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Genomics & Health Impact Update

Volume 31   Number 12   September 19 -26 , 2013About the Update

 


Features of the Week


Whole Genome Sequencing for All? Not Ready for Prime Time


Whole Genome Sequencing

CDC blog post: Deploying the whole genome sequence into clinical and public health practice: one base pair at a time (2011)

Genome sequencing for healthy individuals.
Saskia C. Sanderson. Trends in Genetics, Sep 11

If I'm healthy, why should I have my genome sequenced? Mermaid Tale Blogpost, Aug 6

Should you get sequenced? Nancy Snyderman, NBC News, August 2013

Sequenced from the start. Nature Editorial- “The day when all children will be sequenced at birth — if not before — draws ever nearer”, September 11

Whole genome sequencing in support of wellness and health maintenance. [PDF 262.34 KB]
Patel C et al. Genome Medicine, June 2013

Should we sequence everyone's genome? No.
Frances Flinter BMJ 2013;346:f3132

Should we sequence everyone's genome? Yes.
John Burn BMJ 2013;346:f3133

 

Returning Incidental Findings in Clinical Whole Genome Sequencing? The Debate Continues


a girl sleeping

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

ACMG clarifies statements on return of incidental findings [PDF 132.05 KB]

ACMG recommendations on incidental findings are flawed scientifically and ethically
Holtzman NA Genet Med 2013 Sep;15(9):750-1

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard Townsend A, et al. Genet Med 2013 Sep;15(9):751-2

Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing.
Barbara J. Evans, Genetics in Medicine, Sep 12

Disclosing incidental findings in genetics contexts: A review of the empirical ethical research
Christenhusz GM, et al. Eur J Med Genet 2013 Sep

 

Antibiotic Resistance, Genomics & Public Health


pills and DNA

CDC report: Antibiotic resistance threats in the United States, 2013 gives a first-ever snapshot of the burden and threats posed by the antibiotic-resistant germs having the most impact on human health.

CDC Director's video briefing: Serious health threat of antibiotic-resistant germs, Sep 16 

New national strategies to tackle antibiotic resistance, by Dr Philippa Brice, PHG Foundation, Sep 17

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

Genomic analysis of superbug provides clues to antibiotic resistance. Science Daily (2011)

Coping with antibiotic resistance: contributions from genomics.
Gian Maria Rossolini et al. Genome Medicine (2010)

Antimicrobial drug resistance, information from the National Institute on Allergy and Infectious Diseases

Genomics Research: The underpinning of infectious disease prevention and control strategies. Public Health Genomics special issue (2013)

 

Genetic Counseling, Health Insurance & Public Health


genetic counseling

What is genetic counseling and who are genetic counselors? Information from the National Society for Genetic Counselors

One health insurer will require patients to get genetic counseling before testing for selected genetic conditions. Matthew Sturdevant, Hartford Courant August 2013

American Society For Clinical Oncology: New insurance policy on cancer genetic testing poses risks to high quality cancer care. Sep 6 

CDC blog post : From genetic counseling in individuals to cascade screening in populations: An emerging role for public health practice (2012)

 

September 24 is Familial Hypercholesterolemia Day


a heart

High cholesterol in the family: A heart disease risk you may not know you have, by Jennifer J Brown, PhD, Everyday Health

International Familial Hypercholesterolemia Summit: From awareness to action, September 19, Annapolis, Maryland

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. Consensus Statement of the European Atherosclerosis Society
Eur Heart J
, Aug 15

 

Genetic Epidemiology: What a Difference 20 Years Can Make!


Manhattan plot

New CDC blog post: Genetic epidemiology-what a difference 20 years can make!

Human genome epidemiology: Building the evidence base for using genomic information to improve health and prevent disease

The Human Genome Epidemiology Navigator (HuGE Navigator): An online continuously update curated database of epidemiologic studies of human genetic variation in relation to human diseases

GWAS Integrator: Provides robust lookup and analytic functionalities for all published GWAS studies that are available in several databases

Genetic epidemiology with a capital E, Ten years after
Muin J. Khoury, et al. Genetic Epidemiology (2011) 

 

50 Years of Newborn Screening


newborn baby

Newborn screening: Saving lives for 50 years- What do you know about newborn screening? Take CDC quiz to find out

CDC information on newborn screening
Each year, millions of babies in the U.S. are routinely screened, using a few drops of blood from the newborn's heel, for certain genetic, endocrine, and metabolic disorders

March of Dimes information: Early detection due to Newborn Screening saves & improves the lives of 12000 babies a year

 

Minority Health, Health Disparities & Genomics


young adults of different ethnicity

CDC information: 25 years a champion for health equity

CDC information: Health disparities in cancer

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

Society, genetics, and health, American Journal Public Health, October 2013 supplement

