Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update includes CDC announcements, publications, blogs and other products. The Update also includes links to genomics and health impact news and publications. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science. To receive this update electronically every week sign-up here.
Wednesday, November 21, 2012 Volume 29 Number 21
Thanksgiving is Family Health History Day
- Happy Thanksgiving: Gather and share your family health history
- CDC Information: Your family health history is important for determining your own health risks. Learn how to document your family's health history
- CDC Blog: Family health history and the holidays: take time to collect, discuss, document, and share your family health history
- HHS Tool: Talking with your health care provider about your family health history can help you stay healthy! Surgeon General’s My Family Health Portrait
- CDC Feature: Your family's health history could be important for determining your child's health risks
- CDC family history research initiative: evaluation of personalized information for disease prevention and screening based on family history
- U.S. Surgeon General declares Thanksgiving as “Family Health History Day”, HHS, November 22
- Gather for a family health portrait this Thanksgiving, NHGRI, November 20
- Next generation sequencing: Standardization of clinical testing CDC working groups
- CDC working group guidelines: Assuring the quality of next generation sequencing in clinical practice
- Next-generation sequencing: Standardization of clinical testing (Nex-StoCT) workgroup principles and guidelines [PDF 490.80 KB]
- Diagnostic exome sequencing: are we there yet? New Engl J Med editorial Nov 15
- Review: The UCSC Genome Browser database: extensions and updates
- Review: Next-generation sequencing-based testing for cancer: Clinical use as a personalized diagnostic and prognostic tool?
- Review: Translating genomics to the clinic: implications of cancer heterogeneity
- Review: New opportunities from metabolomics in cancer diagnostics and therapeutics [PDF 814.02 KB]
- ENCODE: Deciphering function in the human genome NHGRI Genome Advance of the Month
- Matching DNA with medical records to crack disease & aging: Kaiser Permanente Northern California Biobank
- The Million Veteran Program: Building VA’s mega-database for genomic medicine
CDC Feature: Breast cancer disparities
- CDC Feature: Black women are 40% more likely to die of breast cancer than white women
- Underutilization of BRCA1/2 testing in breast cancer: black & hispanic women particularly at risk, Genet Med Study
- Looking to the future: incorporating genomic information into disparities research, Health Serv Res review
November is National Prematurity Awareness Month
- WHO: Preterm births are truly a global problem. Which are the most affected countries?
- March of Dimes: Which women are at greatest risk for premature birth?
- Each year, premature (preterm) birth affects nearly 500,000 babies—that's 1 of every 8 infants born in the United States
- CDC Feature: A risk factor for premature birth is having a previous premature birth
- Genetic and environmental factors both play a role in increasing the risk of prematurity
November is National Diabetes Month
- Presidential Proclamation -- National Diabetes Month, 2012
- Healthy habits can help prevent type 2 diabetes. Learn more by watching this video
- National Diabetes Education Program: If you have diabetes, 5 questions to ask healthcare team: Question #3 Are my children at risk?
- CDC Feature: Check Your Risk for Developing Type 2 Diabetes
- Increasing prevalence of diagnosed diabetes - United States and Puerto Rico, 1995-2010
MMWR Morb Mortal Wkly Rep. 2012 Nov 16;61(45):918-921.
National Alzheimer’s Disease Awareness Month
- All about Alzheimer’s, PLoS Blog, November 9
- CDC Feature: Alzheimer’s disease
- Alzheimer’s disease has both genetic and environmental risk factors, Alzheimer’s Association
- The genetics of Alzheimer's disease.
Bertram L, Tanzi RE. Prog Mol Biol Transl Sci. 2012;107:79-100.
- Check out genes associated with Alzheimer’s disease via HuGE Navigator and GWAS Integrator
- Discovery of molecular pathway of Alzheimer's disease reveals new drug targets, Wellcome Trust, November 21
Designs and challenges for personalized medicine studies in oncology: focus on the SHIVA trial
Le Tourneau C, et al. Target Oncol 2012 Nov
Genetic risk assessments in individuals at high risk for inherited breast cancer in the breast oncology care setting.
Pal T, Vadaparampil ST. Cancer Control. 2012 Oct;19(4):255-66.
The genetic landscape of mutations in Burkitt lymphoma.
Love C, Sun Z, Jima D, et al. Nat Genet. 2012 Nov 11
- Genome sequencing of Burkitt Lymphoma reveals unique mutation, Medical News Today, November 15
Patterns of cancer genetic testing: a randomized survey of Oregon clinicians
Cox SL, et al. J Cancer Epidemiol 2012;2012:294730
The introduction of systematic genomic testing for patients with non-small-cell lung cancer.
Cardarella S, Ortiz TM, Joshi VA, et al. J Thorac Oncol. 2012 Dec;7(12):1767-1774.
- Large-scale genomic testing feasible, impacts therapy according to study, Medical News Today, November 19
Risk of cardiovascular disease in family members of young sudden cardiac death victims
Ranthe MF, Winkel BG, Andersen EW, et al. Eur Heart J. 2012 Nov 13.
- Study shows importance of genetic screening, Medical News Today, November 14
Genomics in Practice
Barriers and facilitators for utilization of genetic counseling and risk assessment services in young female breast cancer survivors
Anderson B, et al. J Cancer Epidemiol 2012;2012:298745
Experiences of early users of direct-to-consumer genomics in Switzerland: An exploratory study
Vayena E, et al. Public Health Genomics 2012 Nov:352-62
Ethical dilemmas associated with genetic testing: which are most commonly seen and how are they managed?
