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Genomics & Health Impact Update

Volume 31   Number 15   October 18 - 24, 2013About the Update



Features of the Week

Next Generation Sequencing in Clinical Practice: What's the Current Impact?

EGAPP logo

Whole-exome sequencing rises to top in largest clinical application for undiagnosed disease, by Liz Devitt, Nature Medicine, Oct 2

Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
Yaping Yang et al. New Engl J Med Oct 2

Editorial: Next-generation sequencing for clinical diagnostics
Howard J. Jacob. New Engl J Med Oct 2

Gene scans solve mystery diseases in kids, adults,  by Marilynn Marchione, Associated Press, Oct 2

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience
Caitlin B. Mauer et al. Genetics in Medicine, Oct 10

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.
Layla Shahmirzadi et al. Genetics in Medicine, Oct 10

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
Ohba C, et al. Neurogenetics 2013 Oct

Live blog: Medicine gets personal with genomics Tweet chat live blog on genomics and how it is revolutionizing medicine, by Dr Richard Besser, ABC News, Oct 2


Incidental Findings in Medical Sequencing: Finding Common Ground

hand holding sequencing

Finding common ground.
James P. Evans MD, Genetics in Medicine Oct 17

Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not
Crawford G, et al. Genet Med 2013 Oct

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. Mar 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]


October is Breast Cancer Awareness Month

hand holding pink ribbon with DNA in background

CDC information: Breast cancer awareness

CDC information: Breast cancer and family health history

CDC information: Did you know? BRCA counseling and evaluation for breast and ovarian cancer is a tier 1 genomic application supported by evidence-based recommendations

Jolie's doctor says her story raises awareness, saves lives, by Liz Neporent via Good Morning America, Oct. 15

CDC podcast: Hereditary breast and ovarian cancer: BRCA and your patient

Breast cancer awareness: Jacqui Jeras talks about preventative mastectomy, by Greta Kreuz, ABC News, Oct 1

‘Decoding Annie Parker’ portrays hunt for breast cancer genes. Film follows both a cancer survivor and the researcher who found BRCA1, by Tina Hesman Saey, Science News, Oct 9


October is Health Literacy Month: Genomics & Health


CDC information: Health Literacy: the capacity to obtain, process, and understand basic health information and services to make appropriate health decisions

American Medical Association: Over 89 million American adults have limited health literacy skills.

CDC updated information on genomics and health and family health history

What does it mean to be genomically literate? National Human Genome Research Institute Meeting Report. Belen Hurle et al. Genetics in Medicine (2013)

NHGRI reports on first genomic literacy workshop, by Omar McCrimmon (2013)

Genes in Life from Genetic Alliance: How do my genes affect my health? Your health depends on a combination of your genes, choices, and environment

Genetics and genomics for healthcare: from the UK National Genetics and Genomics Education Center

The 9th annual DNA day essay contest!  Open to students in grades 9-12. The contest aims to challenge students to examine, question, and reflect on important concepts in genetics.


Outbreak Investigations, Genomics & Global Public Health

doctor holding globe

CDC detectives respond to disease outbreaks

CDC information on FoodCORE: 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)


Diabetes, Celebrities & Family History

the word diabetes is highlighted in a dictionary

The "Tom Hanks Effect": Diabetes docs see positives in actor's publicizing his diagnosis

Tom Hanks is one of 25 million Americans with diabetes. Here's how to reduce your chances of getting it too.

CDC information: Prediabetes: Am I at risk?

CDC information: Does diabetes run in your family? Take steps towards better health!

Lifestyle interventions for patients with and at risk for Type 2 Diabetes: A systematic review and meta-analysis.
Elizabeth Sumamo Schellenberg et al. Annals of Internal Medicine, Oct 15

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.

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


Gene-Environment Interaction & Cancer

broken DNA

Gene-environment interactions in cancer epidemiology: A National Cancer Institute think tank report.
Carolyn M. Hutter et al. Genetic Epidemiology, Oct 2013

Tackling the complexity of genes and environments in cancer, NCI Cancer Bulletin (2012)

CDC paper: Recommendations and proposed guidelines for assessing the cumulative evidence on joint effects of genes and environments on cancer occurrence in humans
Paolo Boffetta et al. Int J Epidemiol (2012)

CDC blog post (2011): Shall we have pie or stew?  Understanding genetic and environmental causes of human disease


Familial Hypercholesterolemia & Public Health

heart puzzle

Boost for familial hypercholesterolaemia (FH) cascade testing, By Dr Philippa Brice, PHG Foundation, Oct 15

The British Heart Foundation has agreed to provide funding to support the roll out of cascade testing for familial hypercholesterolaemia in the United Kingdom, [PDF 107.99KB] Oct 2013

CDC podcast: Cascade screening for familial hypercholesterolemia

What is familial hypercholesterolemia? Information from the FH Foundation

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Select Events

conference room

American Society for Human Genetics, Boston, MA, October 22-26

American Association for Cancer Research: Symposium on transforming cancer care through diagnostics and personalized medicine, Washington DC, October 29

