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Genomics & Health Impact Update

Volume 31   Number 6   August 8 - August 15, 2013 About the Update

 


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 spinning wheels and genomes revealed: sequencing is no longer a sleeping controversy. March 2013

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing, Genetics in Medicine, Jun 2013

 

Genome-wide Association Studies: Public Health Impact


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

 

Personal Genomic Tests, Science & 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

 

Cancer, Genomics & Health Disparities


cancer cells

CDC information: Health disparities in cancer

CDC blog post: Why we can’t wait: A public health approach to health disparities in genomic medicine

Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk.
Levy D, et al. Genetics in Medicine, 2011

Minireview: The molecular and genomic basis for prostate cancer health disparities
Isaac J. Powell and Aliccia Bollig-Fischer. Molecular Endocrinology, Jun 2013

 

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

 

E. coli Infection, Genetics & Hemolytic Uremic Syndrome


e. coli

CDC feature: E. coli infection and food safety

Pediatric hemolytic uremic syndrome,  Medscape, June 29 

What is atypical hemolytic-uremic syndrome? From the NIH Genetics Home Reference

Did you know: 63 genes have been reported with Hemolytic-Uremic Syndrome. To find out more, visit the HuGE Navigator

CDC blog post: Genome vs genome (2011)

 

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

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  

 

Down Syndrome


mother with Down syndrome gilrl

New CDC study estimates about 250,000 people live with Down syndrome in the United States.

Incorporating DNA sequencing into current prenatal screening practice for Down's syndrome
Wald NJ, Bestwick JP. PLoS One. 2013;8(3):e58732.

Non-invasive prenatal testing for Down's syndrome: Pregnant women's views and likely uptake.
Lewis C, et al. Public Health Genomics. 2013 Jul 25

A new era in noninvasive prenatal testing
Morain S, et al. N Engl J Med. 2013 Jul 17.

Learning about Down syndrome, from the National Human Genome Research Institute

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Select Events


conference room

Dive into the gene pool: Integrating genetics and genomics into your pediatric primary care practice, Chicago, IL, August 9-10

Translational research in genomic medicine: What can genomic medicine offer today? How can genomics improve screening and prevention of disease? Emory University-CDC Course, Atlanta, Georgia, August 15-16

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

Living with Lynch conference, Minneapolis, Minnesota, September 14

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Funding Opportunities


piggy bank on top of a few books

NIH research on the role of epigenetics in social, behavioral, environmental and biological relationships, throughout the life-span and across generations

 

 

 

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Reports and Publications


Genomic Tests

a hand holding blood samples

Clinical utility gene card for: 3-M syndrome - update 2013
Holder-Espinasse M, et al. Eur J Hum Genet 2013 Jul

Short read (Next-gen) sequencing: A tutorial with cardiomyopathy diagnostics as an exemplar.
Punetha J, Hoffman EP. Circ Cardiovasc Genet. 2013 Jul 14.

Pharmacogenomics

a pharmacist helping a woman

Clinical applications of pharmacogenetics: Present and near future
Gladding PA Cleve Clin J Med 2013 Aug;80(8):477-82

Reviews & Commentaries on Science & Technology

stacked papers

If I'm healthy, why should I have my genome sequenced? Mermaid’s Tale blog post, Aug 6

Don’t call it “junk DNA” anymore, GenNewsHighlights, Aug 5

NIH ‘superbug’ was thwarted with help of two scientists (an epidemiologist and a genomicist), Washington Post, Jul 31

Close encounters of the microbial kind, by Kathie Y. Sun, NHGRI, Jul 31

NIH News: Gene combinations help predict treatment success for alcoholism medication, NIH, Aug 2

Novelty in the target landscape of the pharmaceutical industry
Pankaj Agarwal et al. Nature Reviews Drug Discovery Vol: 12, Pag: 575–576 (2013)

Validating therapeutic targets through human genetics
Robert M. Plenge et al. Nat Rev Drug Discovery, Jul 19

Barriers to the genomic revolution? By Dr Philippa Brice, PHG Foundation, Aug 1

Tumor-biomarker diagnostics- breaking a vicious cycle
Daniel F. Hayes et al. Sci Trans Med, Jul 31

A strong start for electronic health records in the United States, by Julia Adler-Milstein and Ashish K. Jha. Newsatjama,  Aug 2

Understanding the effects of genes on human traits, by  Mike Spear  Genomics Blog, Aug 1

Outsmart your genes: understanding BRCA1/2 risk, Dana Farber Slide Set, Jun 2013

Functional validation of genomic discoveries, Mass Genomics.

DNA methylation contributes to natural human variation.
Heyhn H et al. Genome Res. 2013 Aug 1.

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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.

 

Send Web sites that you would like to see included in a future update to cdcinfo@cdc.gov

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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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