McLean N, et al. Genet Med 2012 Nov
Genomic Test Evaluation
HLA genotype and carbamazepine-induced cutaneous adverse drug reactions: A systematic review
V L Yip, A G Marson, A L Jorgensen, et al. Clinical Pharmacology & Therapeutics (2012); 92 6, 757–765
- Noninvasive prenatal testing for fetal aneuploidy opinion from the American College of Obstetricians and Gynecologists Committee on Genetics, December, 2012
Public Health Sciences
The association of AGT2R polymorphisms with preeclampsia and uterine artery bilateral notching is modulated by maternal BMI.
Zhou A, Dekker GA, Lumbers ER, et al. Placenta. 2012 Nov 1
- Serious pregnancy complication may be in the genes, Medical News Today, November 19
TREM2 variants in Alzheimer's disease.
Guerreiro R, Wojtas A, Bras J, et al. N Engl J Med. 2012 Nov 14.
- A new factor of genetic susceptibility to Alzheimer's disease, EurekAlert, November 19
- Copy-number disorders are a common cause of congenital kidney malformations
Simone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E. Burgess, et al. 2012 American Journal of Human Genetics
- Surprising genetic link between kidney defects and neurodevelopmental disorders in kids, Science Daily, November 15
Whole Genome Sequencing
Whole-genome sequencing to delineate Mycobacterium tuberculosis outbreaks: a retrospective observational study
Timothy M Walker, Camilla LC Ip, Ruth H Harrell, et al. The Lancet Infectious Diseases 2012
- TB's genetic 'family tree' holds the key to tackling outbreaks quickly and effectively, Wellcome Trust Sanger Institute, November 16
- Whole-genome sequencing for analysis of an outbreak of methicillin-resistant Staphylococcus aureus: a descriptive study
Simon R Harris, Edward JP Cartwright, et al.The Lancet Infectious Diseases 2012 Nov 14
- Genomic testing helps ID MRSA outbreak, Clinical Advisor, November 15
- Investigation of disease outbreaks with genome sequencing, Commentary Lancet
CDC authors are indicated in bold
Using routinely reported tuberculosis genotyping and surveillance data to predict tuberculosis outbreaks
Althomsons SP, Kammerer JS, Shang N, Navin TR. PLoS One. 2012 ;7(11):e48754.
Health care needs of children with Tourette syndrome
Bitsko RH, Danielson M, King M, Visser SN, Scahill L, Perou R. J Child Neurol. 2012 Nov 8.
Assuring the quality of next-generation sequencing in clinical laboratory practice
Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenmuller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM. Nat Biotechnol. 2012 Nov;30(11):1033-6.
Epidemiology of Enterocytozoon bieneusi infection in humans
Matos O, Lobo ML, Xiao L. J Parasitol Res. 2012 ;2012:981424.
Known glioma risk loci are associated with glioma with a family history of brain tumours - a case-control gene association study
Melin B, Dahlin AM, Andersson U, Wang Z, Henriksson R, Hallmans G, Bondy ML, Johansen C, Feychting M, Ahlbom A, Kitahara CM, Wang SS, Ruder AM, Carreon T, Butler MA, Inskip PD, Purdue M, Hsing AW, Mechanic L, Gillanders E, Yeager M, Linet M, Chanock SJ, Hartge P, Rajaraman P. Int J Cancer. 2012 Nov 1.
Genome-wide association study of glioma and meta-analysis
Rajaraman P, Melin BS, Wang Z, McKean-Cowdin R, Michaud DS, Wang SS, Bondy M, Houlston R, Jenkins RB, Wrensch M, Yeager M, Ahlbom A, Albanes D, Andersson U, Freeman LE, Buring JE, Butler MA, Braganza M, Carreon T, Feychting M, Fleming SJ, Gapstur SM, Gaziano JM, Giles GG, Hallmans G, Henriksson R, Hoffman-Bolton J, Inskip PD, Johansen C, Kitahara CM, Lathrop M, Liu C, Le Marchand L, Linet MS, Lonn S, Peters U, Purdue MP, Rothman N, Ruder AM, Sanson M, Sesso HD, Severi G, Shu XO, Simon M, Stampfer M, Stevens VL, Visvanathan K, White E, Wolk A, Zeleniuch-Jacquotte A, Zheng W, Decker P, Enciso-Mora V, Fridley B, Gao YT, Kosel M, Lachance DH, Lau C, Rice T, Swerdlow A, Wiemels JL, Wiencke JK, Shete S, Xiang YB, Xiao Y, Hoover RN, Fraumeni JF, Chatterjee N, Hartge P, Chanock SJ. Hum Genet. 2012 Dec;131(12):1877-88.
Chronic beryllium disease, HLA-DPB1, and the DP peptide binding groove
Silveira LJ, McCanlies EC, Fingerlin TE, Van Dyke MV, Mroz MM, Strand M, Fontenot AP, Bowerman N, Dabelea DM, Schuler CR, Weston A, Maier LA. J Immunol. 2012 Oct 15;189(8):4014-23
The genetic match between vaccine strains and circulating seasonal influenza A viruses in Vietnam, 2001-2009
Vuong CD, Hoang PM, Nguyen HL, Nguyen HT, Nguyen TC, Le TT, Dennis DT, Kapella BK, Kile JC, Le MQ. Influenza Other Respi Viruses. 2012 Nov 8.
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