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Genomics & Health Impact Update

Volume 31   Number 5   August 1 - August 8, 2013

Spotlight: Genome-wide Association Studies: Public Health Impact

genome sequencing strips

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

Did you know? There are more than 9000 specific gene-disease associations reported in genomewide association studies. To find out more, visit the HuGE Navigator

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

Features of the Week

Genome Sequencing Return of Findings: We Need to Talk!

whole genome sequencing

CDC paper: Recommendations for returning genomic incidental findings?  We need to talk!
Wylie Burke et al. Genetics in Medicine 2013 Aug 1

CDC blog post:  On the importance of a policy framework to guide an evidence-based approach to incorporate genome sequencing technology into health care and public health

Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
Robert C. Green, et al. JAMA. 2013;310(4):365-366.

Mandatory extended searches in all genome sequencing: “incidental findings,” patient autonomy, and shared decision making
Lainie Friedman Ross, et al. JAMA. 2013;310(4):367-368.

Return of secondary genomic findings vs patient autonomy: Implications for medical care
Robert Klitzman, et al. JAMA. 2013;310(4):369-370.

Incidental swimming with millstones.
Stephen F. Kingsmore Sci Transl Med 17 July 2013


The Burden of Obesity: Genes and Environment

a scale

CDC is working to implement policy and environmental strategies to make healthy eating and active living accessible and affordable for everyone.

CDC information: What do genes have to do with obesity? behavior, environment, and genetic factors all have a role in causing people to be overweight and obese

Did you know? 1572 genes have been reported in relation to obesity risk and outcomes, including 138 genomewide association studies. To find out more, visit the HuGE Navigator

Find out about genetic conditions associated with obesity, gene reviews and available genetic tests using the NIH Genetic Testing Registry

Gene × physical activity interactions in obesity: Combined analysis of 111,421 individuals of European ancestry
Ahmad S, et al. PLoS Genetics

Rare gene mutations suggest one more path to obesity, by Rebecca Voelker, JAMA News, Jul 18

Overweight? Maybe you really can blame your genes, by Gina Kolata, New York Times, Jul 18

Stop blaming genetics for your weight,  M Hart, Huffington Post, Jul 19

Obesity gene boosts hunger hormone, by Rebecca Bazeley, PHG Foundation, Jul 23


Personal Genomic Tests, Science and Consumer Awareness

double helix

'Results may vary’ with at-home gene tests, Futurity, July 18

Variations in predicted risks in personal genome testing for common complex diseases, Genetics in Medicine, June 2013

CDC paper: Scientific foundation for using personal genomic tests to improve health and prevent disease, Genetics in Medicine

CDC blog post: Think after you spit: personal genomic tests and the teachable moment (2012)

Consumer genetics conference, Boston, September 23-25, 2013

Direct-to-consumer genetic testing: To test or not to test, that is the question
Dandara C, et al. S Afr Med J 2013 Aug;103(8):510-2


Aging and Health: Role of Genomics

elderly couple

CDC feature: Aging and health in America, 2013

Genetics and genomics of human aging.
Heather E. Wheeler and Stuart K. Kim Philos Trans R Soc Lond B Biol Sci. 2011 January 12; 366(1561): 43–50.

A genome-wide association study of aging.
Neurobiol Aging. 2011 Nov;32(11):2109.e15-28.

CDC information:Why is family history important for your health at any age?

Information on genomics in selected diseases related to aging:

Alzheimer's disease genetics fact sheet, from the National Institute on Aging

Age-related macular degeneration genetics, from the NIH Genetics Home Reference

Heart disease, genomics and family history, CDC information

Breast and ovarian cancer, genomics and family health history,  CDC information

Colorectal cancer, genomics and family history, CDC information

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Diseases of the Week

Influenza: Role of Host 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

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


Hepatitis: Role of Host Genomics

A few people holding up a sign: World Hepatitis Day July 28th

CDC feature: World Hepatitis Day was July 28

CDC paper: Viral hepatitis C gets personal - The value of human genomics to public health
Zhang L,et al.. Public Health Genomics 16(4) 2013

Genome-wide association study identifies new variants associated with the risk of chronic hepatitis B.
Kim YJ, et al. Hum Mol Genet 2013 Jun 26

Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.
Jiang DK,  et al. Nat Genet 2013 Jan;45(1):72-5.

Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.
Duggal P,  et al. Ann Intern Med. 2013 Feb 19;158(4):235-45.

Did you know: 1282 genes have been reported with hepatitis risk and outcomes, including 44 genomewide association studies. To find out more, visit the HuGE Navigator

Find out which genetic conditions and what genetic tests are available for hepatitis. Visit the NIH Genetic Testing Registry


Ovarian Cancer

three women

CDC information: Symptoms of ovarian cancer

NCI information: Some ovarian cancers are caused by inherited gene mutations.

CDC information: The importance of family health history in breast and ovarian cancer

CDC paper: Issues of ovarian cancer survivors in the USA: a literature review
Trivers KF, et al. Support Care Cancer. 2013 Jul 12.

Did you know: 758 genes have been reported in relation to risk and outcomes of ovarian cancer, including 14 genomewide association studies.  BRCA1 and BRCA2 are the most common studied genes. To find out more, visit the HuGE Navigator

Did you know: 15 genetic conditions are associated with ovarian cancer and 11 genetic tests are available. To find out more, visit the NIH Genetic Testing Registry

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Select Events

conference room

Beyond the bloodspot: How will emerging technologies shape detection & clinical care? Washington DC, August 20, 2013




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Funding Opportunities

piggy bank on top of a few books

NIH Transformative Research Awards (R01)

NIH Centers of Excellence for Big Data Computing in the Biomedical Sciences (U54)



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Reports and Publications

Genomic Tests

a hand holding blood samples

BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome.
Jin M, Hampel H, et al. Am J Clin Pathol. 2013 Aug;140(2):177-83.

Clinical utility gene card for: Alagille Syndrome (ALGS)
Leonard LD, et al. Eur J Hum Genet 2013 Jul

Guidelines and Recommendations

Prenatal Testing

a pregnant woman

Non-invasive prenatal testing for Down's syndrome: Pregnant women's views and likely uptake
Lewis C, et al. Public Health Genomics 2013 Jul

Public viewpoints on new non-invasive prenatal genetic tests
Farrimond HR & Kelly SE Public Underst Sci 2013 Aug;22(6):730-44

Public Health Sciences

Reviews and Commentaries on Science & Technology

Tools and Databases

numbers on a grid

The BioResource for rare diseases, National Institute for Health Research

Progress in UK-wide rare disease genomics initiative, by Dr Leila Luheshi, PHG Foundation, Jul 29

UKGTN - promoting gene testing, NHS, UK Genetic Network

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CDC-Authored Genomics Publications


CDC authors are indicated in bold

A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.
Chang CQ, Yesupriya A, Rowell JL, Pimentel CB, Clyne M, Gwinn M, Khoury MJ, Wulf A, Schully SD. Eur J Hum Genet. 2013 Jul 24.

Viral Hepatitis C gets personal - The value of human genomics to public health
Zhang L, Gwinn M, Hu D. Public Health Genomics 16(4) 2013

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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