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Genomics & Health Impact Update

Volume 30   Number 26   June 27 - July 3, 2013

Spotlight: Public Health Genomics Implementation- Clickable State Map

US Map

New CDC clickable state public health genomic map on implementation of three Tier I genomic applications: Hereditary breast / ovarian cancer, Lynch syndrome and familial hypercholesterolemia.

New CDC blog post: A public health genomic state-by-state clickable map: Accelerating implementation of genomics applications to improve population health

CDC information: Public health action is now needed beyond newborn screening

CDC blog post: Implementing evidence-based genomics recommendations at the intersection of public health and healthcare


Features of the Week

Why We Can't Wait: Health Disparities in Genomic Medicine

six circles surrounding a circle including this text: Ensuring Effective and Responsible Use of Genomic Medicine to Improve Population Health. Circle 1 text: Community. Circle 2 text: Health Care Delivery System. Circle 3 text: Employers and Business. Circle 4 text: The Media. Circle 5 text: Academia. Circle 6 text: Governmental Public Health Infrastucture

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

Why we can’t wait: 2013 Conference to eliminate health disparities in genomic medicine

CDC feature: Breast cancer disparities

CDC Health Equity Matters Newsletter

Amplifying the voice of the underserved in the implementation of the Affordable Care Act, Institute of Medicine Discussion Paper, June 21


Genomics and Cancer Survivorship

figures with breast cancer symbol connectedCDC feature: Cancer survivorship
NCI paper: Leveraging epidemiology and clinical studies of cancer outcomes: Recommendations and opportunities for translational research.
Joanne W. Elena et al. JNCI 2013

Barriers to breast and colorectal cancer survivorship care: Perceptions of primary care physicians and medical oncologists in the United States
Katherine S. Virgo et al. J Clinical Oncology 2013 May 20

NCI Office of Cancer Survivorship dedicated to enhancing the length and quality of life of survivors and addressing their unique needs

Genetics and cancer survivors: from the National Comprehensive Cancer Network

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Diseases of the Week

Middle East Respiratory Syndrome Corona Virus (MERS-CoV)


CDC feature: Middle East Respiratory Syndrome  

Middle East respiratory syndrome coronavirus (MERS-CoV) – World Health Organization update, Jun 26

MMWR: Update: Severe respiratory illness associated with middle east respiratory syndrome coronavirus (MERS-CoV) — worldwide, 2012–2013

Hospital outbreak of middle east respiratory syndrome coronavirus.
Abdullah Assiri, et al. NEJM, June 26

Genome sequencing tracks outbreak of novel pneumonia virus, by Dr Philippa Brice, PHG Foundation, Jun 24

CDC Advanced Molecular Detection Initiative

CDC feature: Exciting updates to CDC’s Solve the Outbreak iPad App


Heart Attacks

Anyone can have a stroke get the facts

Cardiac deaths like James Gandolfini's are too common- the American Heart Association's president talks about how heart attacks can be avoided, USA Today, June 21

Can heart attacks be prevented? Know your ABCS, the Million Hearts Initiative

CDC information: Genomics, family history & heart disease   

Early family history of heart disease informs earlier screening for cholesterol, US Preventive Services Task Force

What is familial hypercholesterolemia? Information from the FH Foundation


Type 1 Diabetes


Seroconversion to multiple islet autoantibodies and risk of progression to diabetes in children
Anette G. Ziegler et al. JAMA June 19 

The evolution of type 1 diabetes.
Jay S. Skyler; Jay M. Sosenko JAMA June 19

When does Type 1 diabetes begin to develop? Research reveals how to identify those at highest risk. American Diabetes Association 2013 meeting session

CDC diabetes public health resource

Children and diabetes — More CDC Information

Did you know? 639 genes have been reported in relation to risk and outcomes of type 1 diabetes, including 32 genomewide association studies. The most common reported genes are HLA related. To find out more, visit the HuGE Navigator




CDC information: Learn the signs and symptoms of TB disease

CDC tuberculosis information

Did you know? 286 genes have been reported in relation to tuberculosis susceptibility & outcomes, including 9 genomewide association studies. To find out more, visit the HuGE Navigator


