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: firstname.lastname@example.org.
Thursday, October 6, 2011 Volume 27 Number 14
October is National
- Hereditary Breast and Ovarian Cancer: BRCA and Your Patient, CDC Expert Commentary on Medscape
- Breast and Ovarian Cancer and Family History
- Quick Facts About Family Health History and Genetic Testing for Breast Cancer and Ovarian Cancer
- CDC Feature: Breast Cancer Awareness
- CDC Awards Programmatic Funding to Support Breast Cancer Genomics
- The EGAPP Working Group (EWG) will be adding at least 3 new members in 2011. Nominations for membership on the EWG are accepted on a continuous basis.
- Health and Human Services Secretary adopts new recommendation on newborn screening [PDF 211.61 KB]
- PCORI Funding Announcement: Pilot Projects Grants
This grant program will support development and enhancement of national research priorities for patient-centered outcomes research, preliminary data collection, and identification of methodologies that can be used to advance the field while identifying gaps in research. PCORI will award up to $13 million through this program in 2012.
The Patient-Centered Outcomes Research Institute — Promoting Better Information, Decisions, and Health
Washington A, Lipstein S; N Engl J Med. 2011 Oct 5
PCORI grants could encourage personalized medicine-focused CER, Genome Web, October 5
- Blog post "Genomics in public health preparedness: Chance favors the prepared mind"
- 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.
Effectiveness of testing for genetic susceptibility to smoking-related diseases on smoking cessation outcomes: a systematic review and meta-analysis
Smerecnik C, et al. Tob Control 2011 Sep
Breast and ovarian cancer: Y do we forget about dad?
McCuaig JM, Greenwood C, Shuman C, et al. Lancet Oncol. 2010 Dec;11(12):1115-7.
Genes of both parents affect risk of ovarian and breast cancer, Daily News Los Angeles, September 29
Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey
Palomaki GE & Richards CS Genet Med 2011 Sep
Essential nursing competencies for genetics and genomics: implications for critical care
Howington L, et al. Crit Care Nurse 2011 Oct;31(5):e1-7
Management of familial hypercholesterolemia in children and young adults: Consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization
Descamps OS, et al. Atherosclerosis 2011 Oct;218(2):272-80
Universal newborn screening for congenital heart disease in US, PHG Foundation, October 5
Primary Care: You DO need to know about genomics -- here's why, Medscape, October 4 [by free subscription only]
Testing for breast cancer mutations, not for everyone, Medical News Today, October 4
Breast cancer: Treatment is no longer one-size-fits-all, The Los Angeles Times, October 1
Kids in America- Newborn Screening for Cystic Fibrosis, Medscape, September 29 [by free subscription only]
CCMG Statement on Direct-to-Consumer Genetic Testing
Nelson TN, et al. Clin Genet 2011 Sep
Genomics, health care, and society
Hudson KL N Engl J Med 2011 Sep;365(11):1033-41
HHS wants to give patients test results straight from lab, Amednews.com, October 3
Genetics and Genomics to the Clinic: A Long Road ahead.
Ginsburg D. Cell. 2011 Sep 30;147(1):17-9.
Genomics reaches the clinic: from basic discoveries to clinical impact
Manolio TA & Green ED Cell 2011 Sep;147(1):14-6
How disease advocacy organizations participate in clinical research: A survey of genetic organizations
Landy DC, et al. Genet Med 2011 Sep
Incorporating personalized gene sequence variants, molecular genetics knowledge, and health knowledge into an EHR prototype based on the Continuity of Care Record standard
Jing X, et al. J Biomed Inform 2011 Sep
Mutations in BRIP1 confer high risk of ovarian cancer.
Rafnar T, Gudbjartsson DF, Sulem P, et al. Nat Genet. 2011 Oct 2.
DeCode-led team ids ovarian cancer risk gene, Genome Web, October 3
Impact of Direct-to-Consumer Predictive Genomic Testing on Risk Perception and Worry Among Patients Receiving Routine Care in a Preventive Health Clinic
James KM, Cowl CT, Tilburt JC, et al. Mayo Clin Proc. 2011 Oct;86(10):933-40.
Study gauges emotional toll of direct-to-consumer genetic testing, EurekAlert, October 3
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton AE, Majounie E, Waite A, et al. Neuron 2011 Sep 21.
Genetic cause of neurodegenerative disorders unraveled, PHG Foundation, September 30
Peroxisome Proliferator-Activated Receptor Pathway Gene Polymorphism Associated With Extent of Coronary Artery Disease in Patients With Type 2 Diabetes in the Bypass Angioplasty Revascularization Investigation 2 Diabetes Trial.
Cresci S, Wu J, Province MA, Circulation 2011 Sep 27;124(13):1426-1434.
