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, September 6, 2012 Volume 29 Number 10
New CDC Blog Post: Now Watch This: Genomic Epidemiology
- Köser CU, Ellington MJ, Cartwright EJP, Gillespie SH, Brown NM, Farrington M, et al. (2012) Routine Use of Microbial Whole Genome Sequencing in Diagnostic and Public Health Microbiology. PLoS Pathogens 8(8): e1002824.
- Loman NJ, Constantinidou C, Chan JZ, Halachev M, Sergeant M, Penn CW, Robinson ER, Pallen MJ. High-throughput bacterial genome sequencing: an embarrassment of choice, a world of opportunity. Nat Rev Microbiol. 2012 Aug 6.
- Genomic medicine steps closer to the clinic
Lancet. 2012 Sep 1;380(9844):780.
CDC Feature: September is Sickle Cell Awareness and Newborn Screening Awareness Month
- Newborn screening may save your baby’s life/help your doctor find issues early. What are some new tests?
- It’s Newborn Screening Awareness Month. Learn more about screening
- Why screen babies for sickle cell disease? Here’s one family’s story about how it made a difference for them.
- Celebrate your baby in September, National Newborn Screening Awareness Month. Learn everything you need to know at Baby's First Test
- There is “absolutely no doubt, Newborn Screening saves lives.“ Inspiring read, "First breaths impacting a lifetime"
September is National Cholesterol Education Month
- Take steps to control your cholesterol.
- What do you know about familial hypercholesterolemia?
- What do you know about family history and heart disease?
- September is Cholesterol Education Month! Do you know the four types of cholesterol?
- September is National Cholesterol Education Month. Take steps to control your cholesterol.
High Blood Pressure, Genetics, and Family History
- About 1 in 3 U.S. adults—as estimated 68 million—have high blood pressure, which increases the risk for heart disease and stroke
- 36 million adults with high blood pressure don’t have it under control.
- Family history of high blood pressure is a risk factor for high blood pressure-know your family history [PDF 94.84 KB]
- Genetic Factors Behind High Blood Pressure
- Since 2001, 3529 publications-including 61 genomewide association studies- have reported on 1467 genes in relation to hypertension
To find out more click here
Encyclopedia of DNA Elements: ENCODE
- Genomics: ENCODE explained
Ecker J, Bickmore W, Barrosso I, et al. Nature (2012 Sep 6) 489, 52-55
- Human Genome Encyclopedia, ENCODE, reveals complexities of DNA, genes, The Huffington Post, September 5
- Comprehensive analysis of human genome published, PHG foundation, September 6
How to interpret health implications of human genome variation?
- Interpreting health implications of a whole genome sequence on thousands of people: where do you GET the evidence you need? GET: The Genome-Environment-Trait Evidence (GET-Evidence) system
- WikiGWA: an open platform for collecting and using genome-wide association data
- Need the latest information on gene-disease associations: check out the HuGENavigator
- Beyond genotype to phenotype: why the phenotype of an individual cannot always be predicted from their genome sequence and the environment that they experience. Alejandro Burga, and Ben Lehner FEBS journal (September 2012)
- Familial breast cancer registry program in patients referred to the cancer institute of Iran
Sabokbar T, et al. Asian Pac J Cancer Prev 2012;13(6):2675-9
- Family History of Prostate Cancer in a Black Population
Nemesure B, et al. J Immigr Minor Health 2012 Aug
- Genomic Grade Index predicts postoperative clinical outcome of GIST
Bertucci F, et al. Br J Cancer 2012 Aug
- Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome Yurgelun MB, et al. Gynecol Oncol 2012 Aug
- Prognostic significance of promoter DNA methylation in patients with childhood neuroblastoma
Lau DT, et al. Clin Cancer Res 2012 Aug
- The epigenetic promise for prostate cancer diagnosis
Van Neste L, et al. Prostate 2012 Aug;72(11):1248-61
- Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry
Dite GS, et al. Breast Cancer Res 2012 Aug;14(4):R122
- Use of personalized molecular biomarkers in the clinical care of adults with glioblastomas
Holdhoff M, et al. J Neurooncol 2012 Aug
- Families With Parkinson Disease and Cancer.
Rocca WA. Arch Neurol. 2012 Sep 3:1-2.
- Scientists find links among Parkinson’s, cancer and family history, HealthDay News, September 4
- BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Spurdle AB, Whiley PJ, Thompson B, et al. J Med Genet. 2012 Aug;49(8):525-532.
