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Genomics & Health Impact Update

Volume 31   Number 10   September 5 -12 , 2013 About the Update


Features of the Week

Disease Registries, Genomics & Public Health

a hand pulling files

Implementation of validated genomic applications can benefit from public health surveillance & registries-CDC Blog post: Feeling the genomic pulse of the United States (2011)

The Randomized Registry Trial — The next disruptive technology in clinical research?
Lauer M, et al. New Engl J Med, Sept 1 

CDC information: How cancer registries work

CDC/ATSDR National Amyotrophic Lateral Sclerosis (ALS) registry and biorepository

CDC birth defects tracking systems

Reg4all: Finding ways to improve health with the registry for all conditions


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

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: Improving care through clinical and public health partnerships can save more lives from heart disease and stroke


Tuberculosis, Drug Resistance & Genomics

a bottle with the label TB Lung disease

CDC information on tuberculosis

Genomes reveal roots of TB drug resistance. Tuberculosis strains evolve by gradually acquiring subtle mutations.
Ed Yong Nature News, Sep 1

Genomic analysis identifies targets of convergent positive selection in drug-resistant Mycobacterium tuberculosis.
Maha R Farhat, et al.  Nat Genetics 2013 Sep 1

Genome sequencing of 161 Mycobacterium tuberculosis isolates from China identifies genes and intergenic regions associated with drug resistance.
Hongtai Zhang, et al. Nat Genetics, August 2013

Decoding drug-resistant TB- Researchers characterize drug-resistant tuberculosis by analyzing the genomes of more than 500 Mycobacterium tuberculosis isolates from around the world, by Tracy Vence, The Scientist, Sep 1

TB  has  human,  not animal, origins,  Julie Gould, BBC News, Sep 2

Did you know? 291 genes have been reported with risk of Tuberculosis and outcomes, including   9 genomewide association studies. To find out more, visit the HuGE Navigator


September is Sickle Cell Disease Awareness Month

Sickle Cell

Test your knowledge on sickle cell disease: CDC information

CDC Registry and Surveillance System for sickle cell disease and other hemoglobinopathies (RuSH)

Healthy People 2020 objectives on blood disorders and blood safety include objectives for sickle cell disease



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

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

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


Familial Hypercholesterolemia: From Awareness to Action

a heart

CDC information: September is National Cholesterol Education Month

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

CDC information on preventable deaths from heart disease & stroke- Using electronic health records to identify and support patients, refer patients to community resources and track progress on cholesterol management

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society
Eur Heart J, Aug 15


Marfan Syndrome: Genetics, Management & Public Health Impact

Lens dislocation in Marfan's syndrome

Tall order: Losartan looks promising in Marfan syndrome, Heart Wire, Sep 2

What is Marfan syndrome? A genetic disorder affecting many parts of the connective tissue in the body- from the NIH Genetics Home Reference

Find out more about Marfan Syndrome, diagnosis, treatment and genetic testing information from the NIH Genetic Testing Registry

Find out the phenotypes associated with the FBN1 Marfan Syndrome gene- check out the HuGE Navigator

CDC Information: Aortic aneurysm fact sheet- risk factors include family history and genetic diseases such as Marfan Syndrome


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.


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Select Events

conference room

The Genomics of Common Diseases 2013
September 7-10, 2013- Keble College, Oxford, UK

New England Healthcare Institute (NEHI) Innovation Conference: Patient Engagement 360
October 3rd, 2013 - Boston, MA

Precision Medicine: Personal Genomes & Pharmacogenomics
November 13-16, 2013 - Cold Spring Harbor, NY


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Funding Opportunities

piggy bank on top of a few books

REQUEST FOR PROPOSALS: Million Hearts State Learning Collaborative Focus on Hypertension Identification, Control and Improvement

NIH program explores the use of genomic sequencing in newborn healthcare, NIH, Sep 4

NIDA to fund genetic, molecular studies of chronic drug abuse, Genome Web, Aug 29 [by free subscription only]

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Reports and Publications

Ethics, Policy and Law

Public Health Sciences

Reviews & Commentaries on Science & Technology

stacked papers

Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Boycott K, et al.  Nat Reviews Genetics 2013 Sep 3

The costly paradox of health-care technology, MIT Technology Review, Sep 5

Collecting data is easy; making sense of it is not, The Mermaids Tale, Sep 4

For $9,000, your personal genome sequenced,  Carrie Tian, CommonHealth, Aug 27

The ABC’s of Your DNA- ‘Genome: Unlocking Life’s code,’ at the Smithsonian,  by E Rosthstein, New York Times, Aug 29 

Genome biology: Not drowning but waving  
Adrian Bird, Cell, 154;5:951-952 2013 Aug 29

Genetic research: A matter of trust, Milwaukee Courier, Aug 30

The promise of poop
Jop de Vrieze Science, 30 August 2013:  Vol. 341 no. 6149 pp. 954-957

Cancer knows no borders- Unafraid to tackle cancer disparities across races, Olufunmilayo “Funmi” Olopade has demonstrated that genomics research can make a big impact on public health, by Megan Scudellari, The Scientist, Aug 1

Data analysis: Today’s next-gen sequencing imperative,  John Russell, Genetics and Bioengineering News, Sept 1

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CDC-Authored Genomics Publications


CDC authors are indicated in bold

Acute chest syndrome is associated with single nucleotide polymorphism-defined beta globin cluster haplotype in children with sickle cell anaemia
Bean CJ, Boulet SL, Yang G, Payne AB, Ghaji N, Pyle ME, Hooper WC, Bhatnagar P, Keefer J, Barron-Casella EA, Casella JF, Debaun MR. Br J Haematol. 2013 Aug 16.

Newborn screening: From Guthrie to whole genome sequencing
Caggana M, et al. Public Health Rep 2013 Sep;128(Suppl 2):14-9

Urinary bisphenol A concentrations and cytochrome P450 19 A1 (Cyp19) gene expression in ovarian granulosa cells: An in vivo human study
Ehrlich S, Williams PL, Hauser R, Missmer SA, Peretz J, Calafat AM, Flaws JA. Reprod Toxicol. 2013 Jul 10;42C:18-23.

Utilization of epidermal growth factor receptor (EGFR) testing in the United States: a case study of T3 translational research
Lynch JA, Khoury MJ, Borzecki A, Cromwell J, Hayman LL, Ponte PR, Miller GA, Lathan CS. Genet Med. 2013 Aug;15(8):630-8.

Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review
Palomaki GE, Melillo S, Marrone M, Douglas MP. Genet Med. 2013 Aug;15(8):600-11.

Molecular mechanisms of macrolide resistant invasive Streptococcus pneumoniae isolates from Alaska, 1986 to 2010
Rudolph K, Bulkow L, Bruce M, Zulz T, Reasonover A, Harker-Jones M, Hurlburt D, Hennessy T. Antimicrob Agents Chemother. 2013 Aug 19.

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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