Genomics & Health Impact Update
The Office of Public Health Genomics (OPHG) provides updated and credible information on how genomic information and family health history can improve health and influence policy and practice. We highlight news and information on the use of genomic tests and other applications, including family health history, in clinical and public health practice and programs, along with relevant data, policy, and legislation. We hope the update is informative to practitioners, policy makers, consumers, and researchers. Please send your comments to: genetics@cdc.gov.
Thursday, September 29, 2011 Volume 27 Number 13
Spotlight

Blog post"Genomics in public health preparedness: Chance favors the prepared mind"
Announcements
- Health and Human Services Secretary adopts new recommendation on newborn screening [PDF 211.61 KB]
- PCORI Funding Announcement: Pilot Projects Grants
- New publication: Influence of Familial Risk on Diabetes Risk–Reducing Behaviors Among U.S. Adults Without Diabetes Chang MH, Valdez R, Ned RM, Liu T, Yang Q, Yesupriya A, Dowling NF, Meigs JB, Bowen MS, Khoury MJ. Diabetes Care. 2011 Sep 20.
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Million Hearts is a national initiative to prevent 1 million heart attacks and strokes over the next five years CDC Feature: Million Hearts: Preventing Heart Attacks and Strokes
- Heart disease and family history
- Learn more about the role of family history and how to collect it
- CDC podcast on familial hypercholesterolemia
- EGAPP recommendation on genomic profiling in risk assessment for heart disease
- Heart to Heart: Inherited cardiovascular conditions services
- Pathophysiology of Severe Familial Hypercholesterolemia: The Role of Apo B
Find out more about genomics and heart disease:
Topics
Genomic Tests
Clinical utility gene card for: Fabry disease
Gal A, et al. Eur J Hum Genet 2011 Sep
Clinical pharmacogenomic testing of KRAS, BRAF and EGFR mutations by high resolution melting analysis and ultra-deep pyrosequencing
Emma Borras , Ismael Jurado , Imma Hernan, et al. BMC Cancer 2011, 11:406
For more information on genomic applications in practice and prevention, please visit the GAPP Finder in the GAPP Knowledge Base and PLoS Currents Evidence on Genomic Tests.
Family Health History
How do women at increased, but unexplained, familial risk of breast cancer perceive and manage their risk? A qualitative interview study.
Keogh LA, McClaren BJ, Apicella C, et al. Hered Cancer Clin Pract. 2011 Sep 6;9(1):7.
Women with breast cancer with no genetic link, are not fully utilizing breast cancer services, EurekAlert, September 25
Practice and Programs
Interpreting and Applying CYP450 Genomic Test Results to Psychotropic Medications
Caley CF J Pharm Pract 2011 Sep
Permanence of the information given during oncogenetic counseling to persons at familial risk of breast/ovarian and/or colon cancer
Kwiatkowski F, et al. Eur J Hum Genet 2011 Sep
Who should have genetic testing for maturity-onset diabetes of the young? Medscape, September 22 [by free subscription only]
Policy and Legislation
Accountability, Governance and Biobanks: The Ethics and Governance Committee as Guardian or as Toothless Tiger?
McHale JV Health Care Anal 2011 Sep
NHGRI grantees study returning genomic research results to participants, Genome Web, September 26 [by free subscription only]
Health and Human Services Secretary adopts new recommendation on newborn screening, Genetic Alliance, September 22
Public Health Science
Somatic deletions of genes regulating MSH2 protein stability cause DNA mismatch repair deficiency and drug resistance in human leukemia cells
Barthelemy Diouf, Qing Cheng, Natalia F Krynetskaia, et al. Nature Medicine 2011 Sep 25
Newly identified DNA repair defect linked to increased risk of leukemia relapse, Medical News Today, September 27
Genomewide Association between GLCCI1 and Response to Glucocorticoid Therapy in Asthma
Tantisira K, Lasky-Su J, Harada M, et al. New England Journal of Medicine 2011 Sep 26
NIH-funded study connects gene variant to response to asthma drugs, NIH News, September 26
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
Papaemmanuil E, Cazzola M, Boultwood J, et al. New England Journal of Medicine, 2011
Researchers uncover gene associated with blood cancers; new genetic insights could facilitate screening for mutation, Science Daily, September 26
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function
Artigas M, Loth D, Wain L, et al. Nature Genetics 2011 Sept 25
New discoveries in genetics of lung health, EurekAlert, September 25
An Iron Regulatory Gene Signature Predicts Outcome in Breast Cancer.
Miller LD, Coffman LG, Chou JW, et al. Cancer Res. 2011 Aug 29.
Researchers identify new genes that determine breast cancer prognosis, Medical News Today, September 24
Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease. The IBC 50K CAD Consortium. PLoS Genetics, 2011
Five new genes that affect risk of developing coronary artery disease (CAD) and heart attacks discovered, Medical News Today, September 23
201 human genome epidemiology articles have recently been added, please visit the HuGE Literature Finder in the HuGE Navigator.
CDC-Authored Genomics Publications
CDC authors are indicated in bold
Influence of familial risk on diabetes risk-reducing behaviors among U.S. adults without diabetes
Chang MH, Valdez R, Ned RM, Liu T, Yang Q, Yesupriya A, Dowling NF, Meigs JB, Bowen MS, Khoury MJ. Diabetes Care. 2011 Sep 20.
Molecular identification and distribution of Cryptosporidium and Giardia duodenalis in raw urban wastewater in Harbin, China
Liu A, Ji H, Wang E, Liu J, Xiao L, Shen Y, Li Y, Zhang W, Ling H. Parasitol Res. 2011 Sep;109(3):913-8.
Prevalence of drug resistance-related polymorphisms in treatment-naive individuals infected with non-subtype B HIV-1 in Cameroon
Fonjungo PN, Youngpairoj AS, Alemnji GA, Eno LT, Lyonga EJ, Eloundou MA, Shanmugam V, Mpoudi-Ngole E, Kalish ML, Folks TM, Pieniazek D. AIDS Res Hum Retroviruses. 2011 Sep 18.
View previous CDC-authored publications
Let's Go Surfing
Seize the new: Laying the clinical genomics pipeline in Wisconsin, Bio It World, September 27
Genetic testing for breast and ovarian cancer, News-Medical.Net, September 26
UK's first brain tumour tissue bank established, PHG Foundation, September 26
Egyptian newborn screening laboratory is world's largest, PHG Foundation, September 25
Events and Training
US Conference on Rare Diseases and Orphan Products
2011 Newborn Screening and Genetic Testing Symposium
Predictive Genetic Testing, Risk Communication and Risk Perception
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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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