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Genomics & Health Impact Update

Volume 31   Number 9   August 29 - September 5, 2013 About the Update


Features of the Week

Genomic Medicine: Healthcare-Public Health Collaboration Across the Lifespan

young hand grasping old hand

New CDC podcast: Integrating genomics into pediatric primary care- a public health perspective.

CDC fact sheet: Implementing evidence-based genomic tests and family health history [PDF 1.04 MB]

Find state-based genomics implementation activities via the CDC clickable state map

CDC video: Cascade genetic screening and public health practice: an idea whose time has come

CDC blog post: Implementing evidence-based genomics recommendations at the intersection of public health and healthcare

CDC information: Public health and health care integration resources


Lynch Syndrome: Implementation to Save Lives

x rayed body with the colon shown and a helix behind the image

What is Lynch syndrome? NIH Genetics Home reference

CDC information: Genetic testing for hereditary colorectal cancer

Find state-based activities in Lynch syndrome implementation via the CDC clickable state map

Uptake of genetic testing by relatives of Lynch syndrome probands: A systematic review.
Sharaf RN, et al.  Clin Gastroenterol Hepatol. 2013 

UK patients are inadequately assessed for Lynch Syndrome

Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing Lynch syndrome in a large academic medical center.
Heald B, et al. J Clin Oncol 2013 Apr 1;31(10):1336-40

Lynch Syndrome Screening Network: Making universal screening for Lynch syndrome a reality


Familial Hypercholesterolemia: From Awareness to Action

a heart

International Familial Hypercholesterolemia Summit: From awareness to action, September 19, Annapolis, Maryland

Quality standard of care for familial hypercholesterolaemia in the UK, [PDF 125.48 KB] National Institute for Clinical Excellence, August, 2013

What is familial hypercholesterolemia? It is a common genetic condition associated with premature heart disease and stroke, FH Foundation information

CDC podcast: Cascade screening in familial hypercholesterolemia

Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands
Kindt I, et al. Cholesterol 2013;2013:531658

Recent advances in the treatment of homozygous familial hypercholesterolaemia.
Maraus A, et al. Current Opinion Lipidology 2013


Alcohol Health Effects: Role of Genomics

glass being poured with a DNA string

CDC information: The high cost of excessive drinking to states

CDC information: Alcohol and pregnancy: Why take the risk?

Did you know? 1215 genes have been reported in relation to alcohol adverse health effects, including 65 genomewide association studies. To find out more, visit the HuGE Navigator

The genetic basis of alcoholism: multiple phenotypes, many genes, complex networks.
Morozova T, et al. Genome Biology (2012) 13:239  

Find out about genetic conditions and tests related to alcohol use in the NIH Genetic Testing Registry


Lung Cancer & Genomics: What do we Know?

a body with  a lung

The Lancet features a series of papers on lung cancer. Topics include immunotherapy, screening for earlier diagnosis, patient management, and tumour biomarkers and genetics, August 2013

Genetics and biomarkers in personalisation of lung cancer treatment.
Rosell R, et al. Lancet, 2013 Aug 24

EGFR mutation tumor analysis has been recommended in personalization of treatment of non-small cell lung cancer by several evidence-based groups. Check out CDC tier 1 genomic applications table for more details

CDC paper: Utilization of epidermal growth factor receptor (EGFR) testing in the United States: Still far from optimal  
Genetics in Medicine (2013)

CDC Lung cancer information

National Cancer Institute: Lung Cancer: Prevention, Genetics, Causes

Did you know? More than 1000 genes have been reported in relation to lung cancer risk and outcomes, including 53 genomewide association studies. To find out more, visit the HuGE Navigator


Lyme Disease Genetics: What do we Know?

a tick being held by a pair of tweezers

CDC information on Lyme disease- transmission, symptoms, diagnosis, treatment, prevention & statistics

The burgeoning molecular genetics of the Lyme disease spirochaete
Patricia A. Rosa et al. Nat Rev Microbiol 2012

Is there genetic predisposition to Lyme disease or its complications? The HuGE Navigator includes a total of only 8 studies on human genes and no genomewide association studies


Genomic Information in the Prevention of Coronary Heart Disease

person getting blood pressure measured

Genomic medicine for improved prediction and primordial prevention of cardiovascular disease
Thanassoulis G, et al. Arterioscler Thromb Vasc Biol 2013 Sep;33(9):2049-50

Risk scores of common genetic variants for lipid levels influence atherosclerosis and incident coronary heart disease.
Isaacs A, et al. Arterioscler Thromb Vasc Biol. 2013 Sep;33(9):2233-9.

Genetic risk prediction and a 2-stage risk screening strategy for coronary heart disease.
Tikkanen E, et al. Arterioscler Thromb Vasc Biol. 2013 Sep;33(9):2261-6.

