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Genomics & Health Weekly Update

This weekly update provides information about the impact of human genomic research on disease prevention & population health. Learn more about the Genomics & Health Weekly Update.

Thursday, February 24, 2011       Volume 26   Number 8


old woman and young man

February is Heart Month

Heart disease is the leading cause of death and a major cause of disability in the United States. More than 600,000 Americans die of heart disease annually. Having close biological relatives with heart disease can increase your risk of developing this disease. Family health history offers important information to help you and your family members understand health risks and prevent disease. Learn more.



  • Special February issue of Genetics in Medicine celebrates the founding of the American College of Medical Genetics twenty years ago this month. This issue features a look back, a glimpse of the present, and commentaries that describe contrasting futures for medical genetics, as well as a world-wide collaboration on newborn screening of metabolic disorders. 
  • New publication of interest published in special issue of Genetics in Medicine, February 2011: Public health genomics: The end of the beginning. Author: Khoury MJ.
  • NIH will celebrate the Fourth Annual Rare Disease Day on February 28th, with a day-long celebration co-sponsored by NIH’s Office of Rare Diseases Research and the Clinical Center. Learn more and register.

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Genomics In The News

  • The following are headlines from on-line news articles published during the past week.
  • The headlines and lead sentence are exactly as they appear in the popular press & do not necessarily reflect the opinions or recommendations of CDC.
  • Free registration required for some articles.

Blood Disorders

FDA approves product to prevent bleeding in people with rare genetic defect, Medical News Today, February 18


New technology pinpoints genetic differences between cancer, non-cancer patients, Medical News Today, February 23

Government of Canada boosts efforts to find treatments for pediatric cancers and rare genetic diseases, Marketwire, February 22

Gene test for prostate cancer in the works, Medical News Today, February 17

Cardiovascular Disease

Gene mutation linked to high blood pressure, Ivanhoe, February 18

Chronic Disease

University team's genetic breakthrough in kidney research, Bristol, February 19

Family History

Cancer Center of Santa Barbara offers genetic counseling services, The Santa Barbara Independent, February 22

Family health history is important screening tool, Medical News Today, February 23

Genetic Testing

Genetic testing should be conducted by qualified health professionals, The Medical News, February 23

Entire T-cell receptor repertoire sequenced revealing extensive and unshared diversity, Eurekalert, February 23

Home genetic testing, CBC News, February 21

Program gives women whose genetic testing shows high risk for cancer…,, February 20

Infectious Disease

Researchers use genomics to investigate TB outbreak, EurekAlert, February 23

Vaccine made with synthetic gene protects against deadly pneumonia, Medical News Today, February 22

Reverse genetics allow scientists to slow the spread of the Rubella virus, Medical News Today, February 18

Maternal and Child Health

Metastatic childhood cancers investigated via new genomics research, Medical News Today, February 23

CHEO launches new genetics study, CBCNews, February 22

Mental Health

Schizophrenia gene mutation found; Target for new drugs, Science Daily, February 23

A new clue to the genetics of bipolar disorder: Piccolo,, February 23

Neurologic Conditions

An EU-wide study has found five new genetic variants for Parkinson's disease,, February 21

Genetic treatment for epilepsy unlikely, The Hindu, February 20

Personalized Medicine

Trial shows cystic fibrosis drug helped ease breathing, New York Times, February 23

Smoking, Tobacco and Alcohol

Study shows alcohol intoxication, driving intention linked to genes, PRNewswire, February 23


International study shows that reprogramming cells leads to genomic aberrations, Medical News Today, February 22

Wellcome Trust reviews progress in human genetics, PHG Foundation, February 21

Promise of genomics research needs a realistic view, Medical News Today, February 18

Rare Disease Day at NIH presents latest research from various agencies and advocacy groups, NIH News, February 17

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Genomics in the Scientific Literature

Birth Defects

Cleft lip and palate: understanding genetic and environmental influences
Dixon MJ, et al.
Nat Rev Genet 2011 Mar;12(3):167-78

Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005
Hartman RJ, et al.
Am J Med Genet A 2011 Feb


A novel network model identified a 13-gene lung cancer prognostic signature
Guo NL, et al.
Int J Comput Biol Drug Des 2011;4(1):19-39

Identification of SNPs associated with susceptibility for development of adverse reactions to radiotherapy
Rosenstein BS
Pharmacogenomics 2011 Feb;12(2):267-75

New insights into the prevention and treatment of familial breast cancer
Euhus DM
J Surg Oncol 2011 Mar;103(4):294-8

Pathology of hereditary breast cancer
van der Groep P, et al.
Cell Oncol (Dordr) 2011 Feb

Polymorphisms of Tumor Necrosis Factor-Alpha and Hepatocellular Carcinoma Risk: A HuGE Systematic Review and Meta-Analysis
Wei Y, et al.
Dig Dis Sci 2011 Feb

Chronic Disease

The Role of Genetics in IBS
Saito YA
Gastroenterol Clin North Am 2011 Mar;40(1):45-67

Environmental and Occupational Health

Genetics of occupational asthma
Bernstein DI
Curr Opin Allergy Clin Immunol 2011 Feb

Ethical, Legal, and Social Issues (ELSI)

Ethical issues in developing pharmacogenetic research partnerships with american  indigenous communities
Boyer BB, et al.
Clin Pharmacol Ther 2011 Mar;89(3):343-5

Genetic Testing

A New Method for FMR1 Gene Methylation Screening by Multiplex Methylation-Specific Real-Time Polymerase Chain Reaction
Elias MH, et al.
Genet Test Mol Biomarkers 2011 Feb

Familial Hyperparathyroidism Due to a Germline Mutation of the CDC73 gene: Implications for Management and Age-Appropriate Testing of Relatives at Risk
Pichardo-Lowden AR, et al.
Endocr Pract 2011 Feb:1-20

Lynch Syndrome and MYH-Associated Polyposis: Review and Testing Strategy
Goodenberger M & Lindor NM
J Clin Gastroenterol 2011 Feb

Reflex testing of resected stage I through III lung adenocarcinomas for EGFR and  KRAS mutation: report on initial experience and clinical utility at a single center
D'Angelo SP, et al.
J Thorac Cardiovasc Surg 2011 Feb;141(2):476-80

Infectious Disease

Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases
Qu HQ, et al.
Int J Infect Dis 2011 Feb

Mental Health

Genomics for disease treatment and prevention
Bloss CS, et al.
Psychiatr Clin North Am 2011 Mar;34(1):147-66


Pharmacogenomics: "noninferiority" is sufficient for initial implementation
Altman RB
Clin Pharmacol Ther 2011 Mar;89(3):348-50

Phase II study of S-1 combined with oxaliplatin as therapy for patients with metastatic biliary tract cancer: influence of the CYP2A6 polymorphism on pharmacokinetics and clinical activity
Kim KP, et al.
Br J Cancer 2011 Feb;104(4):605-12

Physician barriers to incorporating pharmacogenetic treatment strategies for nicotine dependence into clinical practice
Schnoll RA & Shields AE
Clin Pharmacol Ther 2011 Mar;89(3):345-7

Smoking, Tobacco and Alcohol

Genetic vulnerability and susceptibility to substance dependence
Bierut LJ
Neuron 2011 Feb;69(4):618-27

Pharmacogenetics of Smoking Cessation in General Practice: Results From the Patch II and Patch in Practice Trials
David SP, et al.
Nicotine Tob Res 2011 Jan


Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives
Houwink IJ, et al.
BMC Fam Pract 2011 Feb;12(1):5

Parents' and children's communication about genetic risk: a qualitative study, learning from families' experiences
Metcalfe A, et al.
Eur J Hum Genet 2011 Feb


For this week's human genome epidemiology articles, please visit the HuGE Navigator.


For the most recent information on genomic applications in practice and prevention, please visit the GAPP Knowledge Base.

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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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