- Value of platelet pharmacogenetics in common clinical practice of patients with ST-segment elevation myocardial infarction
Verschuren JJ, et al. Int J Cardiol 2012 Aug
- NIH awards $100 million for Autism Centers of Excellence Program, NIH News, September 4
Genomics in Practice
- Personalized Genetic Risk Counseling to Motivate Diabetes Prevention: A randomized trial
Grant RW, et al. Diabetes Care 2012 Aug
- Current State and Future Prospects of Direct-to-Consumer Pharmacogenetics
Chua EW & Kennedy MA Front Pharmacol 2012;3:152
- The 1200 Patients Project: Creating a New Medical Model System for Clinical Implementation of Pharmacogenomics
O'Donnell PH, et al. Clin Pharmacol Ther 2012 Aug
Guidelines and Recommendations
- Recommendations for Genetic Testing of Inherited Eye Diseases: Report of the American Academy of Ophthalmology Task Force on Genetic Testing
Stone EM, et al. Ophthalmology 2012 Aug
- Neonatal screening for congenital adrenal hyperplasia
Barra CB, et al. Rev Assoc Med Bras 2012 Aug;58(4):459-64
Policy and Legislation
- Minors or suspects? A discussion of the legal and ethical issues surrounding the indefinite storage of DNA collected from children aged 10-18 years on the National DNA Database in England and Wales
Mansel C & Davies S Med Sci Law 2012 Aug
- Women's and health professionals' preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests
Hill M, et al. Genet Med 2012 Aug
- Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population [PDF 534.93 KB]
Nicolaides K, Syngelaki A, Ashoor G, et al. Am J Obstet Gynecol 2012;207
Public Health Sciences
- Age of onset and effect size in genome-wide association studies
Agopian AJ, et al. Birth Defects Res A Clin Mol Teratol 2012 Aug
- Can Genetic Associations Change with Age? CFH and Age-Related Macular Degeneration
Adams MK, et al. Hum Mol Genet 2012 Aug
- Reduced Risk of Plasmodium vivax Malaria in Papua New Guinean Children with Southeast Asian Ovalocytosis in Two Cohorts and a Case-Control Study
Rosanas-Urgell A, Lin E, Manning L, et al. PLoS Medicine
- Newly discovered gene mutation offers malaria defense like sickle cell, LA Times, September 5
- Mapping cis- and trans-regulatory effects across multiple tissues in twins.
Grundberg E, Small KS, Hedman AK, et al. Nat Genet. 2012 Sep 2.
- Near and far, nature and nurture, Wellcome Trust Sanger Institute, September 2
- Genome-wide Association and Population Genetic Analysis of C-Reactive Protein in African American and Hispanic American Women.
Reiner AP, Beleza S, Franceschini N, et al. Am J Hum Genet. 2012 Aug 28.
- In African-American women, new genetic risk factor for inflammation identified, Medical News Today, September 1
CDC authors are indicated in bold
Association between adult height, genetic susceptibility and risk of glioma
Kitahara CM, Wang SS, Melin BS, Wang Z, Braganza M, Inskip PD, Albanes D, Andersson U, Beane Freeman LE, Buring JE, Carreon T, Feychting M, Gapstur SM, Gaziano JM, Giles GG, Hallmans G, Hankinson SE, Henriksson R, Hsing AW, Johansen C, Linet MS, McKean-Cowdin R, Michaud DS, Peters U, Purdue MP, Rothman N, Ruder AM, Sesso HD, Severi G, Shu XO, Stevens VL, Visvanathan K, Waters MA, White E, Wolk A, Zeleniuch-Jacquotte A, Zheng W, Hoover R, Fraumeni JF, Chatterjee N, Yeager M, Chanock SJ, Hartge P, Rajaraman P. Int J Epidemiol. 2012 Aug;41(4):1075-1085.
Decision analysis, economic evaluation, and newborn screening: challenges and opportunities
Prosser LA, Grosse SD, Kemper AR, Tarini BA, Perrin JM. Genet Med. 2012 August;14(8):703-712.
Sensitive and specific detection of Trypanosoma cruzi DNA in clinical specimens using a multi-target real-time PCR approach
Qvarnstrom Y, Schijman AG, Veron V, Aznar C, Steurer F, da Silva AJ. PLoS Negl Trop Dis. 2012 Jul;6(7):e1689.
Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes
Swan GE, Javitz HS, Jack LM, Wessel J, Michel M, Hinds DA, Stokowksi RP, McClure JB, Catz SL, Richards J, Zbikowski SM, Deprey M, McAfee T, Conti DV, Bergen AW. Pharmacogenomics J. 2012 Aug;12(4):349-58.
Simian genogroup I picobirnaviruses: prevalence, genetic diversity, and zoonotic potential
Wang Y, Banyai K, Tu X, Jiang B. J Clin Microbiol. 2012 Aug;50(8):2779-82.
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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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