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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 20, 2011       Volume 26   Number 3


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.   


  • CDC’s National Center on Birth Defects and Developmental Disabilities announces a new Pediatric Genetics Web site, which contains easy-to-read information on genetic disorders, family health history, genetic counseling, and newborn screening and an individualized page for health professionals.
  • 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 scientists discover genetic diversity in leukemic propagating cells, Medical News Today, January 20

Kidney cancer: Same gene mutation in one third of common cases, Medical News Today, January 20

'Patchwork' of gene faults could help predict cervical cancer drug success, Medical News Today, January 20

Cardiovascular Disease

Kidney gene implicated in increased heart failure risk, EurekAlert, January 17

Certain genetic profiles increase risk of CAD, others increase risk of heart attacks in those with coronary disease; blood group o offers protection, Medical News Today, January 15

Ethical, Legal, and Social Issues (ELSI)

Report supports embryo genetic tests in Germany, Scientific American, January 18

Heavy doses of DNA data, with few side effects, The New York Times, January 17

Texas survey finds doctors favor costly genetic tests,, January 14

Study: Consumers not fazed by DNA health results, The Onaz, January 13

Genetic Testing

Routine genetic testing for thrombophilia unnecessary, PHG Foundation, January 20

Gene test might predict colon cancer's return, Yahoo News, January 19

New test finds 580 fatal diseases before conception, ABC News, January 18

New pre-conception carrier screening for genetic diseases, PHG Foundation, January 18

Direct-to-consumer genetic testing debate, NBC Washington, January 17

AHRQ identifies dozens of new genetic tests, Internal Medicine News, January 14

New genetic test screens would-be parents, NPR, January 13

Neurologic Conditions

Evidence for non-invasive Down's syndrome screening, PHG Foundation, January 14

UBC-VCH researchers find critical link between Down syndrome and Alzheimer's disease, Medical News Today, January 14

Newborn Screening

New method will triple amount of genetic information from newborn blood spot screenings, Medical News Today, January 14

Screening on infants increased, The Gulf Today, January 14

Personalized Medicine

New England Journal of medicine publishes initial data on study examining impact of personal genomics, Medical News Today, January 14

Smoking, Tobacco and Alcohol

Gene variants predict treatment success for alcoholism medication, NIH News, January 19

Adolescent alcohol use linked with genetic variation in DRD2 gene and drinking to cope, EurekAlert, January 18

"A stark warning:" Smoking causes genetic damage within minutes after inhaling, Medical News Today, January 18


First view of DNA damage within entire human genome provided by new technology, Medical News Today, January 20

PLoS Biology announces Genome Wide Association Study (GWAS) series, Medical News Today, January 19

Scientists view genome as it turns on and off inside cells, Science Daily, January 19

Is genomics medicine's holy grail, Daily Record, January 16

23andMe presents top 10 most interesting genetic findings of 2010, Medical News Today, January 15

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Genomics in the Scientific Literature


Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review
Jin F, et al.
J Cancer Res Clin Oncol 2011 Jan

Impact of computer-assisted data collection, evaluation and management on the cancer genetic counselor's time providing patient care
Cohen SA & McIlvried DE
Fam Cancer 2011 Jan

What's new in non-small cell lung cancer for pathologists: the importance of accurate subtyping, EGFR mutations and ALK rearrangements
Cooper WA, et al.
Pathology 2011 Feb;43(2):103-15

Cardiovascular Disease

Genetic Risk Score and Risk of Myocardial Infarction in Hispanics
Qi L, et al.
Circulation 2011 Jan

Ethical, Legal, and Social Issues (ELSI)

Caring for families with a family history of cancer: Why concerns about genetic predisposition are missing from the palliative agenda
Lillie AK, et al.
Palliat Med 2011 Jan

Family History

Effects of Family History and Genetic Polymorphism on the Cost-Effectiveness of Chemoprevention With Finasteride for Prostate Cancer
Reed SD, et al.
J Urol 2011 Jan

Genetic Testing

Carrier testing for severe childhood recessive diseases by next-generation sequencing
Bell CJ, et al.
Sci Transl Med 2011 Jan;3(65):65ra4

Direct-to-consumer genetic testing: An assessment of genetic counselors' knowledge and beliefs
Hock KT, et al.
Genet Med 2011 Jan

Genetic testing and cancer risk management recommendations by physicians for at-risk relatives
Plon SE, et al.
Genet Med 2011 Jan

Horizon scanning for new genomic tests
Gwinn M, et al.
Genet Med 2011 Jan

Systematic Review of Thiopurine Methyltransferase Genotype and Enzymatic Testing  Strategies
Donnan JR, et al.
Ther Drug Monit 2011 Jan

Mental Health

Gene-environment interactions: early life stress and risk for depressive and anxiety disorders
Nugent NR, et al.
Psychopharmacology (Berl) 2011 Jan

Newborn Screening

Postnatal screening for Klinefelter syndrome: Is there a rationale?
Herlihy AS, et al.
Acta Paediatr 2011 Jan

Personalized Medicine

Genetic risk estimation in the Coriell Personalized Medicine Collaborative
Stack CB, et al.
Genet Med 2011 Jan

Personalized medicine and oncology practice guidelines: a case study of contemporary biomarkers in colorectal cancer
Kelley RK, et al.
J Natl Compr Canc Netw 2011 Jan;9(1):13-25


Current Progress in Pharmacogenetics
Blakey JD & Hall IP
Br J Clin Pharmacol 2011 Jan

Pharmacoeconomic evaluation of warfarin pharmacogenomics
You JH
Expert Opin Pharmacother 2011 Jan

Pharmacogenetics of endocrine therapy for breast cancer
Higgins MJ & Stearns V
Annu Rev Med 2011 Feb;62:281-93

Smoking, Tobacco and Alcohol

Effect of model choice in genetic association studies: DRD4 exon III VNTR and cigarette use in young adults
Das D, et al.
Am J Med Genet B Neuropsychiatr Genet 2011 Jan


Genome-wide association studies: results from the first few years and potential implications for clinical medicine
Hirschhorn JN & Gajdos ZK
Annu Rev Med 2011 Feb;62:11-24

Moving Closer to a Public Health Model of Language and Learning Disabilities: The Role of Genetics and the Search for Etiologies
Miller B & McCardle P
Behav Genet 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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