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Genomics & Health Impact Update

Volume 30   Number 25   June 20 - June 27, 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

More on the Supreme Court Ruling: Gene Patents and BRCA Testing

US Supreme Court

Statement by NIH Director about Supreme Court ruling on gene patents, Jun 13

Supreme Court ruling [PDF 146.91 KB]

Looking back at Myriad: A user’s guide, Genomic Law Report, Jun 19

Myriad ruling causes confusion, Nature News, Jun 18

Myriad, finally: Supreme Court surprises by not surprising, Genomics Law Report, Jun 18

The global alliance wants your genome data - why that's a good thing, Mark Wanner, Jackson Lab, Jun 17  

I discovered the BRCA genes and I am delighted the Supreme Court ruled they cannot be patented, by Sara Reardon, Jun 15

7 takeaways from Supreme Court's gene patent decision, National Geographic, Jun 14

Gene patents invalid: final decision from Supreme Court, by Dr Philippa Brice, PHG Foundation, Jun 14

AMA welcomes an end to human gene patents, AMA, Jun 13

Clarity on patenting nature, New York Times editorial, Jun 13

International initiative applauds the Supreme Court decision eliminating gene patents and announces the launch of a public database for hereditary gene mutations, Marketwire, Jun 13

Family History: Why is it Important to your Health?

a mother, father, daughter and son

CDC information: Why is family history important to your health?

Collect your family health history and share it with your provider: a tool from the US Surgeon General

CDC family history clinical trial evaluation

CDC paper: Cancer genetics toolkit improves access to genetic services using family history in primary care,
Scheuner M et al, Genetics in Medicine Jun 13

Personalizing prenatal care using family health history: a new March of Dimes electronic screening tool, Bruce K Lin, Emily Edelman, Joseph D McInerney,et al. Personalized Medicine May 2013, Vol. 10, No. 3, Pages 307-318

Development & evaluation of a family history screening tool for common chronic disease prevention in primary care.
Walter FM, Prevost AT, Birt L et al. Br J Gen Pract. 2013 Jun;63(611):393-400.

Impact of Genomics on Economy and Health

doctor holding piggy bank

The Impact of genomics on the U.S. economy: United for Medical Research 2013 report

Billion dollar impact of the Human Genome Project? PHG Foundation, Jun 13

Eyebrows cocked at genomics impact numbers, Genomeweb Daily, June 13

Genomic Medicine: A decade of successes, challenges, and opportunities
McCarthy J et al. Sci Trans Med Jun 2013

CDC harnesses technology to protect people and save lives, by Carlos Dominguez, The Hill Congress Blog, Jun 11

CDC blog post: Walking before running: Genomic medicine 10 years after the human genome project

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Diseases of the Week

Sickle Cell Disease

Sickle Cell

United Nations: 3rd World Sickle Cell Day on June 19th

CDC information on sickle cell disease

CDC podcast: A century of sickle cell

CDC information: Sickle cell disease quiz- test your knowledge

Reducing the burden of sickle cell disease, NIH

Wellcome image of the month: Sickle cell disease, Wellcome Trust, Jun 19

CDC paper: Sickle cell disease in Africa: a neglected cause of early childhood mortality.
Grosse SD, Odame I, Atrash HK, et al. Am J Prev Med. 2011 Dec;41(6 Suppl 4):S398-405.

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Select Events

conference room

Genome exhibit opens at Smithsonian, Blog post by Dr. Francis Collins, June 13th, 2013

IOM Roundtable: Genomics-Enabled Drug Repurposing and Repositioning: A Workshop, [PDF 149.43 KB] June 24

Fifth annual consumer genomics conference, Sept 25-27, Boston, MA

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

Sixth International Conference on Birth Defects and Disabilities in the Developing World, Nov 10-13, Cebu, Philippines

5th Pan Arab Human Genetics Conference and the Golden Helix Symposium 2013, with the theme “Genomics Into Healthcare”, November 17-19, 2013. Dubai, UAE

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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


Breast cancer index identifies early stage ER+ breast cancer patients at risk for early and late distant recurrence
Zhang Y, et al. Clin Cancer Res 2013 Jun

Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria

Singer CF, et al. Clin Genet 2013 Jun

Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention.
Lu KH, et al. Fam Cancer. 2013 Jun 14

Improving identification of Lynch syndrome patients: a comparison of research data with clinical records
Tan YY, et al. Int J Cancer 2013 Jun;132(12):2876-83

Mutational heterogeneity in cancer and the search for new cancer-associated genes.
Michael S. Lawrence et al. Nature, Jun 16

Prognostic utility of cell cycle progression score in men with prostate cancer after primary external beam radiation therapy
Freedland SJ, et al. Int J Radiat Oncol Biol Phys 2013 Jun

Selective estrogen receptor modulators and pharmacogenomic variation in ZNF423 regulation of BRCA1 expression: Individualized breast cancer prevention
James N. Ingle, Mohan Liu, D. Lawrence Wickerham Cancer Discovery 2013 Jun 17

Identifying women most likely to respond to preventive breast cancer therapy, Medical News Today, Jun 17

Towards a vaccine to prevent cancer in Lynch syndrome patients.
von Knebel Doeberitz M,et al. Fam Cancer. 2013 Jun 13

Toward standard HER2 testing of endometrial serous carcinoma: 4-year experience at a large academic center and recommendations for clinical practice
Buza N, et al. Mod Pathol 2013 Jun