Cytomegalovirus Infection


CDC information: Cytomegalovirus: Protect your baby

Did you know? 66 genes have been reported in relation to cytomegalovirus infection/outcomes, including 2 genomewide association studies. To find out more, visit the HuGE Navigator


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Select Events

conference room

Fifth Annual Consumer Genomics Conference, Sept 25-27, Boston, MA

Individualizing Medicine Conference, September 30 - October 2, Rochester, MN

The 14th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2013), September 30th – October 2nd, Seoul, South Korea

Third Annual Translational Bioinformatics Conference, October 2-4, Seoul, South Korea

The 5th Annual Personalized Medicine Conference- The Emerging Practice of Personalized Medicine, October 21-22, Boston, MA

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Funding Opportunities

piggy bank on top of a few books

PCORI’s Engagement Awards: A New Opportunity to Build New Research Partnerships
by Anne C. Beal, MD, MPH, Susan Sheridan, MBA, MIM, and Suzanne Schrandt, JD, Jun 17

NIH to fund collaborations with industry to identify new uses for existing compounds, Jun 18

NIH Funding: Person-Centered Outcomes Research Resource (U2C)

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Reports and Publications

stacked journals


A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing
Metcalfe KA, et al. Br J Cancer 2013 Jun

Aspirin use and risk of colorectal cancer according to BRAF mutation status
Reiko Nishihara, Paul Lochhead, Aya Kuchiba, et al. JAMA. 2013;309(24):2563-2571.

Differential effects of aspirin before and after diagnosis of colorectal cancer
Boris Pasche JAMA. 2013;309(24):2598-2599.

Gene mutation may have effect on benefit of aspirin use for colorectal cancer, EurekAlert, Jun 25

Association between genomic recurrence risk and well-being among breast cancer patients
Retel VP, et al. BMC Cancer 2013 Jun;13(1):295

BreastPRS is a gene expression assay that stratifies intermediate-risk Oncotype DX patients into high- or low-risk for disease recurrence
D'Alfonso TM, et al. Breast Cancer Res Treat 2013 Jun

Comprehensive molecular characterization of clear cell renal cell carcinoma.
The Cancer Genome Atlas Research Network. Nature, June 23

Deep sequencing accurately predicts prolonged survival in multiple myeloma patients, Jo Cavallo, ASCO Post, Jun 26


Ethics, Policy and Law

Data sharing in large research consortia: experiences and recommendations from ENGAGE.
Isabelle Budin-Ljøsne et al. EJHG June 19

Genes unchained: loss of patent protection could expand access to genetic tests and treatments, CMAJ News, Jun 24

A victory for genes, Spoonful of Medicine, Nature Medicine, Jun 24

Creating a global alliance for sharing of genomic and clinical data, White House Blog Post, Jun 20


Family History

Improving assessment of cardiovascular disease risk by using family history: an integrative literature review
Kashani M, et al. J Cardiovasc Nurs 2013 Jun

Racial and ethnic variations in the effects of family history of colorectal cancer on screening compliance
Perencevich M, et al. Gastroenterology 2013 Jun


Genomics in Practice

Genetic testing practices in infants with congenital heart disease
Connor JA, et al. Congenit Heart Dis 2013 Jun

Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training
Salm M, et al. J Genet Couns 2013 Jun

Genetic testing for psychiatric disorders: Its current role in clinical psychiatric practice, By Jehannine Austin, Psychiatric Times, Jun 11

Genetics in primary care: Seven key roles for the primary care provider, Genetics and Primary Care Institute


Genomic Tests

Special report: Multiple molecular testing of cancers to identify targeted therapies, Blue Cross Blue Shield Association Technology Evaluation Center (TEC), Jun 25


Guidelines and Recommendations

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green et al. Genetics in Medicine, Jun 20

NICE recommends preventive drugs for breast cancer-Women with a high risk of developing breast cancer (a lifetime risk of 30% or more) should be offered tamoxifen or raloxifene for five years, NICE recommends
BMJ 25 June 2013

Institute of Medicine Report: The CTSA Program at NIH: Opportunities for advancing clinical and translational research, June 25, 2013


Newborn Screening

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening
Waisbren SE, et al. Dev Disabil Res Rev 2013 Jun;17(3):260-8

