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Genomics & Health Impact Update

Volume 31   Number 8   August 22 - August 29, 2013 About the Update


Features of the Week

EGAPP Initiative: Value of an Honest Broker in Genomic Medicine

EGAPP logo

The EGAPP Initiative: Lessons learned
EGAPP Working Group, Genetics in Medicine, Aug 8
The EGAPP Working Group was established by CDC in 2005 to support the development of a systematic process for assessing the available evidence regarding the validity and utility of rapidly emerging genetic tests for clinical practice.

EGAPP methods update 2013
Veenstra et al., Genetics in Medicine (2012)

EGAPP approach to binning whole genome sequence information: a novel approach and pilot results. [PDF 656.44 KB]
Goddard K et al., Genetics in Medicine 2013

Guidelines for guideline developers: a systematic review of grading systems for medical tests. Implementation Science 2013. EGAPP ranked highest on methodologic characteristics

Breaking a vicious cycle.
Hayes DF, et al. Sci Transl Med. 2013 Jul 31;5(196):196cm6.
"We recommend that FDA adopts the EGAPP definitions [endorsed by the National Cancer Institute (NCI) and IOM] of analytical and clinical validity and clinical utility…"


Cyclospora Outbreak, Public Health & Advanced Molecular Detection


CDC update: Investigation of an outbreak of cyclosporiasis in the United States
DPDx: Laboratory diagnosis of cyclospora

Watch CDC Director interview with CBS news about cyclospora outbreak and need for advanced molecular detection in public health response

CDC Advanced Molecular Detection Initiative: Ramping up genomics and bioinformatics capacity in public health


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

CDC provides estimate of Americans diagnosed with Lyme disease each year, CDC Newsroom, Aug 19

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


Lynch Syndrome: Public Health Action

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: Public Health Action

a heart

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

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease
Nordestgaard B, et al. European Heart Journal 2013 Aug 15

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

New UK standards for familial hypercholesterolaemia, PHG Foundation, Aug 21

International Familial Hypercholesterolemia Summit, September 19, Annapolis, Maryland


Cancer Genomics & Precision Medicine: Public Health Impact

cancer cels

Genomics and the continuum of cancer care
Ultan McDermott, et al. New Engl J Med 2011

Preparing for precision medicine
Reza Mirnezami et al. New Engl J Med 2012

The beginning of the end of the beginning in cancer genomics. [PDF 125.48 KB]
David P. Steensma. New Engl J Med 2013

The Cancer Genome Atlas, NCI

Impact of cancer genomics on precision medicine for the treatment of cancer, NCI

The link between TCGA and personalized cancer therapies,  Video

Signatures of mutational processes in human cancer.
Alexandrov LB, et al. Nature. 2013 Aug 14.

Genetic signatures reveal common cancer processes,  by Dr Philippa Brice, PHG Foundation, Aug 15

An unlikely cure signals new hope for cancer medicine: How “exceptional responders” are revolutionizing treatment for the deadly disease. By Kat McGowan, Nautilus Blog

‘The Philadelphia chromosome: A mutant gene and the quest to cure cancer at the genetic level’ by Jessica Wapner, Peter Klass, Washington Post, Aug 16

Whole-exome sequencing of NCI-60 cell line panel provides genomic resource for cancer biology and pharmacology, The ASCO Post, Aug 15


High Blood Pressure: a Million Hearts Challenge & Family History

person getting blood pressure measured

Call for nominations: Million Hearts® blood pressure control champions!
High blood pressure is out of control for too many Americans. The latest data show that nearly 1 in 3 American adults has high blood pressure, and more than half don't have it under control

CDC information: Learn about high blood pressure and its risk factors including genetics

Family history of high blood pressure is a risk factor for high blood pressure- Collect your family history and act on it [PDF 94.84 KB]

CDC information: While you cannot control your family history of high blood pressure, you can decrease your risk by making healthy lifestyle choice including salt reduction

Improved blood pressure control associated with a large-scale hypertension program
Jaffe M, et al. . 201 JAMA 3;310(7):699-705

Did you know? 1558 genes have been reported with high blood pressure and outcomes, including 82 genomewide association studies. To find out more, visit the HuGE Navigator


Genetics and Behavioral & Social Sciences: Opportunities for Integration

quadruplets in a meeting with a DNA in the background

A special issue of the American Journal of Public Health with a focus on intersection between genetics and behavioral and social research

Advancing scientific inquiry by blurring research boundaries
Kaplan RM, et al. AJPH 2013 Aug 8

Genes can point to environments that matter to advance public health
Bearman PS AJPH 2013 Aug 8

Integration of behavioral, social science and genetics research: exploring public health significance
Michael L. Spittel, et al. AJPH Aug 8

Rethinking our public health genetics research paradigm
Abdulrahman M et al.  AJPH  Aug 8  

Genetics in population health science: Strategies and opportunities
Daniel W. Belsky, et al. AJPH Aug 8

Social regulation of human gene expression: Mechanisms and implications for public health
Steven W. Cole AJPH Aug 8

Conceptual shifts needed to understand the dynamic interactions of genes, environment, epigenetics, social processes, and behavioral choices
Fatimah L. C. Jackson, et al. AJPH Aug 8

Deep integration: Letting the epigenome out of the bottle without losing sight of the structural origins of population health
Arline T. Geronimus AJPH Aug 8

Genomics and the nature of behavioral and social risk
Matt McGue. AJPH Aug 8

The dialogue between social environments and the genome
Moshe Szyf AJPH Aug 8

NIH-CDC paper: Health applications of genomics: Priorities for communication, behavioral & social sciences
Mc Bride C, et al. Am J Prev Med. 2010 May;38(5):556-65.


