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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 27, 2011       Volume 26   Number 4


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.   


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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.


Molecular network that influences development of chronic lymphocytic leukemia revealed by study, Medical News Today, January 26

Blocking rogue gene could stop the spread of most cancers, EurekAlert, January 24

Determining which bladder cancer patients may have cancer spread: Gene test, Medical News Today, January 24

Uncovering the genetics of prostate cancer, Medical News Today, January 22

Johns Hopkins scientists crack genetic code for form of pancreatic cancer, Medical News Today, January 21

Gene mutation play a major role in 1 cause of kidney disease, EurekAlert, January 20

Gene test shows which bladder cancer patients may have cancer spread, Science Daily, January 20

Cardiovascular Disease

Genetic link to high cholesterol is being missed, BBC News, January 24

Study confirms parental history as heart attack risk factor, Internal Medicine News, January 24

Ethical, Legal, and Social Issues (ELSI)

Call to permit embryo genetic testing in Germany, PHG Foundation, January 26

Genetics: Ethical, legal and social issues, Newswise, January 26

Realignment with participants' interest important for future of genomic research, News-Medical.Net, January 25

Genetic screening: Should the government stay out, American Council on Science and Health, January 20

Simple prenatal genetic tests may lead to healthier babies -- and more abortions, Los Angeles Times, January 20

Family History

Health of heart can hang on family, The Columbus Dispatch, January 24

Genetic Testing

Familial high cholesterol cases going undiagnosed, PHG Foundation, January 27

It was in his genes, The Cavalier Daily, January 26

Limited impact of personal genomic testing, PHG Foundation, January 24

Ramsey County tapped for massive children's health study, Minnesota Public Radio, January 24

CDC discourages patients from ordering personal genomic tests, Immortality Medicine, January 22

Need to know may drive predictive disease testing, PHG Foundation, January 21

Newborn Screening

Newborn screening expanded in United Arab Emirates, PHG Foundation, January 24

Personalized Medicine

NIH-supported study demonstrates the promise of personalized medicine, Media Newswire, January 26

It’s personal, The Varsity, January 25


Multi-disciplinary faculty group examined ways to improve genomic education, Medical News Today, January 25

Dashed hope or deferred dream, McGill Daily, January 24

Why almost everything you hear about medicine is wrong, Newsweek, January 24

Genetic sequencing alone doesn't offer a true picture of human disease, EurekAlert, January 23

Science success in the genes, Your Nabe, January 20

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Genomics in the Scientific Literature

Birth Defects

An overview of international literature from cystic fibrosis registries. Part 3.  Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea
Salvatore D, et al.
J Cyst Fibros 2011 Jan

Hypospadias: interactions between environment and genetics Kalfa N, et al.
Mol Cell Endocrinol 2011 Jan


A clinical perspective on genetic counseling and testing during end of life care  for women with recurrent progressive ovarian cancer: opportunities and challenges
Daniels MS, et al.
Fam Cancer 2011 Jan

Clinical outcome of triple negative breast cancer in BRCA1 mutation carriers and  noncarriers
Lee LJ, et al.
Cancer 2011 Jan

Genome-wide association studies for detecting cancer susceptibility
Hosking FJ, et al.
Br Med Bull 2011 Jan

Germline mutations in cancer susceptibility genes: an overview for nurses
Macdonald DJ
Semin Oncol Nurs 2011 Feb;27(1):21-33

Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study Fletcher O, et al.
J Natl Cancer Inst 2011 Jan

The clinical utility of testicular cancer risk loci
Kratz CP, et al.
Genome Med 2011 Jan;3(1):1

Cardiovascular Disease

Genome-Wide Association Studies of Atrial Fibrillation: Past, Present and Future
Sinner MF, et al.
Cardiovasc Res 2011 Jan

Chronic Disease

Genetic determinants of hepatic steatosis in man
Hooper AJ, et al.
J Lipid Res 2011 Jan

