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Genomics & Health Impact Update

Volume 31   Number 14   September 30 - October 12, 2013About the Update


Features of the Week

Evidence Matters in Genomic Medicine: Recent EGAPP Products

EGAPP logo

What is EGAPP? An evidence-based approach to genomic medicine

EGAPP recommendation:  Does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes?
Genetics in Medicine 2013 Sep 26

EGAPP review: Testing of CYP2C19 variants and platelet reactivity for guiding antiplatelet treatment, AHRQ, Evidence Reviews, Sep 25

EGAPP initiative: Lessons learned, 2005-2012


Mapping Cancer Genomes: What's the Health Impact?


Perspective from the National Cancer Institute: The benefits of looking across many cancer genomes.

The Cancer Genome Atlas Pan-Cancer analysis project, Nature Genetics, Sep 27

Focus on TCGA pan cancer analysis, by Orli Bahcall, Nature Genetics Free Association blog, Sep 27

Cancer cartography- Mapping the DNA of thousands of tumours will help understand them, The Economist, Sep 28


Direct to Consumer Genomic Tests: Practice and Impact


Consumer Genetics Conference 2013

A field maturing: The 2013 Consumer Genetics Conference, Bio IT World, Sep 30

Impact of direct-to-consumer genomic testing at long term follow-up.
Bloss CS, et al J Med Genet. 2013 Jun;50(6):393-400

Characteristics of genomic test consumers who spontaneously share results with their health care provider.
Darst BF, et al Health Commun. 2013

Scientific foundation for personal genomic tests: recommendations for action
Khoury MJ, Genetics in Medicine 2009

CDC blog post: Think after you spit, personal genomic tests & teachabe moment (2012)


Genomics & Electronic Health Records

electronic health record

Genetics in Medicine series on integration of genomics into electromic health records.

The undiscovered country: the future of integrating genomic information into the EHR
Joseph Kannry MD and Marc S. Williams MD, Genetics in Medicine, Sep 26

Processes and factors involved in decisions regarding return of incidental genomic findings in research
Robert Klitzman et al. Genetics in Medicine, Sep 26

Practical challenges in integrating genomic data into the electronic health record.  Abel N. Kho et al. Genetics in Medicine, Sep 26

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record
Peter Tarczy-Hornoch et al. Genetics in Medicine, Sep 26


Whole Genome Sequencing in Clinical Practice: Translational Research

Whole Genome Sequencing

NHGRI Division of Genome Medicine plans, directs, funds and facilitates multi-disciplinary research to identify and advance approaches for the use of genomic data to improve diagnosis, treatment and prevention of disease

CDC paper: The continuum of translation research in genomic medicine [PDF 390.45 KB]

CDC paper: Beyond base pairs to bedside: A population approach for using genomics to improve health.
Khoury MJ, et al. Am J Publ Health 2012

CDC paper: The arrival of genomic medicine to the clinic is only the beginning of the journey. [PDF 165.38 KB]
Evans J, et al. Genetics in Medicine, 2013


Outbreak Investigations, Genomics & Global Public Health

doctor holding globe

CDC detectives respond to disease outbreaks

CDC information on  Food CORE: Enhancing foodborne disease outbreak response

Global public health in an age of genomics,  by Dr Philippa Brice, PHG Foundation, Sep 30
The public health benefits of genomics in the control of infectious diseases (notably diagnosis, outbreak monitoring and accelerated vaccine design) are becoming very evident;

Advanced molecular detection and response to infectious disease outbreaks

CDC blog post: Genomes at CDC, man, mouse and microbes (2013)


Hispanic/Latino Heritage Month: Know your Family History

a hispanic family

CDC information:  Learn about the diverse demographic, and link to more information on the health and well-being of Hispanic/Latino Populations in the United States

My Family Health Protrait: A tool from the Surgeon General, collect your family history in Spanish

Diabetes brochure in Spanish: Family history and diabetes-Take steps towards better health!

Genomic health disparities, Type 2 diabetes and Mexican-Americans
Liliana Uribe-Bruce et al. Endoc Reviews (2012)


HIV Prevention: Host and Pathogen Genomics

AIDS in word blocks with a red ribbon surrounded by paper figures

National Gay Men's HIV/AIDS Awareness Day

Landmarks of the HIV genome

Whole genome deep sequencing of HIV-1 reveals the impact of early minor variants upon immune recognition during acute infection.
PLoS Pathogens (2012)

Did you know? 1758 genes have been reported with HIV Infections, risk and outcomes, including 27 genomewide association studies. The top reported genes are CCR5 and HLA-B. To find out more, visit the HuGE Navigator

A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A.
Hum Mol Genet (2013)

HLA-B*5701 testing to predict abacavir hypersensitivity in HIV treatment
Joseph D. Ma, Kelly C. Lee, and Grace M. Kuo PLoS Currents Evidence on Genomic Tests.

Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing (2012), Clinical Pharmacology & Therapeutics

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Select Events

conference room

Genetics and Primary Care Institute webinar: Integrating Genetics in Your Practice: Overview of Genetic Testing and Screening. Oct 8




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Funding Opportunities

piggy bank on top of a few books

NIH awards $17 million in grants to augment genomics research in Africa, NIH News, Sep 30

NIH launches new centers to accelerate lab innovations to improve public health, NIH News, Sep 26

New NIH-funded resource focuses on use of genomic variants in medical care, NIH News, Sep 25





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Reports and Publications

Ethics, Policy and Law

Genomics in Practice

a doctor pointing to an item

Actionable, pathogenic incidental findings in 1,000 participants exomes.
Michael O. Dorschner et al, Am J Human Genetics, Sep 19

Hereditary hemochromatosis: Missed diagnosis or misdiagnosis?
Cherfane CE, et al. Am J Med 2013 Sep

Opportunities for genomic clinical decision support interventions.
Casey Lynnette Overby et al, Genetics in Medicine, Sep 19

Predictive genetic testing for complex diseases: a public health perspective
Marzuillo C, et al. QJM 2013 Sep

Guidelines and Recommendations

chess pieces with arrows pointing up

Recommendations from the EGAPP Working Group: Does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes?
Genetics in Medicine, Sep 26

ACMG Standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
Sarah T. South et al. Genetics in Medicine, Sep 26

Ensuring the integrity of clinical practice guidelines: a tool for protecting patients
Lenzer J, et al. BMJ. 2013 Sep 17;347:f5535.

Gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: MammaPrint, Oncotype DX, IHC4 and Mammostrat (DG10), NICE, Sep 20

NICE recommends Genomic Health's Oncotype DX® test to guide chemotherapy treatment decisions for qualified early-stage invasive breast cancer patients,Yahoo, Sep 25

Medications for risk reduction of primary breast cancer in women: U.S. Preventive Services Task Force recommendation statement, USPSTF, Sep 24

Recommendations from the EGAPP Working Group: does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes?
Genetics in Medicine 2013 Sep 26

Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Northrup H, et al. Pediatric Neurology vol 49 iss 4 pg 243-254 2012 Oct

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Krueger D, et al. Pediatric Neurology vol 49 iss 4 pg 255-265 2012 Oct

New guidelines released for diagnosis, surveillance and management of rare genetic disease called tuberous sclerosis complex, Digital Journal, Sep 23

Testing of CYP2C19 variants and platelet reactivity for guiding antiplatelet treatment, AHRQ, Sep 25

Reviews & Commentaries on Science & Technology

stacked papers

Global public health in an age of genomics,  by Dr Philippa Brice, PHG Foundation, Sep 30

The next-generation sequencing revolution and its impact on genomics [PDF 664.59 KB]
Daniel C. Koboldt et al. Cell. Sep 2013

Personalized medicine and genetic malpractice
Gary E. Marchant & Rachel A. Lindor Genetics in Medicine, Sep 26

Mapping human epigenomes.
Chloe M. Rivera, Bing Ren Cell, Sep 26

DNA takes mystery out of medicine- New field of genomics helped crack patient's baffling case and shed light on future of health care, by Jules Knox, The Province, Sep 26

A BRCA journey,  PLoS Biologue, Sep 27

Different cancers, same mutations. Scientists document common genetic alterations in cancers of different origins,  by Ruth Williams, The Scientist, Sept 26

Steve Jobs left a legacy on personalized medicine. A type of DNA test the Apple CEO hoped might save his life is becoming widely available,  Antonio Regalado, MIT Technology Review, Sep 27

When will gene therapy come to the U.S.? Several gene therapies are or will soon be in late-stage human trials. One of them could be the first to get FDA approval for sale in the U.S., by Susan Young, MIT Reviews, Sep 30

Single-cell analysis: toward the clinic
Michael R Speicher Genome Med Aug 2013

Incidentally,...... (Interpreting incidental findings from DNA sequence data), by Anne Buchanan, The Mermaid's Tale, Sep 25

A dispatch from the genetic frontier, by Theo Bloom, PLos Blogs, Sep 24

The bursting of the big data bubble, Cathy O’Neill, September 22

Opinion: Translational research in crisis. Turning discoveries made in academic labs into innovative therapies requires a radically new approach. By Masoud H. Manjili, The Scientist, Sep 10

Opinion: Reasons for the R&D crisis. Response to an opinion in The Scientist charting current pitfalls in translational research. By Jan Brábek and Michael Fernandes, The Scientist,   Sep 23

Gene therapy with a difference, The New York Times, Sep 23

Genomics: Why individualized medicine matters, by Angelina Reyes, UCONN Today, Sep 23

Tools and Databases

numbers on a grid

A unified GMDR method for detecting gene–gene interactions in family and unrelated samples with application to nicotine dependence.
Guo-Bo Chen, et al. Human Genetics 2013

The NCI Cancer Genomics and Epidemiology Navigator online searchable database: provides linked information on cancer genomics & epidemiology funding, publications, and genomic tests

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CDC-Authored Genomics Publications


CDC authors are indicated in bold

Progress in increasing electronic reporting of laboratory results to public health agencies — United States, 2013, MMWR, Sep 26

Collaborative cancer epidemiology in the 21st century: the model of cancer consortia.
Burgio MR Jr, Ioannidis JP, Kaminski BM, Derycke E, Rogers S, Khoury MJ, Seminara D.
Cancer Epidemiol Biomarkers Prev. 2013 Sep 19.

Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study—United States, 1997–2007
Jill Glidewell MSN, MPH, Jennita Reefhuis PhD, Sonja A. Rasmussen MD, MS, Alison Woomert PhD, Charlotte Hobbs MD, PhD, Paul A. Romitti PhD & Krista S. Crider PhD

Application of real time RT-PCR for the genetic homogeneity and stability tests of the seed candidates for live attenuated influenza vaccine production.
Shcherbik S, Sergent SB, Davis WG, Shu B, Barnes J, Kiseleva I, Larionova N, Klimov A, Bousse T. J Virol Methods. 2013 Sep 18.

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.
Stewart A Phd. PLoS Curr. 2013 Sep 16;5.

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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