Link between genetic variant and blocked heart arteries in patients with diabetes, Medical News Today, September 30
Clan genomics and the complex architecture of human disease.
Lupski JR, Belmont JW, Boerwinkle E, et al. Cell 2011 Sep 30;147(1):32-43.
Experts propose new unified genetic model for human disease, EurekAlert, September 29
CDC authors are indicated in bold
Development of DENVax: A chimeric dengue-2 PDK-53-based tetravalent vaccine for protection against dengue fever
Osorio JE, Huang CY, Kinney RM, Stinchcomb DT. Vaccine. 2011 Sep 23;29(42):7251-60.
DNA priming and influenza vaccine immunogenicity: two phase 1 open label randomized clinical trials.
Julie E Ledgerwood, Chih-Jen Wei, Zonghui Hu, Ingelise J Gordon, Mary E Enama, Cynthia S Hendel, Patrick M McTamney, Melissa B Pearce, Hadi M Yassine, Jeffrey C Boyington, Robert Bailer, Terrence M Tumpey, Richard A Koup, John R Mascola, Gary J Nabel, Barney S Graham, the VRC 306 Study Team. The Lancet Infectious Diseases 2011 Oct 4
Priming with DNA vaccine makes avian flu vaccine work better, NIH News, October 3
Evaluation of intra-host variants of the entire hepatitis B virus genome
Ramachandran S, Zhai X, Thai H, Campo DS, Xia G, Ganova-Raeva LM, Drobeniuc J, Khudyakov YE. PLoS One. 2011 ;6(9):e25232.
Joint associations between genetic variants and reproductive factors in glioma risk among women
Wang SS, Hartge P, Yeager M, Carreon T, Ruder AM, Linet M, Inskip PD, Black A, Hsing AW, Alavanja M, Beane-Freeman L, Safaiean M, Chanock SJ, Rajaraman P. Am J Epidemiol. 2011 Sep 13.
Down syndrome: national conference on patient registries, research databases, and biobanks
Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, Capone G, Collier E, Hall D, Kaeser L, Kaufmann P, Krischer J, Livingston M, McCabe LL, Pace J, Pfenninger K, Rasmussen SA, Reeves RH, Rubinstein Y, Sherman S, Terry SF, Siewhitten M, Williams S, McCabe ER, Maddox YT. Mol Genet Metab. 2011 Sep-Oct;104(1-2):13-22.
Genome sequences for five strains of the emerging pathogen Haemophilus haemolyticus
Jordan IK, Conley AB, Antonov IV, Arthur RA, Cook ED, Cooper GP, Jones BL, Knipe KM, Lee KJ, Liu X, Mitchell GJ, Pande PR, Petit RA, Qin S, Rajan VN, Sarda S, Sebastian A, Tang S, Thapliyal R, Varghese NJ, Ye T, Katz LS, Wang X, Rowe L, Frace M, Mayer LW. J Bacteriol. 2011 Oct;193(20):5879-80.
Next generation dengue vaccines: a review of candidates in preclinical development
Schmitz J, Roehrig J, Barrett A, Hombach J. Vaccine. 2011 Sep 23;29(42):7276-84.
A novel multi-target real-time PCR assay for the rapid diagnosis of Bordetella species in clinical specimens
Tatti KM, Sparks KN, Boney KO, Tondella ML. J Clin Microbiol. 2011 Sep 21.
South American Plasmodium falciparum after the malaria eradication era: clonal population expansion and survival of the fittest hybrids
Griffing SM, Mixson-Hayden T, Sridaran S, Alam MT, McCollum AM, Cabezas C, Marquino Quezada W, Barnwell JW, Macedo De Oliveira A, Lucas C, Arrospide N, Escalante AA, Bacon DJ, Udhayakumar V. PLoS One. 2011 ;6(9):e23486.
Structural gene (prME) chimeras of St. Louis encephalitis virus and West Nile virus exhibit altered in vitro cytopathic and growth phenotypes
Maharaj PD, Anishchenko M, Langevin SA, Fang Y, Reisen WK, Brault AC. J Gen Virol. 2011 Sep 21.
The National Institutes of Health Undiagnosed Diseases Program: Insights into rare diseases
Gahl WA, et al. Genet Med 2011 Sep
NIDDK offers $15M for Type 1 Diabetes genes studies, Genome Web, October 4 [by free subscription only]
Scripps and Complete Genomics to collaborate on genetic research study on healthy aging, EurekAlert, October 3
The Human Genome Project, then and now, The Scientist, October 1
World first as genome sequencing offered to entire Faroe islands, PHG Foundation, September 30
Blueprint for success in human epigenomics? PHG Foundation, September 29
2012 Consumer Task Force on Newborn Screening Request for Applications, Genetic Alliance, September 28
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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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