Personalizing dermatology: The future of genomic expression profiling to individualize dermatologic therapy
Rizzo AE & Maibach HI
J Dermatolog Treat 2011 Jan

Revealing the genetic basis of multiple sclerosis: are we there yet?
Baranzini SE
Curr Opin Genet Dev 2011 Jan

Ethical, Legal, and Social Issues (ELSI)

Ethical Dilemmas in Genetic Testing: Examples from the Cuban Program for Predictive Diagnosis of Hereditary Ataxias
Marino TC, et al.
J Genet Couns 2011 Jan

Ownership of Uncertainty: Healthcare Professionals Counseling and Treating Women  from Hereditary Breast and Ovarian Cancer Families Who Receive an Inconclusive BRCA1/2 Genetic Test Result
Kenen R, et al.
Genet Test Mol Biomarkers 2011 Jan

Family History

Accuracy of family history information on epilepsy and other seizure disorders
Ottman R, et al.
Neurology 2011 Jan;76(4):390-6

Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome
Swaby JA, et al.
Am J Cardiol 2011 Feb;107(3):466-71

Recurrent miscarriage is associated with a family history of ischaemic heart disease: a retrospective cohort study
Smith G, et al.
BJOG 2011 Jan

Genetic Testing

"For All My Family's Sake, I Should Go and Find Out"
Wakefield CE, et al.
Genet Test Mol Biomarkers 2011 Jan


Genetic Predisposition for Development of Complications in Multiple Trauma Patients
Hildebrand F, et al.
Shock 2011 Jan

Mental Health

Copy Number Variants: A New Molecular Frontier in Clinical Psychiatry
Moreno-De-Luca D & Cubells JF
Curr Psychiatry Rep 2011 Jan

Genome-wide Association: From Confounded to Confident
Glessner JT & Hakonarson H
Neuroscientist 2011 Jan

Tryptophan hydroxylase-2 (TPH2) in disorders of cognitive control and emotion regulation: A perspective
Waider J, et al.
Psychoneuroendocrinology 2011 Jan

Neurologic Conditions

Genetic contribution to common epilepsies
Sisodiya SM & Mefford HC
Curr Opin Neurol 2011 Jan

Genetic modifiers of neurological disease
Kearney JA
Curr Opin Genet Dev 2011 Jan

Modeling the Cumulative Genetic Risk for Multiple Sclerosis from Genome Wide Association Data
Wang JH, et al.
Genome Med 2011 Jan;3(1):3


Genetic Transmission of Cytochrome P450 2D6 (CYP2D6) Ultrarapid Metabolism: Implications for Breastfeeding Women taking Codeine
Madadi P, et al.
Curr Drug Saf 2011 Jan

Hepatitis C pharmacogenetics: State of the art in 2010
Afdhal NH, et al.
Hepatology 2011 Jan;53(1):336-45

The Emerging Role of Electronic Medical Records in Pharmacogenomics
Wilke RA, et al.
Clin Pharmacol Ther 2011 Jan

Smoking, Tobacco and Alcohol

Genome-Wide Association Studies of Alcohol Dependence and Substance Use Disorders
Treutlein J & Rietschel M
Curr Psychiatry Rep 2011 Jan


Clinical use of the analysis of the entire genome
Cornel MC, et al.
Ned Tijdschr Geneeskd 2011;155(2):A2847

Correlated genotypes in friendship networks
Fowler JH, et al.
Proc Natl Acad Sci U S A 2011 Jan

Recent human evolution has shaped geographical differences in susceptibility to disease
Marigorta UM, et al.
BMC Genomics 2011 Jan;12(1):55

The Genetic Counseling Outcome Scale: A New Patient Reported Outcome Measure for  Clinical Genetics Services
McAllister M, et al.
Clin Genet 2011 Jan

Using information prescriptions to refer patients with metabolic conditions to the Genetics Home Reference website
Beaudoin DE, et al.
J Med Libr Assoc 2011 Jan;99(1):70-6


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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