Utah now screening infants for ‘boy in the bubble’ syndrome Utah to screen at birth for “boy in the bubble” syndrome; earlier test may have kept girl from “heartbreaking” ordeal, by Kirsten Stewart, The Salt Lake Tribune, Jun 23



Pharmacogenomics: Recent advances and future directions, special section in the June issue of the Journal of Human Genetics


Public Health Sciences

Environmental and genomic factors as well as interventions influencing smoking cessation: A systematic review of reviews and a proposed working model
de Viron S, et al. Public Health Genomics 2013 Jun

Intermediate-dose versus high-dose prophylaxis for severe hemophilia: comparing outcome and costs since the 1970s.
Fischer K,et al. Blood. 2013 Jun 18

Lessons learned from implementing a national infrastructure in Sweden for storage and analysis of next-generation sequencing data. [PDF 281.93 KB]
Lampa S, et al. BioMedCentral Jun 25

Next-generation sequencing in genetic hearing loss
Yan D, Tekin M, Blanton SH, et al. Genet Test Mol Biomarkers. 2013 Jun 5.

Goal of identifying nearly all genetic causes of deafness is within reach, Medical News Today, Jun 24


Reviews and Commentaries on Science & Technology

Father’s genetic quest pays off- Mutation provides clue to daughter’s undefined syndrome. By Brendan Maher, Nature News, Jun 26

The body-data craze- technology has revolutionized what we can measure about ourselves. But is all that tracking good for our health? By Alissa Quart , The Daily Beast, Jun 26

The limits to de-identification of clinical data, by William Hersh, Informatics Professor, Jun 23

The genome's 3-D structure shapes how genes are expressed, Science Daily Jun 22

Population medicine: Let's get over it! Eric Topol, Topolog, Jun 21

Bacterial DNA in human genomes, by Ed Yong, The Scientist, Jun 20

Light and nanoprobes detect early signs of infection, Duke University News Release, Jun 20

Could big data beat breast cancer? New warehouse and analytics platform 'allows us to ask questions that we just simply couldn't ask before', Healthcare IT News, Jun 20

The American Statistical Association and big data, AmStatNews, Jun 2013

Russ Altman discusses how genetics can impact your response to prescription drugs (TEDMED Video)

Listening to the genome: Music or noise? by Carl Zimmer, National Geographic, Jun 2013


Tools and Databases

The NGS WikiBook: a dynamic collaborative online training effort with long-term sustainability.
Briefings in Bioinformatics, June 21

PediaGene: "Based on the AAP manual Medical Genetics in Primary Care, this application puts genetic screening tools and resources at your fingertips", AAP News, Jul

Providing access to risk prediction tools via the HL7 XML-formatted risk web service
Chipman J, et al. Breast Cancer Res Treat 2013 Jun

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CDC-Authored Genomics Publications


CDC authors are indicated in bold

Human G9P[8] rotavirus strains circulating in Cameroon, 1999-2000: genetic relationships with other G9 strains and detection of a new G9 subtype
Esona MD, Mijatovic-Rustempasic S, Foytich K, Roy S, Banyai K, Armah G, Steele A, Volotao E, Gomez M, Silva M, Gautam R, Quaye O, Tam K, Forbi J, Seheri M, Page N, Nyangao J, Ndze V, Aminu M, Bowen M, Gentsch J. Infect Genet Evol. 2013 Jun 13.

Antimicrobial resistance genes in multidrug-resistant Salmonella enterica isolated from animals, retail meats, and humans in the United States and Canada
Glenn LM, Lindsey RL, Folster JP, Pecic G, Boerlin P, Gilmour MW, Harbottle H, Zhao S, McDermott PF, Fedorka-Cray PJ, Frye JG. Microb Drug Resist. 2013 Jun;19(3):175-84.

Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth
Gilliam LK, Pihoker C, Ellard S, Hattersley AT, Dabelea D, Davis C, Dolan LM, Greenbaum CJ, Imperatore G, Lawrence JM, Marcovina SM, Mayer-Davis E, Rodriguez BL, Steck AK, Williams DE. J Clin Endocrinol Metab. 2013 Jun 14.

Plasmodium vivax merozoite surface protein-3 (PvMSP3): expression of an 11 member multigene family in blood-stage parasites
Jiang J, Barnwell JW, Meyer EV, Galinski MR. PLoS One. 2013 ;8(5):e63888.

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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