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Genomics & Health Impact Update

Volume 31   Number 7   August 15 - August 22, 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

Upcoming  EGAPP Working Group meeting, August 19-20, Atlanta, Georgia


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


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.


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

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

International Familial Hypercholesterolemia Summit, September 19, Annapolis, Maryland


Blood Disorders: Healthy People 2020

blood and DNA

Healthy People 2020 objectives for blood disorders and blood safety include several genetic conditions

The impact of systems improvements: A progress review of healthcare-associated infections & blood disorders and blood safety, register for an online webinar for August 28

CDC information on blood disorders

Genomics and Healthy People 2020: what gets measured gets done, CDC blog post (2012)   


Stroke: Family History & Genetics


Do you know your risk factors for stroke, a Millionhearts video
CDC information: Stroke awareness, genetics and family history

CDC information: Learn about stroke

Stroke is a complication of sickle cell disease. To find out more, visit the CDC sickle cell disease complications and treatments page

Did you know? 925 genes have been reported with risk of stroke and related outcomes, including 55 genomewide association studies. To find out more, visit the HuGE Navigator


High Blood Pressure: Salt Intake & 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

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


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  


Diabetes, Family History, Genetics, & Prevention Programs

diabetes is highlighted with a pen

CDC National Registry of Recognized Diabetes Prevention Programs:  Can be used by health care providers to refer patients to a local program; and to also help people who want to make a lifestyle change to prevent type 2 diabetes.

CDC information: Prediabetes: Am I at risk?

CDC information: Does diabetes run in your family? Take steps towards better health!

Did you know? More than 3000 genes have been reported with risk of type 2 diabetes and its outcomes, including more than 120 genomewide association studies. To find out more, visit the HuGE Navigator

Check out genetic disorders and tests associated with diabetes at the NIH Genetic Testing Registry


Genome-wide Association Studies: Public Health Impact


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

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Select Events

conference room

Beyond the bloodspot: How will emerging technologies shape detection & clinical care? August 20 ~ Washington DC

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

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Reports and Publications


several people

Age at diagnosis may trump family history in driving BRCA testing in a population of breast cancer patients
Vig H, et al. Cancer Epidemiol Biomarkers Prev 2013 Aug

Cost-effectiveness of screening women with familial risk for breast cancer with magnetic resonance imaging
Saadatmand S, et al. J Natl Cancer Inst 2013 Aug

Diagnostic value of stool DNA testing for multiple markers of colorectal cancer and advanced adenoma: A meta-analysis
Yang H, et al. Can J Gastroenterol 2013 Aug;27(8):467-75

Quality of life after surgery in individuals with familial colorectal cancer: does extended surgery have an adverse impact?
Pollett WG, et al. ANZ J Surg. 2013 Aug 7.

Performance and cost efficiency of KRAS mutation testing for metastatic colorectal cancer in routine diagnosis: The MOKAECM study, a nationwide experience
Blons H, et al. PLoS One 2013;8(7):e68945

Personalizing the treatment of women with early breast cancer: highlights of the St Gallen International Expert Consensus on the primary therapy of early breast cancer 2013
Goldhirsch A, et al. Ann Oncol 2013 Aug

Psychosocial approaches to participation in BRCA1/2 genetic risk assessment among African American women: a systematic review
Sherman KA, et al. J Community Genet 2013 Aug

Risk of thyroid cancer in relatives of patients with medullary thyroid carcinoma by age at diagnosis
Fallah M, et al. Endocr Relat Cancer 2013 Aug

Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
Phillips KA, et al. J Clin Oncol. 2013 Aug 5.

Tamoxifen for prevention in high-risk breast cancer, Medical News Today, Aug 9

The emerging role of the molecular diagnostics laboratory in breast cancer personalized medicine
De Abreu F et al. Am J Pathol 2013 Aug 5

Validation of next generation sequencing technologies in comparison to current diagnostic gold standards for BRAF, EGFR and KRAS mutational analysis
McCourt CM, et al. PLoS One 2013;8(7):e69604

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CDC-Authored Genomics Publications


CDC authors are indicated in bold

Shared Mycobacterium avium genotypes observed among unlinked clinical and environmental isolates
Dirac MA, Weigel KM, Yakrus MA, Becker AL, Chen HL, Fridley G, Sikora A, Speake C, Hilborn ED, Pfaller S, Cangelosi GA. Appl Environ Microbiol. 2013 Jul 12.

Disparate distribution of hepatitis B virus genotypes in four sub-Saharan African countries
Forbi JC, Ben-Ayed Y, Xia GL, Vaughan G, Drobeniuc J, Switzer WM, Khudyakov YE. J Clin Virol. 2013 Jul 16.

Genotype GI.6 norovirus, United States, 2010-2012
Leshem E, Barclay L, Wikswo M, Vega E, Gregoricus N, Parashar UD, Vinje J, Hall AJ.Emerg Infect Dis. 2013 Aug;19(8):1317-20.

Family history of myocardial infarction is a risk factor for venous thromboembolism among whites but not among blacks
Mili FD, Hooper WC, Lally C, Austin H. Clin Appl Thromb Hemost. 2013 Jul;19(4):410-7.

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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