geneticists to what could be the next blockbuster heart drug
- Nature Biotechnology April 5, 2013 Issue focus on translating the microbiome
- Laying better plans for mice. Genetically defined germ-free animal models colonized with defined microbiota are crucial for progress in microbiome research. Editorial Nature Biotechnology, Apr 5
- Country-specific antibiotic use practices impact the human gut resistome.
Kristoffer Forslund et al. Genome Research, 2013 Apr 3
The role of social networking sites in medical genetics research
Reaves AC & Bianchi DW Am J Med Genet A 2013 Mar
What would free sequencing mean? By Art Wuster, Sequonomics blog. Apr 9
Tools and Databases
A mechanism for controlled access to GWAS data: Experience of the GAIN Data Access Committee
Ramos EM, et al. Am J Hum Genet 2013 Apr;92(4):479-88
A new look for the UCSC Cancer Genomics Browser, Genomics Resource News, Apr 10
CDC authors are indicated in bold
Molecular evolution of viruses of the family Filoviridae based on 97 whole-genome sequences
Carroll SA, Towner JS, Sealy TK, McMullan LK, Khristova ML, Burt FJ, Swanepoel R, Rollin PE, Nichol ST. J Virol. 2013 Mar;87(5):2608-16.
Historical shifts in Brazilian P. falciparum population structure and drug resistance alleles
Griffing SM, Viana GM, Mixson-Hayden T, Sridaran S, Alam MT, de Oliveira AM, Barnwell JW, Escalante AA, Povoa MM, Udhayakumar V. PLoS One. 2013 ;8(3):e58984.
Recent advances in research of HIV infection: implications of viral and host genetics on treatment and prevention
Haaland RE, Johnson JA, Tang J. Public Health Genomics. 2013 ;16(1-2):31-6.
Malaria diagnostics and surveillance in the post-genomic era
Lucchi NW, Oberstaller J, Kissinger JC, Udhayakumar V. Public Health Genomics. 2013 ;16(1-2):37-43.
Poor immune responses of newborn rhesus macaques to measles virus DNA vaccines expressing the hemagglutinin and fusion glycoproteins
Polack FP, Lydy SL, Lee SH, Rota PA, Bellini WJ, Adams RJ, Robinson HL, Griffin DE. Clin Vaccine Immunol. 2013 Feb;20(2):205-10.
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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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