Society for Epidemiologic Research  3rd Annual SERdigital Student Novel Methods Web Conference-  Will genetics revolutionize public health? November 6

Genomics Forum at the APHA Annual Meeting, Boston MA, November 2-6

New Developments with Primary Immunodeficiency Disorders. The Jeffrey Modell Diagnostic and Research Program for Primary Immunodeficiency Disorders at Children’s Hospital, Los Angeles, November 22

Bio-IT World and Cambridge Healthtech Institute- Clinical Exome Sequencing Changing the Nature of Genetic Diagnosis,  Lisbon, Portugal, December 4-5

Cambridge Healthtech Institute’s Inaugural Clinical Epigenetics- Interrogating Disease Epigenomes for Diagnostic, Prognostic & Therapeutic Utility, San Francisco, CA , February 10-12, 2014

Second Annual Meeting on Genomics in Medicine: Patient-centric view of genomic data, San Francisco, CA, February 13-14, 2014

American College of Medical Genetics and Genomics, Annual Meeting, Nashville TN, March 25-29, 2014

Human Genome Organization Meeting: Genome Variation and Human Health, Geneva, Switzerland, April 27-30, 2014

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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, Oct 18

Canadian genomics projects focus on personalised medicine, by Dr Philippa Brice, PHG Foundation, Oct 16



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Reports and Publications


several people

Analytical validation of the Oncotype DX prostate cancer assay -- a clinical RT-PCR assay optimized for prostate needle biopsies
Knezevic D, et al. BMC Genomics 2013 Oct;14(1):690

Comprehensive identification of mutational cancer driver genes across 12 tumor types
David Tamborero et al. Nature, Oct 2

Disclosure pattern and follow-up after the molecular diagnosis of BRCA/CHEK2 mutations
Kegelaers D, et al. J Genet Couns 2013 Oct

Effect of the 12-gene colon cancer assay results on adjuvant treatment recommendations in patients with stage II colon cancer
Cartwright T, et al. Curr Med Res Opin 2013 Oct

Gene expression profiling and expanded immunohistochemistry tests to guide the use of adjuvant chemotherapy in breast cancer management: a systematic review and cost-effectiveness analysis
Ward S, et al. Health Technol Assess 2013 Oct;17(44):1-302

Genomics: Comparisons across cancers
Ashworth A, et al. Nature 502, 306-307 Oct 17

Going with the flow: From circulating tumor cells to DNA
Francois-Clement Bidard et al. Sci Trans Med, Oct 16

Impact of familial risk and mammography screening on prognostic indicators of breast disease among women from the Ontario site of the Breast Cancer Family Registry
Walker MJ, et al. Fam Cancer 2013 Oct

Improvement of the quality of BRAF testing in melanomas with nationwide external quality assessment, for the BRAF EQA group
Emile JF, et al. BMC Cancer 2013 Oct;13(1):472

Misperceptions of ovarian cancer risk in women at increased risk for hereditary ovarian cancer
Meiser B, et al. Fam Cancer 2013 Oct

Multidisciplinary one-stage risk-reducing gynaecological and breast surgery with immediate reconstruction in BRCA-gene carrier women
Khadim MF, et al. Eur J Surg Oncol 2013 Sep

Mutations in regulators of the epigenome and their connections to global chromatin patterns in cancer
Christoph Plas et al. Nature Reviews Genetics, Oct 9

Mutational landscape and significance across 12 major cancer types
Kandoth C, et al. Nature 502, 333-339 Oct 17

PS2-31: Implementation of universal Lynch syndrome screening in an integrated health care delivery system
Kauffman T, et al. Clin Med Res 2013 Sep;11(3):161

The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers
Borreani C, et al. Clin Genet 2013 Oct

Which factors predict proposal and uptake of psychological counselling after BRCA1/2 test result disclosure?
Maheu C, et al. Psychooncology 2013 Oct

Family History

a family

Family history in young onset Parkinson's disease
Malek N, et al. J Neurol Neurosurg Psychiatry 2013 Nov;84(11):e2

Nurses' attitudes, abilities and educational preference related to using family pedigrees in clinical practice
Pestka EL, et al. Int J Nurs Pract 2013 Oct;19(5):498-506

PS2-39: Family history data from Clarity and other sources
Fuller S & Seger D Clin Med Res 2013 Sep;11(3):155

Understanding family health information seeking: A test of the theory of motivated information management
Hovick SR J Health Commun 2013 Oct

Better technology vital for incorporating family histories, by Susan D. Hall,  Fierce HealthIT, Oct 7

Newborn Screening

a newborn foot

Appropriateness of newborn screening for Alpha-1 antitrypsin deficiency; analysis and recommendations from a workshop
Teckman J, et al. J Pediatr Gastroenterol Nutr 2013 Oct

NA-newborn screening: Gaps in the evidence
Wilcken B Science 2013 Oct;342(6155):197-8

Simple newborn screening saving babies' lives,  by Wendy Leonard, Deseret News, Oct 8