Integrating social science and behavioral genetics: Testing the origin of socioeconomic disparities in depression
Briana Mezuk et al. AJPH, October 2013

Deep integration: Letting the epigenome out of the bottle.
Arline T. Geronimus. AM J Public Health, October 2013

 

Evidence on Genomic Tests: Recent Reviews in PLoS Currents


different beakers from above

Genetic testing strategies in newly diagnosed endometrial cancer patients aimed at reducing morbidity or mortality from Lynch syndrome in the index case or her relatives.Sep 16

Use of the Corus® CAD gene expression test for assessment of obstructive coronary artery disease likelihood in symptomatic non-diabetic patients. Aug 26

SCN1A genetic test for Dravet syndrome (severe myoclonic epilepsy of infancy and its clinical subtypes) for use in the diagnosis, prognosis, treatment and management of Dravet syndrome. Apr 25

The DecisionDx-UM gene expression profile test provides risk stratification and individualized patient care in uveal melanoma. Apr 9

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Select Events


conference room

Clinical Genomics in the 21st Century: Jackson Laboratory, Oct. 5-6 Farmington, CT

The 32nd National Society For Genetic Counsellors Annual Education Conference, Oct 9-12, 2013, Annaheim, CA

Genomics Forum, American Public Health Association, Nov 2-6, Boston, MA

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Reports and Publications


Newborn Screening

a newborn foot

Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil
de Castro Lobo CL, et al. Pediatr Blood Cancer 2013 Sep

Public Health Sciences

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

The cost-effectiveness of maturity-onset diabetes of the young genetic testing - translating genomic advances into practical health applications
Naylor RN, et al. Diabetes Care 2013 Sep

The establishment of core competencies for Canadian genetic counsellors: Validation of practice based competencies
Ferrier RA, et al. J Genet Couns 2013 Sep

Genetic susceptible locus in NOTCH2 interacts with arsenic in drinking water on risk of Type 2 Diabetes.
Pan WC, et al. PLoS One. 2013 Aug 14;8(8):e70792

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
Franceschini N, et al. Am J Hum Genet. 2013 Sep 5;93(3):545-54.

Genes tied to high blood pressure found in black Americans, U.S. News & World Report, Sep 16

Genotype- and phenotype-directed personalization of antiplatelet treatment in patients with non-ST elevation acute coronary syndromes undergoing coronary stenting
Ahn SG, et al. Korean Circ J 2013 Aug;43(8):541-9

A host-based RT-PCR gene expression signature to identify acute respiratory viral infection
Zaas A, et al. Sci Transl Med 5(203):203ra126 2013 Sep 18

Study supports potential of PCR-based blood test for respiratory virus infection, Genome Web, Sep 18 [by free subscription only]

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research
Ioannou L, et al. Genet Med 2013 Sep

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
Peter A C 't Hoen et al. Nature Biotechnology, September 15

The return of unexpected research results in a biobank study and referral to health care for heritable Long QT syndrome
Haukkala A, et al. Public Health Genomics 2013 Sep:241-50

Stakeholder engagement: a key component of integrating genomic information into electronic health records
Hartzler A, et al. Genet Med 2013 Sep

Reviews & Commentaries on Science & Technology

stacked papers

The genetics of asthma and allergic diseases: pieces of the puzzle are starting to come together.
Laprise C, Bouzigon E. Curr Opin Allergy Clin Immunol. 2013 Oct;13(5):461-2.

Tumour heterogeneity in the clinic
Bedard P, et al. Nature 501, 355-364 2013 Sep 18

NIH approves first uses of HeLa genome, Nature blog post, Sep 17

DNA double take, Carl Zimmern, The New York Times, Sep 16

NIH research matters: Gut microbes and diet interact to affect obesity, NIH, Sep 16

Uncovering functional variation in humans by genome and transcriptome sequencing, Genomes Unzipped blog, Sep 16

Why personalised medicine is bad for us all, by Donna Dickenson, New Scientist, Sep 16

The college class that could reveal your real father- College students are testing their own DNA, but the results — from paternity to genetic diseases — can be a shock, by K Cengel, Salon News, Sep 14

After disasters, DNA science is helpful, but often too pricey, National Public Radio Health news, Sep 13

How personalized will medicine get? National Public Radio Health news, Sep 13

10 reasons the human genome matters in medicine, GENENEWS Highlights, Sep 12

Economics of gene sequencing, by Jeanna Smialek , Bloomberg News, Sep 12

NIH scientists pursue new therapies to improve rare disease drug development, NIH News, Sep 12

Answering common questions about genetic testing, Videos from the NHS Education Center, UK

The rise of the digital epidemiologist: Using big data to track outbreaks and disasters, M Braga, Financial Post, Sep 9 

10 reasons for the data science mania, by Robin Bloor, Sep 5

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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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