Influenza: Role of Host & Pathogen Genomics

image of person with lungs shown and flu virus in the air

CDC seasonal influenza information

Integrative genomic analysis of the human immune response to influenza vaccination [PDF 4.03 MB]
Luis M Franco et al. elife July 2013

Could changes in gene expression be used to predict which individuals will respond to the influenza vaccine? Ferreira P et al. elife, July 2013

Full genome of influenza A (H7N9) virus derived by direct sequencing without culture
Xianwen Ren et al. Emerg Infectious Dis Nov 2013

The role of host genetics in susceptibility to influenza: A systematic review
Peter Horby et al. PLoS One, 2012

Role of polymorphisms in host immune genes in determining the severity of respiratory illness caused by pandemic H1N1 influenza.
Kenyan W, et al.  Public Health Genomics, Mar 2013

CDC paper: A pilot study of host genetic variants associated with influenza-associated deaths among children and young adults.
Ferdinands J et al. Emerging Inf Dis 2011

Probable person to person transmission of novel avian influenza A (H7N9) virus in Eastern China, 2013: epidemiological investigation
Qi X, et al.  BMJ2013;347:f4752

Human to human transmission of H7N9
Rudge J et al. BMJ 2013;347:f4730

Genetic code shows bird flu in China spread between people, NPR Health, Aug 6  


Genome-wide Association Studies: Public Health Impact

two glasses half full with two chromosomes

CDC blog post: Public health impact of genomewide association studies: Glass half full or half empty?

Bringing genome-wide association findings into clinical use.
Teri A. Manolio. Nat Rev Genetics, July 2013

GWAS Series: In the past 2 years genome-wide association studies in humans have revealed dozens of disease-associated loci, Nature Rev Genetics

Check out the GWAS Catalog at the National Human Genome Research Institute

GWAS hits occur in genes that also cause single gene disorders, Principal Components Blog, Aug 18

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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

Public Health Sciences

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

Assessing the clinical utility of a genetic risk score constructed using 49 susceptibility alleles for type 2 diabetes in a Japanese population
Imamura M, et al. J Clin Endocrinol Metab 2013 Aug

Attitude of medical school students in China towards genetic testing and counseling issues in FXS
Li J, et al. J Genet Couns 2013 Aug

Biomarker interactions are better predictors of spontaneous preterm birth.
Bhat G, et al. Reprod Sci. 2013 Jul 24

The effects of 30 days resveratrol supplementation on adipose tissue morphology and gene expression patterns in obese men
Konings E, et al. International Journal of Obesity 2013 Aug 20

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

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

Incremental value of rare genetic variants for the prediction of multifactorial diseases
Mihaescu R, et al.Genome Medicine 2013, 5:76

Influence of a dopamine pathway additive genetic efficacy score on smoking cessation: results from two randomized clinical trials of bupropion
David SP, et al. Addiction 2013 Aug

Patient compliance based on genetic medicine: a literature review
Schneider Kai, et al. Journal of Community Genetics 2013 Aug

Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis
Feenstra B, et al. JAMA 2013;310(7):714-721.

Sustained effects of online genetics education: a randomized controlled trial on oncogenetics
Houwink EJ, et al. Eur J Hum Genet 2013 Aug

Reviews & Commentaries on Science & Technology

stacked papers

Conference scene: Accelerating public awareness in the age of personal genetics
Gelbart M, et al. Personalized Med 10;6:535-538 2013 Aug

Omics technologies and the study of human ageing.
Ana M. Valdes et al.  Nature Reviews Genetics Aug 2013

New genes as drivers of phenotypic evolution.
Sidi Chen et al. Nature Rev Genetics Aug 16

Public preferences about secondary uses of electronic health information
Grande D, et al. JAMA Intern Med. 2013 Aug 19

How DNA repair helps prevent cancer,  Science News, Aug. 16

Is big data an economic big dud? By James Glanz, New York Times, Aug 17

Direct-to-consumer pharmacogenetic testing, by Philippa Price, PHG Foundation, Aug 19

Adam's sin and next generation sequencing,  Mermaid Blog Aug 20

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CDC-Authored Genomics Publications


CDC authors are indicated in bold

Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?
Rogowski WH, Grosse SD, Schmidtke J, Marckmann G. Eur J Hum Genet. 2013 Aug 7.

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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