The tests that babies need,  by Jane E. Brody, New York Times, Oct 14


a pharmacist helping a woman

Delivering pharmacogenetic testing in a primary care setting
Mills R, et al. Pharmgenomics Pers Med 2013;6:105-12

PS3-2: Informatics challenges to implement pharmacogenetics to clinical practice
Zhou Z, et al. Clin Med Res 2013 Sep;11(3):147-8

Prenatal Testing

Public Health Sciences

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

A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD)
O'Mahony C, et al. Eur Heart J 2013 Oct

A validated risk model to predict 90-day VTE events in post-surgical patients
Pannucci CJ, et al. Chest 2013 Oct

B4-1: An Overview of Kaiser Permanente's research program on genes, environment, and health
Schaefer C, et al. Clin Med Res 2013 Sep;11(3):146

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.
Ferran Casals et al PLoS Genetics, Oct 2013

Personalized genomic disease risk of volunteers.
Manuel L. Gonzalez-Garay et al. PNAS, Sep 30  

Primaquine failure and cytochrome P-450 2D6 in plasmodium vivax malaria.
Bennett JW et al.  N Engl J Med 2013; 369:1381-1382 

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 11:241-250.

Common variants associated with plasma triglycerides and risk for coronary artery disease
Ron Do et al. Nature Genetics, Oct 5

Measures of gene expression in sputum cells can identify TH2-high and TH2-low subtypes of asthma.
Michael C. Peters et al. J All Clin Immunol, Sep 2013

Genetically dictated change in host mucus carbohydrate landscape exerts a diet-dependent effect on the gut microbiota.
Purna C. Kashyap et al. PNAS, Sep 2013

Genetic makeup and diet interact with the microbiome to impact health, Science News, Sep 25

Newly discovered gene regulator could precisely target sickle cell disease, Science Daily News, Oct 10

Using the diffusion of innovations theory to understand the uptake of genetics in nursing practice: identifying the characteristics of genetic nurse adopters
Andrews V, et al. J Adv Nurs 2013 Sep

Reviews & Commentaries on Science & Technology

stacked papers

Proposed treatment to fix genetic diseases raises ethical issues, by Rob Stein, National Public Radio, Oct 9

Improving genome understanding- The cost and accuracy of genome sequencing have improved dramatically. George Church asks why so few people are opting to inspect their genome. Nature,  Oct 9

The way forward: Realizing the promise of precision medicine and big data. Peter Yu, ASCO Connection, Oct 7

Establishing transdisciplinary professionalism for improving health outcomes – Institute of Medicine Workshop Summary, Oct 7

Large scale sequencing efforts go beyond genetic variations towards function, by nextgenseek, Oct 5

Is direct to consumer genetic testing profitable? Seqonomics blog, Oct 6

Genes play a role in breast cancer risk for some; lifestyle changes cut risk for many, Nanci Hellmich, USA Today, Oct 1

Where are all the miracle drugs? The human genome was sequenced about 13 years ago. We were supposed to have major medical advances in a decade, by Brian Palmer, Slate Magazine, Sep 30

Dangerous work. Behavioral geneticists must tread carefully to prevent their research being misinterpreted. Editorial, Nature, Oct 2

The Human Genome Project wasn’t overhyped. The payoff just took time,  by Sasha Kamb Xconomy, Oct 3

Genomics England and the 100,000 genomes, by Caroline Wright, Genomes Unzipped, Oct 4 

Should you get tested for the breast cancer gene?  Beth Greenfield, Shine Staff, Oct 3

Why I love genetics, By Razib Khan, Discover Magazine, Oct 7

US to enter the fray on mitochondrial replacement,  by Dr Philippa Brice, PHG Foundation, Oct 10

Small bits of genetic material fight cancer's spread, ScienceNews, Oct 15

Our bodies, our data: New technologies have launched the life sciences into the age of big data. Biologists must now make sense of their windfall, by Emily Singer, Quanta Magazine, Oct 3

Our genomes are talking to us - are we good listeners? By Aaron Krol, Clinical Informatics News, Oct 8

Tools and Databases

numbers on a grid

GeneG Mobile Application (from Tel Aviv University) lets you browse your genome

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

Availability of an assay for detecting Mycobacterium tuberculosis, including rifampin-resistant strains, and considerations for its use — United States, 2013
MMWR Weekly October 18, 2013 / 62(41);821-824

Development of a reverse genetics system to generate recombinant Marburg virus derived from a bat isolate.
Albariño CG, Uebelhoer LS, Vincent JP, Khristova ML, Chakrabarti AK, McElroy A, Nichol ST, Towner JS. Virology. 2013 Nov;446(1-2):230-7.

Genetic variants within the MHC region are associated with immune responsiveness to childhood vaccinations.
Yucesoy B, Talzhanov Y, Johnson VJ, Wilson NW, Biagini RE, Wang W, Frye B, Weissman DN, Germolec DR, Luster MI, Barmada MM. Vaccine. 2013 Sep 26. pii: S0264-410X(13)01267-X.

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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