Genetic variants could help direct breast cancer prevention therapy, by Rebecca Voelker, JAMA News, Jun 13

Ethics, Policy and Law

Genetic data and electronic health records: a discussion of ethical, logistical and technological considerations
Shoenbill K, et al. J Am Med Inform Assoc 2013 Jun

Poking holes in genetic privacy,  by Gina Kolata, New York Times, Jun 16

Family History

Using multiple methods to characterize the phenotype of individuals with a family history of major depressive disorder
Watters AJ, et al. J Affect Disord 2013 Jun

Genomic Tests

A comprehensive assay for CFTR mutational analysis using next-generation sequencing
Ahmad N. Abou Tayoun et al. Clin Chemistry, May 2013

Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2)
Mayer K, et al. Eur J Hum Genet 2013 Jun

Clinical utility of KRAS and BRAF mutations in a cohort of patients with colorectal neoplasms submitted for microsatellite instability testing
Cushman-Vokoun AM, et al. Clin Colorectal Cancer 2013 Jun

Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders
Gary Stobbe et al. Genetics in Medicine, Jun 13

Next-generation carrier screening
Mark A. Umbarger et al. Genetics in Medicine Jun 13

Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF 275.11 KB]
Alison M Meynert et al. BMC Bioinformatics 2013, 14:195

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study
Wei X, et al. Eur J Hum Genet 2013 Jun

Guidelines and Recommendations

ACMG standards and guidelines for fragile X testing: a revision to the disease-specific supplements to the standards and guidelines for clinical genetics laboratories of the American College of Medical Genetics and Genomics
Kristin G. Monaghan et al. Genetics in Medicine, Jun 13

AHRQ Evidence Report: Oral Contraceptive Use for the Primary Prevention of Ovarian Cancer[PDF 6.85 MB] Insufficient evidence on oral contraceptive use solely for prevention of ovarian cancer, including for women with BRCA mutations/family history

Best practice guidelines for the use of Next Generation Sequencing (NGS) Applications in genome diagnostics: A national collaborative study of Dutch Genome Diagnostic Laboratories
Weiss MM, et al. Hum Mutat 2013 Jun

Newborn Screening

Establishment and development of a national newborn screening programme for congenital hypothyroidism in Turkey
Dilli D, et al. J Clin Res Pediatr Endocrinol 2013 Jun;5(2):73-9


Pharmacogenetic testing in the UK clinical setting
Bartlett MJ, et al. Lancet 2013 Jun;381(9881):1903

Prenatal Screening

Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study
Qi QW, et al. Chin Med J (Engl) 2013 Jun;126(11):2007-10

Knowledge, attitudes and decision-making in Czech women with atypical results of prenatal screening tests for the most common chromosomal and morphological congenital defects in the fetus: Selected questionnaire results
Skutilova V Biomed Pap Med Fac Univ Palacky Olomouc Czech  2013 Jun

Public Health Sciences

Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records
McDavid A, et al. PLoS One 2013;8(6):e63481

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study
Perera MA, et al. Lancet 2013 Jun

Genome-wide comparison of medieval and modern Mycobacterium leprae
Verena J. Schuenemann et al. Science, Jun 17

Mechanistic Evidence in Evidence-Based Medicine: A Conceptual Framework
Goodman SN, Gerson J. Research White Paper June 13

Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.
the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium, Morrison AC, Voorman A, et al. Nat Genet. 2013 Jun 16.

Whole genome sequence gives shape to picture of human traits, BCM, Jun 17

Reviews and Commentaries on Science & Technology

Pitfalls of predicting complex traits from SNPs
Naomi R. Wray, Jian Yang, Ben J. Hayes, et al. Nature Reviews Genetics 14,507–515 2013 Jun 18

Nature Reviews Genetics Translational Genetics Series: Articles document the many ways in which genetic knowledge is changing medical practice

PLOS Pathogens: Should the human microbiome be considered when developing vaccines?

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CDC-Authored Genomics Publications


CDC authors are indicated in bold

Prevalence and genetic diversity of norovirus among patients with acute diarrhea in Guatemala
Estevez A, Arvelo W, Hall AJ, Lopez MR, Lopez B, Reyes L, Moir JC, Gregoricus N, Vinje J, Parashar UD, Lindblade KA. J Med Virol. 2013 Apr 17.

Isolation and full genomic characterization of Batai virus from mosquitoes, Italy 2009
Huhtamo E, Lambert AJ, Costantino S, Servino L, Krizmancic L, Boldorini R, Allegrini S, Grasso I, Korhonen EM, Vapalahti O, Lanciotti RS, Ravanini P. J Gen Virol. 2013 Jun;94(Pt 6):1242-8.

The geometric increase in meta-analyses from China in the genomic era
Ioannidis JP, Chang CQ, Lam TK, Schully SD, Khoury MJ. PLoS One. 2013 Jun 12;8(6):e65602.

Telomere length and elevated iron: the influence of phenotype and HFE genotype
Mainous AG, Wright RU, Hulihan MM, Twal WO, McLaren CE, Diaz VA, McLaren GD, Argraves WS, Grant AM. Am J Hematol. 2013 Jun;88(6):492-6.

A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians
Maren T. Scheuner, Alison B. Hamilton, Jane Peredo, Taylor J. Sale, Colletta Austin, Stuart C. Gilman, M. Scott Bowen, Caroline Lubick Goldzweig, Martin Lee, Brian S. Mittman & Elizabeth M. Yano. Genetics in Medicine, June 13

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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