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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, January 13, 2011       Volume 26   Number 2


microscopic view of blood

New EGAPP™ Recommendation on Genetic Testing for Idiopathic Venous Thromboembolism

This month the independent Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group has released a new evidence-based recommendation on commonly-used genetic tests for Factor V Leiden (FVL) and prothrombin (PT) mutations for idiopathic venous thromboembolism (VTE). VTE includes deep vein thrombosis or pulmonary embolism. In this recommendation, idiopathic VTE refers to thrombotic events in which no underlying cause is apparent. The EGAPP Working Group found enough evidence to recommend against routine testing for FVL and PT gene variants in the following specific scenarios: adults with thrombotic events in which no underlying cause is apparent, and in their adult family members with no history or symptoms of thrombotic events, for medical decision making on preventive use of anticoagulants. Access the EGAPP recommendation. Read more about the EGAPP recommendation.   


  • The next meeting of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children of the U.S. Department of Health and Human Services will be held on January 27-28, in Washington, DC. Members of the public may submit comments by January 25 to 202-785-3083 (fax) or
  • Applications are now being accepted for the Advocates Partnership Program, which is offered by the Genetic Alliance and American College of Medical Genetics (ACMG). Participants will attend the ACMG Annual Clinical Genetics Meeting on March 16-20, in Vancouver, and will engage with Genetic Alliance staff, ACMG leadership, and genetics professionals in intimate, collaborative forums throughout the meeting. Learn more about the program and apply. Application deadline: February 4.
  • Call for abstracts is now open for the 2011 American Public Health Association conference in Washington, DC.  Submit an abstract to the Genomics Forum. Deadline: February 9.

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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.


Cancer can develop in catastrophic burst, The New York Times, January 11

Brain-tumor development promoted by loss of gene, leading to reduced survival, Medical News Today, January 8

Patients are focus of new cancer care plan,, January 8

MicroRNA-TP53 circuit connected to chronic lymphocytic leukemia, Medical News Today, January 8

Punctuated evolution in cancer genomes, EurekAlert, January 6

Cardiovascular Disease

Genetic loci associated with abnormal heart rhythms, PHG Foundation, January 7

Ethical, Legal, and Social Issues (ELSI)

NEJM releases findings about behavioral impact of personal genetic testing, News-Medical.Net, January 13

New law prohibits genetic screening for jobs, MSNBC, January 12

Post-GINA, consumers still worry about genetic privacy, Genome Web, January 10 [by free subscription only]

Letting family members know about genetic conditions; how and when, Bio News, January 10

Exploring the genetic jungle can be fraught with danger, The Syndey Morning Herald, January 8

Genetic Testing

First genetic test for predicting IVF success, Medical News Today, January 13

Consumer genetic tests have little impact, Technology Review, January 12

Genetic tests: No anxiety, no gain, Los Angeles Times, January 12

Gene test finds disease risk in parents, Yahoo News, January 12

Researchers create 'scoring system' for PTEN mutation testing, EurekAlert. January 10

Researchers develop prenatal genetics test, CBS Pittsburgh, January 9

Utah company wants to expand use of genetic test for autism, The Salt Lake Tribune, January 9

Vanderbilt genetic test cuts risk of drug reactions,, January 9

Test lets genome out of the bottle, The Sydney Morning Herald, January 8

Most consumers want predictive tests to learn if a disease is in their future, EurekAlert, January 7

Neurologic Conditions

New hope in fight against Huntington's disease, Medical News Today, January 11

Progress in non-invasive testing for Down's Syndrome, PHG Foundation, January 10

On autism's cause, researchers just 'scratching the surface', CNN Health, January 6

Personalized Medicine

Cleveland Clinic to open personalized medicine center, Med City News, January 10


New user-friendly resource connects human genes to biological functions, Medical News Today, January 12

5AM Solutions releases SNPTips personal genomics web browser extension, San Francisco Chronicle, January 11

Nanodisk gene therapy, EurekAlert, January 11

NHGRI seeks genomics community resources, Genome Web, January 7 [by free subscription only]

Extracting cellular 'engines' may aid in understanding mitochondrial diseases, Science Daily, January 6

Genes of an 18th century 'giant' could change the lives of 21st century patients, Physorg,com, January 6

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Genomics in the Scientific Literature


A Primer on a Hepatocellular Carcinoma Bioresource Bank Using the Cancer Genome Atlas Guidelines: Practical Issues and Pitfalls
Nguyen NT, et al.
World J Surg 2011 Jan

X-Ray Repair Cross-Complementing Group 1 (XRCC1) Genetic Polymorphisms and Gastric Cancer Risk: A HuGE Review and Meta-Analysis
Xue H, et al.
Am J Epidemiol 2011 Jan

Chronic Disease

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes
Sharma S, et al.
Hum Mol Genet 2011 Jan


Dorothy Hodgkin Lecture 2010. From hype to hope? A journey through the genetics  of Type 2 diabetes
McCarthy MI
Diabet Med 2011 Feb;28(2):132-40


Colorectal Cancer Epigenetics: Complex Simplicity
van Engeland M, et al.
J Clin Oncol 2011 Jan

Family History

Familial aggregation of dementia with lewy bodies
Nervi A, et al.
Arch Neurol 2011 Jan;68(1):90-3

Genetic Testing

Comparison of the prognostic and predictive utilities of the 21-gene Recurrence Score assay and Adjuvant for women with node-negative, ER-positive breast cancer: results from NSABP B-14 and NSABP B-20
Tang G, et al.
Breast Cancer Res Treat 2011 Jan

Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk
Bloss CS, et al.
NEJM 2011 Jan

Infectious Disease

The Search for Host Genetic Factors of HIV/AIDS Pathogenesis in the Post-Genome Era: Progress to Date and New Avenues for Discovery
Aouizerat BE, et al.
Curr HIV/AIDS Rep 2011 Jan

Maternal and Child Health

Cardiac ion channel mutations in the sudden infant death syndrome
Klaver EC, et al.
Int J Cardiol 2011 Jan

Neurologic Conditions

Blinders, phenotype, and fashionable genetic analysis: A critical examination of  the current state of epilepsy genetic studies
Greenberg DA & Subaran R
Epilepsia 2011 Jan;52(1):1-9

Newborn Screening

Parental Understanding of Newborn Screening for Cystic Fibrosis After a Negative  Sweat-Test
Lang CW, et al.
Pediatrics 2011 Jan

Personalized Medicine

The Promise of a Personalized Genomic Approach to Pancreatic Cancer and Why Targeted Therapies Have Missed the Mark
Fisher WE
World J Surg 2011 Jan


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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