Multilocus genetic risk scores for coronary heart disease prediction.
Ganna A, et al. Arterioscler Thromb Vasc Biol. 2013 Sep;33(9):2267-2272

EGAPP recommendation: Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies (2010)

Genetics and cardiovascular disease: A policy statement from the American Heart Association.


Muscular Dystrophy, Genetics & Public Health

person in a wheelchair working on a laptop

CDC information: What should you know about Muscular Dystrophy?

CDC Muscular Dystrophy Surveillance Tracking and Research Network

American Academy of Pediatrics 2013 guidelines help doctors identify muscular dystrophy and other disorders.

Check out information on Muscular Dystrophy and genetic testing from the NIH Genetic Testing Registry

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Select Events

conference room

American College of Epidemiology: Innovation in Epidemiology: Reframing Approaches to Research Questions, September 21-24 ~ Louisville, KY

The 5th Annual Personalized Medicine Conference, October 21-22 ~ Boston, MA

American Society of Human Genetics, October 22-26 ~ Boston, MA

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Funding Opportunities

piggy bank on top of a few books

Patient-centered Outcomes Research Institute funding priorities

NIH Transformative Research Awards (R01)

Rare Diseases Clinical Research Consortia (RDCRC) for Rare Diseases Clinical Research Network (U54)



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Reports and Publications

Ethics, Policy and Law

stacked books with a gavel infront of them

Groups experiment with digital tools for patient consent.
Bridget M. Kuehn, MSJ JAMA. 2013;310(7):678-680

Patenting the PKU test — federally funded research and intellectual property
Paul D, et al. N Engl J Med 2013; 369:792-794 2013 Aug 29

Genomic Tests

a hand holding blood samples

Clinical utility gene card for: Choroideremia
Moosajee M, et al. Eur J Hum Genet 2013 Aug

Newborn Screening

Prenatal Testing

a pregnant woman

Efficacy of the genetic sonogram in a stepwise sequential protocol for Down syndrome screening
Shamshirsaz AA, et al. J Ultrasound Med 2013 Sep;32(9):1607-13

Public Health Sciences

a globe surrounded by computer monitors with images of people with are connected to each other

Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with Type 2 diabetes
Qi L, et al. JAMA. 2013;310(8):821-828

Genetic variant associated with coronary heart disease in Type 2 diabetes, Science Daily, Aug 27

Contribution of genome-wide association studies to scientific research: a pragmatic approach to evaluate their impact
Ricigliano VA, et al. PLoS One 2013;8(8):e71198

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Sosnay P, et al. Nature Genetics 2013 Aug 25

105 additional genetic errors that cause cystic fibrosis pinpointed, Medical Xpress, Aug 25

Familial cardiological and targeted genetic evaluation: Low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes
Kumar S, et al. Heart Rhythm 2013 Aug

Gene × physical activity interactions in obesity: Combined analysis of 111,421 individuals of European ancestry.
Shafqat Ahmad et al. PLoS Genet 9(7): e1003607

Genic intolerance to functional variation and the interpretation of personal genomes
Slavé Petrovski et al. PLoS Genet 9(8): e1003709

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Patrick R Sosnay et al. Nature Genetics 2013 Aug 25

Sofosbuvir and ribavirin for hepatitis C genotype 1 in patients with unfavorable treatment characteristics: A randomized clinical trial
Osinusi A, et al. JAMA. 2013;310(8):804-811.

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CDC-Authored Genomics Publications


CDC authors are indicated in bold

Unusual enterocytozoon bieneusi genotypes and cryptosporidium hominis subtypes in HIV-infected patients on highly active antiretroviral therapy
Akinbo FO, Okaka CE, Omoregie R, Adamu H, Xiao L. Am J Trop Med Hyg. 2013 Jul;89(1):157-61.

Evaluation of a dried blood and plasma collection device, sample tanker, for HIV type 1 drug resistance genotyping in patients receiving antiretroviral therapy
Diallo K, Lehotzky E, Zhang J, Zhou Z, de Rivera IL, Murillo WE, Nkengasong J, Sabatier J, Zhang G, Yang C. AIDS Res Hum Retroviruses. 2013 Aug 14.

Phenotypic, genomic, and transcriptional characterization of Streptococcus pneumoniae interacting with human pharyngeal cells
Kimaro Mlacha SZ, Romero-Steiner S, Hotopp JC, Kumar N, Ishmael N, Riley DR, Farooq U, Creasy TH, Tallon LJ, Liu X, Goldsmith CS, Sampson J, Carlone GM, Hollingshead SK, Scott JA, Tettelin H. BMC Genomics. 2013 ;14:383.

Borrelia burgdorferi bba66 gene inactivation results in attenuated mouse infection by tick transmission
Patton TG, Brandt KS, Nolder C, Clifton DR, Carroll JA, Gilmore RD. Infect Immun. 2013 Jul;81(7):2488-98.

View previous CDC-authored publications

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About the 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.


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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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